260 results on '"lobular breast cancer"'
Search Results
52. Hereditary Diffuse Gastric Cancer
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Poultsides, George, Norton, Jeffrey A., and Strong, Vivian E., editor
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- 2015
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53. Gastric and colon metastasis from breast cancer: case report, review of the literature, and possible underlying mechanisms
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Villa Guzmán JC, Espinosa J, Cervera R, Delgado M, Patón R, and Cordero García JM
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Lobular breast cancer ,gastrointestinal metastases and chemokines ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,RC254-282 - Abstract
J Carlos Villa Guzmán,1 J Espinosa,1 R Cervera,1 M Delgado,2 R Patón,3 JM Cordero García41Department of Medical Oncology, 2Department of Pathology, 3Department of Gastroenterology, 4Department of Nuclear Medicine, University Ciudad Real General Hospital, Ciudad Real, Spain Abstract: Gastrointestinal metastases from breast cancer are not common. We present a 58-year-old female diagnosed with lobular breast cancer some years before whose relapses were gastric and colonic mucosal. Simultaneous metastases are extremely rare. To our knowledge, no cases of initial dual affectation have been reported. The patient also showed gastritis by Helicobacter pylori. Invasive lobular breast carcinoma is the most frequent special type of breast cancer and carries some specific molecular alterations such as loss of expression of E-cadherin. Although underlying mechanisms of metastasization are not entirely known, chemokines as well as inflammatory events seem to be implicated in this process. Interaction between chemokines and their receptors frequently induces cell migration. We hypothesize that H. pylori, inflammatory cells, and chemokines may create a favorable environment attracting tumor cells. Keywords: chemokines, gastrointestinal metastases, H. pylori, lobular carcinoma
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- 2016
54. CDH1 Gene and Hereditary Diffuse Gastric Cancer Syndrome: Molecular and Histological Alterations and Implications for Diagnosis And Treatment
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Wenyi Luo, Faysal Fedda, Patrick Lynch, and Dongfeng Tan
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CDH1 cadherin-1 gene ,lobular breast cancer ,management ,familial gastric cancer (FGC) ,signet ring cell carcinoma ,Therapeutics. Pharmacology ,RM1-950 - Abstract
Gastric cancer, a group of common malignancies, results in the most cancer mortality worldwide after only lung and colorectal cancer. Although familial gastric cancers have long been recognized, it was not until recently that they were discovered to be associated with mutations of specific genes. Mutations of CDH1, the gene encoding E-cadherin, are the most common germline mutations detected in gastric cancer and underlie hereditary diffuse gastric cancer (HDGC) syndrome. All reported HDGCs are the pure diffuse type by Lauren classification and are associated with dismal prognosis once the tumor invades the submucosa. Because CDH1 germline mutations are inherited in an autosomal-dominant fashion and have high penetrance, the International Gastric Cancer Linkage Consortium (IGCLC) developed criteria to facilitate the screening of CDH1 mutation carriers; these criteria have been proven to have excellent sensitivity and specificity. Recent histologic studies suggest that HDGC progresses through several stages. Even when the tumor becomes “invasive” in lamina propria, it may stay indolent for a long time. However, the molecular mechanisms that induce the transitions between stages and determine the length of the indolent phase remain to be determined. Although the standard management for CDH1 mutation carriers is prophylactic total gastrectomy, many questions must be answered before the surgery can be done. These include the optimal surveillance strategy, the best strategy to choose surgical candidates, and the ideal time to perform surgery. In addition to increasing the risk of gastric cancer, CDH1 germline mutations also increase the risk of invasive lobular carcinoma of the breast, and possibly colorectal adenocarcinoma, and are associated with blepharocheilodontic syndrome (a congenital development disorder). However, the optimal management of these conditions is less established owing to insufficient data regarding the risk of cancer development. This review focuses on molecular and histological findings in HDGC, as opposed to sporadic diffuse gastric cancer, and their implications for the management of CDH1 mutation carriers and the diagnosis and treatment of HDGC. Other conditions associated with CDH1 germline mutations and future research directions are also discussed.
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- 2018
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55. Orbital metastases of invasive lobular breast carcinoma.
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Tsagkaraki, Ismini Michail, Kourouniotis, Christoforos Dimitrios, Gomatou, Georgia Leonidas, Syrigos, Nikolaos Konstantinos, and Kotteas, Elias Alexandros
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LOBULAR carcinoma , *PATHOLOGY , *BREAST cancer , *METASTASIS , *ASSET management accounts , *CANCER patients - Abstract
Breast cancer is the main site of origin of orbital metastatic disease. Although invasive lobular breast carcinoma accounts for 10–15% of all breast cancer cases, it has been noticed that it metastasizes to the orbit more often compared to breast cancer of no special type (NST). The pathogenesis of this metastasis is not entirely understood; however, it seems that the unique tissue-specific characteristics of orbital microenvironment might contribute to metastatic disease in this particular site. Given the increasing survival of breast cancer patients and the prolonged metastatic potential of invasive lobular breast carcinoma, it is possible that the incidence of this rare metastasis might increase in the future. The purpose of this review is to present clinical manifestations, immunohistochemical characteristics and therapeutic options for orbital metastases from invasive lobular carcinoma. [ABSTRACT FROM AUTHOR]
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- 2019
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56. Multidisciplinary management of CDH1 germinal mutation and prophylactic management hereditary lobular breast cancer: A case report.
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Mirandola, Sara, Pellini, Francesca, Granuzzo, Eleonora, Lorenzi, Maya, Accordini, Beatrice, Ulgelmo, Maurizio, Invento, Alessandra, Lombardi, Davide, Caldana, Marina, and Pollini, Giovanni Paolo
- Abstract
• Currently, there is no indication to perform prophylactic mastectomy in CDH1 mutation carriers: breast surveillance is recommended. • To reduce the psychological impact due to bilateral prophylactic mastectomy, that is followed by immediate breast reconstruction. • A full multidisciplinary team is crucial for the management of patients with CDH1 mutation. Germline CDH1 mutations, classically associated with hereditary diffuse gastric cancer (HDGC), also imply an increased lifetime risk of developing lobular breast cancer (LBC) in a highly penetrant autosomal dominant manner. We report a 44-year-old woman CDH1 mutation carrier with a strong family history of cancer, who previously had prophylactic total gastrectomy. We registered normal findings at the breast and axilla assessment. Mammography, ultrasonography and breast MRI scans were negative for cancer. In our Institute a bilateral prophylactic mastectomy followed by breast reconstruction was performed. Foci of atypical lobular hyperplasia(ALH) and lobular carcinoma in situ (LCIS) were histologically shown. The current consensus guidelines for women with pathogenic CDH1 mutations recommend annual mammography, ultrasound, breast MRI scans and clinical breast examination starting at the age of 35. Due to the well-documented aggressive behavior of this particular type of cancer, bilateral mastectomy and reconstruction would be more beneficial for this kind of high-risk patients. Conflicting evidences and lacking data about the benefits in terms of overall survival, disease-free survival and the long-term outcomes related to prophylactic bilateral mastectomy for CDH1 mutation carriers restrict the instruction for this type of procedure to selected cases, which should always be managed by a multidisciplinary team. [ABSTRACT FROM AUTHOR]
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- 2019
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57. The benefits of a model of interval comprehensive assessments (MICA) in hereditary cancer Syndromes: Hereditary diffuse gastric cancer (HDGC) as an example.
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Lynch, Henry T., Nustas, Rosemary, Kassim, Thamer, Snyder, Carrie, Shaw, Trudy, and Diab, Osama
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HEREDITARY cancer syndromes , *STOMACH cancer , *GENETIC counseling , *MICA , *GENETIC testing , *HIV testing kits - Abstract
• Ability to work with a family, however remote from our Creighton university location. • Collaborative opportunities through members of the family who have worked so hard on behalf of identifying patients who would benefit from the CDH1 mutation testing and our recommendations, if positive, to undergo prophylactic total gastrectomy. • Follow-up opportunities for countless other hereditary cancer-prone families. A high percentage of individuals at risk for hereditary cancer syndromes are unaware of their risk. This is especially detrimental in syndromes such as hereditary diffuse gastric cancer due to a CDH1 germline mutation, for which lifesaving prevention is possible. Surveillance for diffuse gastric cancer in the syndrome is limited, hence the recommendation for prophylactic total gastrectomy for mutation carriers. Genetic counseling and testing is crucial in suspected families but initial contact could be limited, leading to the importance of an interval comprehensive review every 5–8 years to identify and screen additional high-risk individuals. Our contact with a hereditary diffuse gastric cancer family in Jordan in 2011 led to a number of family members receiving education and genetic counseling. Our model of interval comprehensive assessment (MICA) was constructed and implemented by conducting family information service, video call and emails to the high-risk individuals 7 years after initial contact. Using an updated family pedigree we reached out to an additional thirteen high-risk members in six different countries and provided them with genetic education, counseling, and testing. Six members agreed to CDH1 testing (46%). Four tested positive (66%) and one member (25%) underwent prophylactic total gastrectomy. [ABSTRACT FROM AUTHOR]
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- 2019
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58. Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.
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Lee, Kristy, Krempely, Kate, Roberts, Maegan E., Anderson, Michael J., Carneiro, Fatima, Chao, Elizabeth, Dixon, Katherine, Figueiredo, Joana, Ghosh, Rajarshi, Huntsman, David, Kaurah, Pardeep, Kesserwan, Chimene, Landrith, Tyler, Li, Shuwei, Mensenkamp, Arjen R., Oliveira, Carla, Pardo, Carolina, Pesaran, Tina, Richardson, Matthew, and Slavin, Thomas P.
- Abstract
The variant curation guidelines published in 2015 by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) provided the genetics community with a framework to assess variant pathogenicity; however, these rules are not gene specific. Germline pathogenic variants in the CDH1 gene cause hereditary diffuse gastric cancer and lobular breast cancer, a clinically challenging cancer predisposition syndrome that often requires a multidisciplinary team of experts to be properly managed. Given this challenge, the Clinical Genome Resource (ClinGen) Hereditary Cancer Domain prioritized the development of the CDH1 variant curation expert panel (VCEP) to develop and implement rules for CDH1 variant classifications. Here, we describe the CDH1 specifications of the ACMG/AMP guidelines, which were developed and validated after a systematic evaluation of variants obtained from a cohort of clinical laboratory data encompassing ∼827,000 CDH1 sequenced alleles. Comparing previously reported germline variants that were classified using the 2015 ACMG/AMP guidelines to the CDH1 VCEP recommendations resulted in reduced variants of uncertain significance and facilitated resolution of variants with conflicted assertions in ClinVar. The ClinGen CDH1 VCEP recommends the use of these CDH1‐specific guidelines for the assessment and classification of variants identified in this clinically actionable gene. Germline pathogenic variants in the CDH1 gene cause hereditary diffuse gastric cancer and lobular breast cancer. The ClinGen CDH1 Expert Panel developed and implemented rules for CDH1 variant curation, providing the genetic community with a gene‐specific framework for the classification of variants identified in this clinically actionable gene. Overall, the Expert Panel specifications resulted in reduced variants of uncertain significance and facilitated resolution of variants with conflicted assertions in ClinVar. [ABSTRACT FROM AUTHOR]
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- 2018
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59. Evaluation of pathological parameters and morphometric data of desmoplastic lobular breast carcinoma
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Ivan R Ilic, Nikola M Stojanović, Pavle J Randjelović, Marina N Mihajlović, Niko S Radulović, and Ratko S Ilić
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Desmoplastic ,lobular breast cancer ,morphometry ,nuclear area ,Pathology ,RB1-214 ,Microbiology ,QR1-502 - Abstract
Background: Invasive lobular breast cancer (ILC) is the second most frequent form of breast cancer. While cancer cells are regularly investigated, tumor stroma represents a highly unexplored field. Aims: The aim of this study is to perform a detailed investigation of clinical, immunohistochemical, and morphometric characteristics of desmoplastic (D) and nondesmoplastic (ND) ILC. Materials and Methods: This study included twenty cases of ILC that were divided into two groups designated as D and ND groups. Medical histories and diagnosis data were obtained from the archives of the Center of Pathology, Clinical center Niš (Serbia). Morphometric analysis of hematoxylin and eosin stained slides was performed using ImageJ software, and the obtained data were further statistical processed. Results: Statistical analyses of the data revealed that no significant differences between D and ND groups when patient age, estrogen receptor (ER), and progesterone receptor (PR) expressions and morphometrical parameters (such as the distance between groups of cancer cells and nucleocytoplasmic ratio) were compared. However, D and ND groups statistically, significantly differed in the occurrence of axillary lymph node metastasis, and when the ER and PR data were included, in certain nuclear parameters (cell/nucleus area, perimeter, Feret′s diameter, and circularity). Conclusions: Desmoplastic stroma was observed more frequently in patients without axillary lymph node metastases, whereas the expression of ER and PR had no influence on its development. According to the measured morphometric parameters larger cells/nuclei belonged to ND group.
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- 2016
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60. Thirteenth Annual ENBDC Workshop: Methods in Mammary Gland Biology and Breast Cancer
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Alecia-Jane Twigger, Jakub Sumbal, Mohamed Bentires-Alj, Beatrice A Howard, Twigger, Alecia-Jane [0000-0003-4361-817X], Sumbal, Jakub [0000-0003-3700-4518], Bentires-Alj, Mohamed [0000-0001-6344-1127], Howard, Beatrice A [0000-0002-9162-0314], and Apollo - University of Cambridge Repository
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Organoids ,Patient-derived Xenografts ,Mammary Gland Biology ,Cancer Research ,Breast cancer ,Oncology ,ductal carcinoma in situ ,Breast Development ,Resistance To Endocrine Therapy ,Lactation ,In Vivo Live Imaging ,Lobular Breast Cancer - Abstract
The thirteenth annual workshop of the European Network for Breast Development and Cancer (ENBDC) Laboratories Annual Workshop took place on the 28–30 April 2022 in Weggis, Switzerland and focused on methods in mammary gland biology and breast cancer. Sixty scientists participated in the ENBDC annual workshop which had not been held in person since 2019 due to the global COVID-19 pandemic. Topics spanned the mammary gland biology field, ranging from lactation biology and embryonic development, single cell sequencing of the human breast, and stunning cutting-edge imaging of the mouse mammary gland and human breast as well as breast cancer research topics including invasive progression of the pre-invasive DCIS stage, metabolic determinants of endocrine therapy resistance, models for lobular breast cancer, and how mutational landscapes of normal breast during age and pregnancy determine cancer risk. The latest findings from participating researchers were presented through oral presentations and poster sessions and included plenty of unpublished work.
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- 2022
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61. Hereditary Diffuse Gastric Cancer and Other Gastric Cancers Associated with Hereditary Predisposition Syndromes
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Carneiro, Fátima, Oliveira, Carla, Seruca, Raquel, Sepulveda, Antonia R., editor, and Lynch, John P., editor
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- 2013
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62. Metastatic Leptomeningeal Carcinomatosis From Primary Lobular Breast Cancer Found in a Medical School Cadaveric Dissection.
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Mitchell MC, Pollock J 3rd, Downs MB, and Stephen D
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Leptomeningeal carcinomatosis (LC) is an uncommon sequelae of metastatic cancer affecting the pia and arachnoid mater. It has been postulated that recent improvements in cancer patient survival time have increased the frequency of LC and other rare metastatic conditions that patients previously would not have lived long enough to experience. LC carries a universally poor prognosis with a mean survival of between two to four months if treated; however, the recent increase in incidence has allowed for further research into the condition and potential treatments. Options for administering chemotherapy have been limited in the past, but recent developments in surgical chemotherapeutic ports have allowed for intrathecal delivery of drugs like methotrexate without systemic exposure. In fact, innovative delivery systems undergoing clinical trials can deliver these drugs in a metronomic fashion to limit the leukoencephalopathy complications of methotrexate. Primary breast cancer is the most common source of metastatic leptomeningeal lesions, and such a lesion was observed by the authors in the cadaver of a 70-year-old Caucasian female with unspecified breast cancer in a medical school anatomic laboratory. The cause of death was listed as "complication of malignant neoplasm of unspecified site of unspecified female breast." Through this case report, we seek to develop our understanding of this rare metastatic phenomenon and highlight the importance of student cadaveric dissection., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Mitchell et al.)
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- 2023
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63. Loss of Cadherin-Catenin Adhesion System in Invasive Cancer Cells
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Lien, Wen-Hui, Vasioukhin, Valeri, and Thomas-Tikhonenko, Andrei, editor
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- 2010
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64. Lobular Carcinoma in Situ
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Silva, Leonard Da, Simpson, Peter T., Lakhani, Sunil R., Jatoi, Ismail, editor, and Kaufmann, Manfred, editor
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- 2010
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65. Hereditary Diffuse Gastric Cancer
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Pandalai, Prakash K., Yoon, Sam S., Chung, Daniel C., editor, and Haber, Daniel A., editor
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- 2010
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66. αE‐catenin is a candidate tumor suppressor for the development of E‐cadherin‐expressing lobular‐type breast cancer.
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de Groot, Jolien S., Ratze, Max A. K., van Amersfoort, Miranda, Eisemann, Tanja, Vlug, Eva J., Niklaas, Mijanou T., Chin, Suet‐Feung, Caldas, Carlos, van Diest, Paul J., Jonkers, Jos, de Rooij, Johan, and Derksen, Patrick W. B.
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Abstract: Although mutational inactivation of E‐cadherin (CDH1) is the main driver of invasive lobular breast cancer (ILC), approximately 10–15% of all ILCs retain membrane‐localized E‐cadherin despite the presence of an apparent non‐cohesive and invasive lobular growth pattern. Given that ILC is dependent on constitutive actomyosin contraction for tumor development and progression, we used a combination of cell systems and in vivo experiments to investigate the consequences of α‐catenin (CTNNA1) loss in the regulation of anchorage independence of non‐invasive breast carcinoma. We found that inactivating somatic CTNNA1 mutations in human breast cancer correlated with lobular and mixed ducto‐lobular phenotypes. Further, inducible loss of α‐catenin in mouse and human E‐cadherin‐expressing breast cancer cells led to atypical localization of E‐cadherin, a rounded cell morphology, and anoikis resistance. Pharmacological inhibition experiments subsequently revealed that, similar to E‐cadherin‐mutant ILC, anoikis resistance induced by α‐catenin loss was dependent on Rho/Rock‐dependent actomyosin contractility. Finally, using a transplantation‐based conditional mouse model, we demonstrate that inducible inactivation of α‐catenin instigates acquisition of lobular features and invasive behavior. We therefore suggest that α‐catenin represents a bona fide tumor suppressor for the development of lobular‐type breast cancer and as such provides an alternative event to E‐cadherin inactivation, adherens junction (AJ) dysfunction, and subsequent constitutive actomyosin contraction. © 2018 The Authors. The Journal of Pathology published by John Wiley & Sons Ltd on behalf of Pathological Society of Great Britain and Ireland. [ABSTRACT FROM AUTHOR]
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- 2018
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67. PET Imaging of Breast Cancer Molecular Biomarkers
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Brugola, Elisabetta, Buck, Andreas K., Tagliabue, Luca, Reske, Sven N., Lucignani, Giovanni, Bombardieri, Emilio, editor, Gianni, Luca, editor, and Bonadonna, Gianni, editor
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- 2008
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68. Vitamin D and Histological Features of Breast Cancer: Preliminary Data from an Observational Retrospective Italian Study
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Lello, S., Capozzi, Antonella, Scardina, L., Ionta, L., Sorge, R., Scambia, Giovanni, Franceschini, Gianluca, Capozzi A., Scambia G. (ORCID:0000-0003-2758-1063), Franceschini G. (ORCID:0000-0002-2950-3395), Lello, S., Capozzi, Antonella, Scardina, L., Ionta, L., Sorge, R., Scambia, Giovanni, Franceschini, Gianluca, Capozzi A., Scambia G. (ORCID:0000-0003-2758-1063), and Franceschini G. (ORCID:0000-0002-2950-3395)
- Abstract
Background: Vitamin D (vitD) may be involved in different extraskeletal conditions as well as skeletal muscle diseases. It has been hypothesized that, at least in part, a low level of vitD could contribute to facilitating cancer development. Breast cancer (BC) seems to be associated with low levels of vitD. Materials and methods: This was an observational retrospective evaluation of 87 women (mean age: 54 ± 12 years old) who underwent surgery for the treatment of BC. Our main purpose was to correlate the types of BC and the levels of vitD. Results: A positive significant correlation (R > 0.7) was found between non-invasive carcinoma in situ and 25(OH)D levels and age (R = 0.82, p < 0.05). A positive, but nonsignificant, correlation was reported between invasive ductal carcinoma and 25(OH)D and age (R = 0.45, p > 0.05). A negative but nonsignificant correlation was found between invasive lobular carcinoma and 25(OH)D and age (R = 0.24, p > 0.05). Discussion and Conclusions: We did not find a significant relationship between vitD and BC subtypes. Considering the positive significant correlation between vitD levels and age for in situ BC, although preliminary, our results seem to suggest a possible role of vitD in in situ BC. However, these findings need to be confirmed in larger studies.
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- 2022
69. E-Cadherin expression in human tumors: a tissue microarray study on 10,851 tumors
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Burandt, Eike, Lübbersmeyer, Felix, Gorbokon, Natalia, Büscheck, Franziska, Luebke, Andreas M., Menz, Anne, Kluth, Martina, Hube-Magg, Claudia, Hinsch, Andrea, Höflmayer, Doris, Weidemann, Sören, Fraune, Christoph, Möller, Katharina, Jacobsen, Frank, Lebok, Patrick, Clauditz, Till Sebastian, Sauter, Guido, Simon, Ronald, Uhlig, Ria, Wilczak, Waldemar, Steurer, Stefan, Minner, Sarah, Krech, Rainer, Dum, David, Krech, Till, Marx, Andreas Holger, and Bernreuther, Christian
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- 2021
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70. The Quantitative ER Immunohistochemical Analysis in Breast Cancer: Detecting the 3 + 0, 4 + 0, and 5 + 0 Allred Score Cases
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Ivan R. Ilić, Nikola M. Stojanović, Niko S. Radulović, Vesna V. Živković, Pavle J. Randjelović, Aleksandar S. Petrović, Marina Božić, and Ratko S. Ilić
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lobular breast cancer ,Allred scoring system ,estrogen immunopositivity ,quantitative analysis ,Medicine (General) ,R5-920 - Abstract
Background and objectives: The currently used immunohistochemical approach in determining the estrogen receptor (ER) positivity of breast cancers (BCs) is inherently subjective and additionally limited by its semi-quantitative nature. The application of software in the analysis of digitized slide images may overcome some of these limitations. However, the utilization of such an approach requires that the entire staining procedure is standardized. Background and objectives: We aimed to establish a procedure for the photometric and morphometric analysis of BC immunohistochemical parameters that can possibly be used for a diagnostic purpose that is in line with the current semi-quantitative scoring system. Materials and Methods: Semi-quantitative analysis of ER-stained tissue sections was performed following the Allred scoring system guidelines. The quantitative analysis was performed in ImageJ software after color deconvolution. The quantitative analysis of 66 cases of invasive lobular BC included: Percent of ER-positive cells, average nuclear coloration intensity, and the quantitative ER score. The percent of ER-positive tumor cells was counted using a standard grid overlay, while optical density (0.0–1.0) was measured within each nucleus at the grid points. Results: A statistical analysis revealed a significant positive correlation (r = 0.886, p < 0.001) between the subjective semi-quantitative and quantitative ER scores, with a large effect size (d = 3.8215). We observed strong statistically significant correlations between individual parameters of the total ER score, percentage of ER-positive nuclei, and color intensity, obtained by the two independent methods. Conclusions: Additionally, besides excluding subjectivity, the up to now unreported cases of 3 + 0, 4 + 0, and 5 + 0 Allred scores were detected only by the application of the proposed quantitative approach.
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- 2019
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71. Gastric and Endobronchial Metastases in a Case of Lobular Breast Cancer
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G.S. Fernandes, T.S. Corrêa, E.P.B. Carvalho, A. Katz, and P.M. Hoff
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Lobular breast cancer ,Gastric metastasis ,Endobronchial metastasis ,Invasive lobular carcinoma ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,RC254-282 - Abstract
Background: Invasive lobular carcinoma (ILC) is the second most common histological type of invasive breast carcinoma, preceded only by infiltrating ductal carcinoma, which has clinical, biological and molecular distinctions. These distinctions imply a different metastatic behavior between the histology of these 2 types of breast cancer. Case Presentation: We report the case of a 51-year-old woman with breast cancer with ILC histology, diagnosed at an early stage. In the course of her disease, recurrences in the gastric mucosa and endobronchial area occurred. The treatment she received is described herein. Conclusion: This is a case of ILC with unusual metastases. The absence of E-cadherin is related to the carcinogenesis of ILC and probably to these patterns of metastasis as well.
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- 2013
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72. Hereditary diffuse gastric cancer in two families: A case report.
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FEROCE, IRENE, SERRANO, DAVIDE, BIFFI, ROBERTO, ANDREONI, BRUNO, GALIMBERTI, VIVIANA, SONZOGNI, ANGELICA, BOTTIGLIERI, LUCA, BOTTERI, EDOARDO, TROVATO, CRISTINA, MARABELLI, MONICA, RANZANI, GUGLIELMINA NADIA, and BONANNI, BERNARDO
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CADHERINS , *STOMACH cancer treatment , *STOMACH cancer , *BREAST cancer diagnosis , *GASTRECTOMY , *GENETICS - Abstract
Hereditary diffuse gastric cancer (HDGC) is associated with E-cadherin 1 (CDH1) germline mutations. In the present study, two unusual HDGC cases are described. Case 1 was a female with no family history of gastric cancer who developed Hodgkin's lymphoma at 19 years of age, and DGC at 32 years of age. Due to her young age (32 years), the patient was examined for CDH1 abnormalities and a deleterious mutation was identified. Her father and younger sister were identified to be carriers of the mutation. Case 2 was a 36-year-old female diagnosed with lobular breast cancer (LBC); her mother had LBC, and her grandmother had LBC and DGC. The molecular test was wild-type for breast cancer susceptibility genes 1 and 2; however, a large deletion in CDH1 was identified. At prophylactic gastrectomy, early DGC was identified. Early onset of DGC and LBC justifies testing for CDH1. A better knowledge of tumor natural history in carrier subjects is important to aid genetic counseling, in order to assess the surveillance time required prior to carrying out prophylactic surgery. [ABSTRACT FROM AUTHOR]
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- 2017
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73. Subclonal analysis in a lobular breast cancer with classical and solid growth pattern mimicking a solid-papillary carcinoma.
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Christgen, Matthias, Bartels, Stephan, van Luttikhuizen, Jana Lisa, Schieck, Maximilian, Pertschy, Stefanie, Kundu, Sudip, Lehmann, Ulrich, Sander, Bjoern, Pelz, Enrico, Länger, Florian, Schlegelberger, Brigitte, Steinemann, Doris, and Kreipe, Hans
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- 2017
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74. [Hereditary diffuse gastric cancer].
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Knipper K, Fuchs HF, Alakus H, Bruns CJ, and Schmidt T
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- Adult, Aged, 80 and over, Female, Humans, Adenocarcinoma surgery, Breast Neoplasms epidemiology, Breast Neoplasms genetics, Breast Neoplasms surgery, Carcinoma, Lobular genetics, Carcinoma, Lobular pathology, Carcinoma, Lobular surgery, Genetic Testing, Mastectomy, Stomach Neoplasms diagnosis, Stomach Neoplasms epidemiology, Stomach Neoplasms genetics
- Abstract
Due to the increasing research into familial clustering of cancer entities, more and more genes are being identified in which mutations explain this clustering. Mutations in the cadherin 1 (CDH1) and catenin alpha 1 (CTNNA1) genes are considered to be causative for the occurrence of hereditary diffuse gastric cancer. Those affected show an incidence of gastric cancer of around 40% up to the age of 80 years and affected women show an incidence of 55% for the occurrence of lobular breast cancer. In 2020 updated international guidelines were published for the clinical management of patients with hereditary diffuse gastric cancer. When the specific test criteria are fulfilled, patients should undergo genetic testing for mutations in the CDH1 and CTNNA1 genes. In cases of the familial occurrence of diffuse gastric cancer and detection of a pathological mutation, a prophylactic total gastrectomy with D1 lymphadenectomy is recommended. Alternatively, or when pathological mutations are not detected, a gastroscopy should be performed annually with targeted and random biopsies. The occurrence of lobular breast cancer should be monitored annually by magnetic resonance imaging (MRI) from the age of 30 years onwards. A bilateral mastectomy for risk reduction should be discussed in a multidisciplinary setting., (© 2023. The Author(s), under exclusive licence to Springer Medizin Verlag GmbH, ein Teil von Springer Nature.)
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- 2023
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75. Human epidermal growth factor receptor 2 positive rates in invasive lobular breast carcinoma: The Singapore experience
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Ga-Jing Kee, Rebecca Dent, Fuh-Yong Wong, Swee-Ho Lim, Guek-Eng Lee, Joycelyn Lee, Joe Yeong, Ma Wai-Wai Zaw, Yoon Sim Yap, Su-Ming Tan, Ryan Ying-Cong Tan, Wei-Xiang Lian, Sultana Rehena, and Benita Kiat Tee Tan
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0301 basic medicine ,Oncology ,medicine.medical_specialty ,Multivariate analysis ,Lobular breast cancer ,Clinicopathological characteristics ,03 medical and health sciences ,0302 clinical medicine ,Breast cancer ,Internal medicine ,Retrospective Cohort Study ,Medicine ,Progesterone Receptor Negative ,skin and connective tissue diseases ,neoplasms ,Human Epidermal Growth Factor Receptor 2 ,Singapore ,business.industry ,Medical record ,Hazard ratio ,medicine.disease ,Confidence interval ,body regions ,030104 developmental biology ,Human epidermal growth factor receptor 2 positive ,030220 oncology & carcinogenesis ,business ,Prognostic value ,Invasive Lobular Breast Carcinoma ,Invasive breast cancer - Abstract
BACKGROUND Invasive lobular carcinomas (ILC) form 5%-10% of breast cancer and rarely show overexpression of human epidermal growth factor receptor 2 (HER2). AIM To describe the prevalence and prognostic factors of HER2 positive (HER2+) ILC in an Asian population. METHODS A retrospective review of patients with ILC seen between January 1985 and March 2018 at various SingHealth medical institutions was conducted. Demographic and clinical data were collected from medical records. We examined clinicopathological characteristics and survival in relation to HER2 status. RESULTS A total of 864 patients were included. Prevalence of HER2 positivity was 10.1% (87 patients). Compared with HER2 negative (HER2-) ILC, HER2+ ILC was associated with a higher proportion of estrogen receptor negative (24.4% vs 5.9%, P < 0.001), progesterone receptor negative (PR-) (40.2% vs 24%, P = 0.002) and grade 3 tumours (Grade 3, 29.0% vs 10.2%, P < 0.001). Overall survival rate was poorer in patients with HER2+ compared to HER2- ILC (56.7% vs 72.9% alive at 10 years; hazard ratio 1.87, 95% confidence interval: 1.21-2.90, P = 0.004). Based on multivariate analysis, negative prognostic factors for overall survival included HER2 positivity, PR negativity, older age, Indian ethnicity and higher tumour stage. CONCLUSION Prevalence of HER2+ ILC was 10.1%. HER2+ ILC was more likely to have poorer prognostic features such as estrogen receptor negative, PR- and higher tumour grade, and have a poorer survival.
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- 2020
76. E-Cadherin-Deficient Cells Are Sensitive to the Multikinase Inhibitor Dasatinib
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Nicola Bougen-Zhukov, Lyvianne Decourtye-Espiard, Wilson Mitchell, Kieran Redpath, Jacqui Perkinson, Tanis Godwin, Michael A. Black, and Parry Guilford
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HDGC ,E-cadherin ,lobular breast cancer ,diffuse gastric cancer ,synthetic lethality ,chemoprevention ,dasatinib ,AKT serine/threonine kinase 3 AKT3 ,discoidin domain receptor 2 (DDR2) ,Cancer Research ,Oncology ,hemic and lymphatic diseases - Abstract
The CDH1 gene, encoding the cell adhesion protein E-cadherin, is one of the most frequently mutated genes in gastric cancer and inactivating germline CDH1 mutations are responsible for the cancer syndrome hereditary diffuse gastric cancer (HDGC). CDH1-deficient gastric cancers exhibit high AKT serine/threonine kinase 3 (AKT3) expression, but specific drugs against this AKT isoform are not available. We therefore used two publicly available datasets to identify AKT3-associated genes which could be used to indirectly target AKT3. Reactome analysis identified an enrichment of extracellular matrix remodelling genes in AKT3-high gastric cancers. Of the 51 genes that were significantly correlated with AKT3 (but not AKT1), discoidin domain receptor tyrosine kinase 2 (DDR2) showed the strongest positive association. Treatment of isogenic human cells and mouse gastric and mammary organoids with dasatinib, a small molecule inhibitor of multiple kinases including SRC, BCR-ABL and DDR2, preferentially slowed the growth and induced apoptosis of E-cadherin-deficient cells. Dasatinib treatment also preferentially slowed the growth of gastric and mammary organoids harbouring both Cdh1 and Tp53 mutations. In organoid models, dasatinib treatment was associated with decreased phosphorylation of total AKT, with a stronger effect seen in Cdh1-deficient organoids. Treatment with combinations of dasatinib and an inhibitor of AKT, MK2206, enhanced the effect of dasatinib in breast MCF10A cells. In conclusion, targeting the DDR2-SRC-AKT3 axis with dasatinib represents a promising approach for the chemoprevention and chemotherapy of gastric and breast cancers lacking E-cadherin.
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- 2022
77. Characterisation of the Stromal Microenvironment in Lobular Breast Cancer
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Laura Gómez-Cuadrado, Esme Bullock, Zeanap Mabruk, Hong Zhao, Margarita Souleimanova, Pernille Noer, Arran Turnbull, Claus Oxvig, Nicholas Bertos, Adam Byron, J. Dixon, Morag Park, Syed Haider, Rachael Natrajan, Andrew Sims, and Valerie Brunton
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lobular breast cancer ,tumor microenvironment ,cancer-associated fibroblasts ,body regions ,Cancer Research ,Tumor microenvironment ,Oncology ,Lobular breast cancer ,skin and connective tissue diseases ,Cancer-associated fibroblasts - Abstract
Invasive lobular carcinoma (ILC) is the second most common histological subtype of breast cancer, and it exhibits a number of clinico-pathological characteristics distinct from the more common invasive ductal carcinoma (IDC). We set out to identify alterations in the tumor microenvironment (TME) of ILC. We used laser-capture microdissection to separate tumor epithelium from stroma in 23 ER+ ILC primary tumors. Gene expression analysis identified 45 genes involved in regulation of the extracellular matrix (ECM) that were enriched in the non-immune stroma of ILC, but not in non-immune stroma from ER+ IDC or normal breast. Of these, 10 were expressed in cancer-associated fibroblasts (CAFs) and were increased in ILC compared to IDC in bulk gene expression datasets, with PAPPA and TIMP2 being associated with better survival in ILC but not IDC. PAPPA, a gene involved in IGF-1 signaling, was the most enriched in the stroma compared to the tumor epithelial compartment in ILC. Analysis of PAPPA- and IGF1-associated genes identified a paracrine signaling pathway, and active PAPP-A was shown to be secreted from primary CAFs. This is the first study to demonstrate molecular differences in the TME between ILC and IDC identifying differences in matrix organization and growth factor signaling pathways.
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- 2021
78. Bone marrow involvement by metastatic invasive lobular breast cancer.
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La Gioia, Antonio, Fiorini, Fabiana, and La Gioia, Nicola
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CLINICAL pathology , *EOSINOPHILS , *LOBULAR carcinoma , *BASOPHILS , *CANCER invasiveness , *METASTASIS , *PANCYTOPENIA , *NEUTROPHILS , *LYMPHOCYTES , *PLATELET count , *BONE marrow , *BREAST tumors , *RARE diseases , *MONOCYTES ,BONE marrow cancer - Abstract
The article explores A 67-year-old woman who had a previous diagnosis of left lobular breast cancer was hospitalised for fatigue and recurrent epistaxis 8 years after that diagnosis. Laboratory tests showed haemoglobin concentration of 64 g/L (reference range [rr]: 114- 150 g/L) and pancytopenia with leukocyte and platelet counts of 1.7 × 109 /L and 12 × 109 /L, respectively (rr: 4.0-11.0 × 109 /L and 140-450 × 109 /L).
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- 2022
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79. Lobular breast cancer: Clinical, molecular and morphological characteristics.
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Christgen, Matthias, Steinemann, Doris, Kühnle, Elna, Länger, Florian, Gluz, Oleg, Harbeck, Nadia, and Kreipe, Hans
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BREAST cancer diagnosis , *BREAST surgery , *BREAST cancer treatment , *HORMONE receptor positive breast cancer , *ADJUVANT treatment of cancer , *EPIDEMIOLOGY , *MOLECULAR genetics - Abstract
Infiltrating lobular breast cancer (ILBC) is the most common special breast cancer subtype. This review provides a comprehensive description of ILBC characteristics, including epidemiology, clinical features, molecular genetics and histomorphology. Twenty detailed supplemental data tables guide through primary data of more than 200 original studies. Meta-analyses indicate that ILBC is at least twice as common in the Western world as it is in other geographic regions. ILBC is over-represented in so‐called interval carcinomas and in primary metastatic breast cancer. ILBC is also associated higher age, higher pT stage and hormone receptor (ER/PR) positivity. Pathological complete response rates after neoadjuvant chemotherapy are low, ranging between 0% and 11%. Positive resection margins after breast-conserving surgery are comparatively frequent and 17% to 65% of patients undergo a second surgical intervention. Depending on the morphological stringency in the diagnosis of ILBC, lack of E‐cadherin expression is observed in 55% to 100% of cases. CDH1/E -cadherin mutation detection rates vary between 12% and 83%. Various additional molecular factors, including PIK3CA , TP53 , FOXA1 , FGFR1 , ZNF703 and BCAR4 , have been implicated in ILBC or progression of lobular carcinoma in situ (LCIS) to invasive cancer and are discussed in detail. Eight instructive figure plates recapitulate the histomorphology of ILBC and its variants. Furthermore, we draw attention to rarely addressed histological details, such as two‐sided nuclear compression and fat‐avoiding growth at the invasion front. Last but not least, we discuss future translational research directions and emphasize the concept of synthetic lethality, which promises new options for targeted ILBC therapy. [ABSTRACT FROM AUTHOR]
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- 2016
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80. CDH1 germline mutations and hereditary lobular breast cancer.
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Corso, Giovanni, Intra, Mattia, Trentin, Chiara, Veronesi, Paolo, and Galimberti, Viviana
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Hereditary diffuse gastric cancer is an autosomal dominant inherited disease associated of CDH1 germline mutations (that encodes for the E-cadherin protein), and lobular breast cancer is the second most frequent type of neoplasia. Recently, novel E-cadherin constitutional alterations have been identified in pedigree clustering only for lobular breast carcinoma without evidence of diffuse gastric tumors and in absence of BRCA1/2 mutations. This first evidence opens novel questions about the inherited correlation between diffuse gastric and lobular breast cancers. In this brief review we revise the literature data about the CDH1 mutation frequency affecting exclusively lobular breast cancer, providing clinical recommendation for asymptomatic mutation carriers. [ABSTRACT FROM AUTHOR]
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- 2016
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81. E-Cadherin expression in human tumors: a tissue microarray study on 10,851 tumors
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Patrick Lebok, Frank Jacobsen, Andrea Hinsch, Guido Sauter, Andreas Marx, Waldemar Wilczak, Christoph Fraune, Rainer Krech, Franziska Büscheck, Christian Bernreuther, Natalia Gorbokon, Andreas M. Luebke, Claudia Hube-Magg, Anne Menz, Sarah Minner, Stefan Steurer, Ronald Simon, Doris Höflmayer, Sören Weidemann, Eike Burandt, Felix Lübbersmeyer, David Dum, Till Krech, Martina Kluth, Ria Uhlig, Katharina Möller, and Till S. Clauditz
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0301 basic medicine ,Colorectal cancer ,Clinical Biochemistry ,Lobular carcinoma ,Lobular breast cancer ,RM1-950 ,CDH1 ,03 medical and health sciences ,Prostate cancer ,0302 clinical medicine ,medicine ,TMA ,Renal cell cancer ,Tissue microarray ,biology ,Merkel cell carcinoma ,business.industry ,Research ,Biochemistry (medical) ,Cancer ,E-cadherin ,Neoplastic tissue ,medicine.disease ,Immunohistochemistry ,030104 developmental biology ,030220 oncology & carcinogenesis ,Cancer research ,biology.protein ,Molecular Medicine ,Therapeutics. Pharmacology ,business ,Clear cell - Abstract
Background The E-Cadherin gene (CDH1, Cadherin 1), located at 16q22.1 encodes for a calcium-dependent membranous glycoprotein with an important role in cellular adhesion and polarity maintenance. Methods To systematically determine E-Cadherin protein expression in normal and cancerous tissues, 14,637 tumor samples from 112 different tumor types and subtypes as well as 608 samples of 76 different normal tissue types were analyzed by immunohistochemistry in a tissue microarray format. Results E-Cadherin was strongly expressed in normal epithelial cells of most organs. From 77 tumor entities derived from cell types normally positive for E-Cadherin, 35 (45.5%) retained at least a weak E-Cadherin immunostaining in ≥99% of cases and 61 (79.2%) in ≥90% of cases. Tumors with the highest rates of E-Cadherin loss included Merkel cell carcinoma, anaplastic thyroid carcinoma, lobular carcinoma of the breast, and sarcomatoid and small cell neuroendocrine carcinomas of the urinary bladder. Reduced E-Cadherin expression was linked to higher grade (p = 0.0009), triple negative receptor status (p = 0.0336), and poor prognosis (p = 0.0466) in invasive breast carcinoma of no special type, triple negative receptor status in lobular carcinoma of the breast (p = 0.0454), advanced pT stage (p = 0.0047) and lymph node metastasis in colorectal cancer (p p p = 0.0104) and was associated with advanced tumor stage (p = 0.0276) and higher grade (p = 0.0035) in clear cell RCC, and linked to advanced tumor stage (p = 0.0424) and poor prognosis in papillary RCC (p ≤ 0.05). Conclusion E-Cadherin is consistently expressed in various epithelial cancers. Down-regulation or loss of E-Cadherin expression in cancers arising from E-Cadherin positive tissues as well as E-Cadherin neo-expression in cancers arising from E-Cadherin negative tissues is linked to cancer progression and may reflect tumor dedifferentiation.
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- 2021
82. CDH1 Gene Mutation Hereditary Diffuse Gastric Cancer Outcomes: Analysis of a Large Cohort, Systematic Review of Endoscopic Surveillance, and Secondary Cancer Risk Postulation
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Cecily Stockley, Morag G. Ryan, Stuart R Bursey, Matthew G.K. Benesch, Carrie L Howard, Andrew C O'Connell, and Alexander Mathieson
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Oncology ,Cancer Research ,medicine.medical_specialty ,lobular breast cancer ,Gene mutation ,cancer risk ,Article ,03 medical and health sciences ,0302 clinical medicine ,Breast cancer ,Germline mutation ,Internal medicine ,Epidemiology ,medicine ,RC254-282 ,Cambridge Protocol ,CDH1 ,business.industry ,gastric cancer ,Hazard ratio ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,E-cadherin ,Retrospective cohort study ,medicine.disease ,030220 oncology & carcinogenesis ,Adenocarcinoma ,030211 gastroenterology & hepatology ,Hereditary diffuse gastric cancer ,mutation ,business - Abstract
Simple Summary Some patients carry a mutated copy of the CDH1 gene that can lead to a very rare form of hereditary gastric cancer called signet-ring cell adenocarcinoma (SRCC). SRCCs rarely form visible tumors prior to spreading. Hence, patients are recommended to have prophylactic gastrectomies at a young age. Many patients wish to avoid surgery and thus have regular checks with upper endoscopy with biopsies to rule out cancer. Further, these patients may also be at risk of other cancers beyond the already known breast cancer risks, but this is not known. In this study, we show that despite systematic biopsy protocols, many early cancers might be missed on endoscopy. Therefore, patients should not rely on endoscopy to delay surgery. These patients may also be at increased risk of colorectal SRCC, which has very poor survival outcomes. To confirm this, we need a central database that captures outcomes for this patient population. Abstract Hereditary diffuse gastric cancer (HDGC) is a rare signet-ring cell adenocarcinoma (SRCC) linked to CDH1 (E-cadherin) inactivating germline mutations, and increasingly other gene mutations. Female CDH1 mutation carriers have additional risk of lobular breast cancer. Risk management includes prophylactic total gastrectomy (PTG). The utility of endoscopic surveillance is unclear, as early disease lacks macroscopic lesions. The current systematic biopsy protocols have unknown efficacy, and other secondary cancer risks are postulated. We conducted a retrospective study of consecutive asymptomatic HDGC patients undergoing PTG, detailing endoscopic, pathologic, and outcome results. A systematic review compared endoscopic biopsy foci detection via random sampling versus Cambridge Protocol against PTG findings. A population-level secondary-cancer-risk postulation among sporadic gastric SRCC patients was completed using the Surveillance, Epidemiology, and End Results database. Of 97 patients, 67 underwent PTG, with 25% having foci detection on random endoscopic biopsy despite 75% having foci on final pathology. There was no improvement in the endoscopic detection rate by Cambridge Protocol. The postulated hazard ratio among sporadic gastric SRCC patients for a secondary colorectal SRCC was three-fold higher, relative to conventional adenocarcinoma patients. Overall, HDGC patients should not rely on endoscopic surveillance to delay PTG, and may have secondary SRCC risks. A definitive determination of actual risk requires collaborative patient outcome data banking.
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- 2021
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83. Frequency of CDH1 Germline Mutations in Non-Gastric Cancers
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Giorgio Favia, Paolo Veronesi, Carlo La Vecchia, Giulia Massari, Nickolas Peradze, Giovanni Corso, and Francesca Magnoni
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0301 basic medicine ,Cancer Research ,Lobular breast cancer ,Review ,medicine.disease_cause ,03 medical and health sciences ,0302 clinical medicine ,Breast cancer ,Germline mutation ,CDH1 mutation ,Genetic predisposition ,medicine ,Missense mutation ,diffuse gastric cancer ,RC254-282 ,Genetic testing ,Mutation ,medicine.diagnostic_test ,business.industry ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,Cancer ,medicine.disease ,030104 developmental biology ,Oncology ,hereditary cancer ,030220 oncology & carcinogenesis ,Cancer research ,Hereditary diffuse gastric cancer ,business - Abstract
Simple Summary Diffuse gastric cancer is the hallmark of the hereditary diffuse gastric cancer syndrome related with the E-cadherin germline mutations. Other cancers (non-gastric) are described in association with the CDH1 gene germline alterations. In this study, we aimed to assess the overall frequency of CDH1 mutations in non-gastric tumors reported in literature so far. Abstract Hereditary Diffuse Gastric Cancer (HDGC) is a complex inherited syndrome caused by CDH1 germline mutations. DGC is the hallmark cancer of this genetic predisposition, but several other cancers are associated with these CDH1 mutations. In this review, we revised all studies reporting CDH1 mutations in non-GC patients. The selected studies included: (a) families aggregating with GC and other cancers, both, and (b) families presenting only non-gastric tumors association. Among non-gastric tumors, our results show that CDH1 mutations are most frequently identified in breast cancer. The frequency of missense mutations is higher in the non-GC group, as the age at diagnosis in this group. Moreover, the predominant CDH1 mutation affects the extracellular domain. Our data suggest that CDH1 genetic testing should be considered also in other cancers, especially breast tumors.
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- 2021
84. Clinical criteria revision for hereditary lobular breast cancer associated with E-cadherin germline mutations.
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Corso, Giovanni, De Scalzi, Alessandra, Feroce, Irene, Veronesi, Paolo, Bonanni, Bernardo, and Galimberti, Viviana
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- 2018
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85. Multidisciplinary management of CDH1 germinal mutation and prophylactic management hereditary lobular breast cancer: A case report
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Davide Lombardi, Maurizio Ulgelmo, Francesca Pellini, Maya Lorenzi, Giovanni Paolo Pollini, Alessandra Invento, Eleonora Granuzzo, Marina Caldana, Sara Mirandola, and Beatrice Accordini
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medicine.medical_specialty ,Lobular carcinoma ,Lobular breast cancer ,030230 surgery ,Article ,03 medical and health sciences ,0302 clinical medicine ,Breast cancer ,Case report ,medicine ,Mammography ,Breast MRI ,skin and connective tissue diseases ,Bilateral Prophylactic Mastectomy ,Prophylactic bilateral mastectomy ,CDH1 ,medicine.diagnostic_test ,business.industry ,Cancer ,medicine.disease ,030220 oncology & carcinogenesis ,Surgery ,Radiology ,Hereditary diffuse gastric cancer ,Breast reconstruction ,business - Abstract
Highlights • Currently, there is no indication to perform prophylactic mastectomy in CDH1 mutation carriers: breast surveillance is recommended. • To reduce the psychological impact due to bilateral prophylactic mastectomy, that is followed by immediate breast reconstruction. • A full multidisciplinary team is crucial for the management of patients with CDH1 mutation., Introduction Germline CDH1 mutations, classically associated with hereditary diffuse gastric cancer (HDGC), also imply an increased lifetime risk of developing lobular breast cancer (LBC) in a highly penetrant autosomal dominant manner. Presentation of case We report a 44-year-old woman CDH1 mutation carrier with a strong family history of cancer, who previously had prophylactic total gastrectomy. We registered normal findings at the breast and axilla assessment. Mammography, ultrasonography and breast MRI scans were negative for cancer. In our Institute a bilateral prophylactic mastectomy followed by breast reconstruction was performed. Foci of atypical lobular hyperplasia(ALH) and lobular carcinoma in situ (LCIS) were histologically shown. Discussion The current consensus guidelines for women with pathogenic CDH1 mutations recommend annual mammography, ultrasound, breast MRI scans and clinical breast examination starting at the age of 35. Due to the well-documented aggressive behavior of this particular type of cancer, bilateral mastectomy and reconstruction would be more beneficial for this kind of high-risk patients. Conclusion Conflicting evidences and lacking data about the benefits in terms of overall survival, disease-free survival and the long-term outcomes related to prophylactic bilateral mastectomy for CDH1 mutation carriers restrict the instruction for this type of procedure to selected cases, which should always be managed by a multidisciplinary team.
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- 2019
86. Clinical spectrum and pleiotropic nature of CDH1 germline mutations
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Maria Sofia Fernandes, Parry Guilford, Ana Sofia Ribeiro, Patrícia Carneiro, Raquel Seruca, Soraia Melo, Joana Figueiredo, Ana Margarida Moreira, and Joana Paredes
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0301 basic medicine ,Male ,Genotype ,Genetic counseling ,hereditary diffuse gastric cancer (hdgc) ,Cleft Lip ,lobular breast cancer ,Ectropion ,Breast Neoplasms ,cleft lip/palate ,Biology ,medicine.disease_cause ,Bioinformatics ,Germline ,CDH1 ,03 medical and health sciences ,0302 clinical medicine ,Breast cancer ,Germline mutation ,Antigens, CD ,Stomach Neoplasms ,Genetics ,medicine ,Cancer Genetics ,Humans ,Genetic Predisposition to Disease ,cdh1 mutation ,Genetics (clinical) ,Alleles ,Genetic Association Studies ,Germ-Line Mutation ,Mutation ,e-cadherin disorders ,Tooth Abnormalities ,Cancer ,Cell Differentiation ,medicine.disease ,Cadherins ,3. Good health ,Cleft Palate ,030104 developmental biology ,Cell Transformation, Neoplastic ,030220 oncology & carcinogenesis ,biology.protein ,Female ,Hereditary diffuse gastric cancer - Abstract
CDH1encodes E-cadherin, a key protein in adherens junctions. Given that E-cadherin is involved in major cellular processes such as embryogenesis and maintenance of tissue architecture, it is no surprise that deleterious effects arise from its loss of function. E-cadherin is recognised as a tumour suppressor gene, and it is well established thatCDH1genetic alterations cause diffuse gastric cancer and lobular breast cancer—the foremost manifestations of the hereditary diffuse gastric cancer syndrome. However, in the last decade, evidence has emerged demonstrating thatCDH1mutations can be associated with lobular breast cancer and/or several congenital abnormalities, without any personal or family history of diffuse gastric cancer. To date, no genotype–phenotype correlations have been observed. Remarkably, there are reports of mutations affecting the same nucleotide but inducing distinct clinical outcomes. In this review, we bring together a comprehensive analysis ofCDH1-associated disorders and germline alterations found in each trait, providing important insights into the biological mechanisms underlying E-cadherin’s pleiotropic effects. Ultimately, this knowledge will impact genetic counselling and will be relevant to the assessment of risk of cancer development or congenital malformations inCDH1mutation carriers.
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- 2019
87. Methylation biomarkers for pleomorphic lobular breast cancer - a short report.
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Moelans, Cathy, Vlug, Eva, Ercan, Cigdem, Bult, Peter, Buerger, Horst, Cserni, Gabor, Diest, Paul, and Derksen, Patrick
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L-form bacteria , *METHYLATION , *BIOMARKERS , *BREAST cancer , *CANCER invasiveness - Abstract
Background: Pleomorphic invasive lobular cancer (pleomorphic ILC) is a rare variant of ILC that is characterized by a classic ILC-like growth pattern combined with an infiltrative ductal cancer (IDC)-like high nuclear atypicality. There is an ongoing discussion whether pleomorphic ILC is a dedifferentiated form of ILC or in origin an IDC with a secondary loss of cohesion. Since gene promoter hypermethylation is an early event in breast carcinogenesis and thus may provide information on tumor progression, we set out to compare the methylation patterns of pleomorphic ILC, classic ILC and IDC. In addition, we aimed at analyzing the methylation status of pleomorphic ILC. Methods: We performed promoter methylation profiling of 24 established and putative tumor suppressor genes by methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) analysis in 20 classical ILC, 16 pleomorphic ILC and 20 IDC cases. Results: We found that pleomorphic ILC showed relatively low TP73 and MLH1 methylation levels and relatively high RASSF1A methylation levels compared to classic ILC. Compared to IDC, pleomorphic ILC showed relatively low MLH1 and BRCA1 methylation levels. Hierarchical cluster analysis revealed a similar methylation pattern for pleomorphic ILC and IDC, while the methylation pattern of classic ILC was different. Conclusion: This is the first report to identify TP73, RASSF1A, MLH1 and BRCA1 as possible biomarkers to distinguish pleomorphic ILC from classic ILC and IDC. [ABSTRACT FROM AUTHOR]
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- 2015
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88. High frequency of lobular breast cancer in distant metastases to the orbit.
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Raap, Mieke, Antonopoulos, Wiebke, Dämmrich, Maximilian, Christgen, Henriette, Steinmann, Diana, Länger, Florian, Lehmann, Ulrich, Kreipe, Hans, and Christgen, Matthias
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BREAST cancer , *METASTASIS , *DISEASE prevalence , *ONCOLOGY ,EYE-socket tumors - Abstract
Metastasis to the periocular soft tissue of the orbit is a rare manifestation of metastatic cancer. Infiltrating lobular breast cancer (ILBC) is a special breast cancer subtype, which accounts for 10-15% of all mammary carcinomas and for ~1% of all malignancies. Here, we report on a high frequency of lobular breast cancer in patients with orbital metastases identified in an original series of metastatic tumor specimens and by a systematic literature review. A series of 14 orbital metastases was compiled from formalin-fixed paraffin-embedded archival tissues. All cases were subjected to histological re-review and detailed immunophenotypical characterization. In addition, we performed a meta-analysis of 68 previously published case reports describing orbital metastases, with special reference to breast cancer subtypes. Based on clinical history, histomorphology, immunophenotype, and/or comparison with matched primary tumors, orbital metastases were derived from breast cancer in 8/14 cases, seven of which were classified as metastatic lobular breast cancer. Other entities included non-small cell lung cancer (4/14), infiltrating ductal breast cancer (1/14), prostate cancer (1/14) and adenocarcinoma of the esophagus (1/14). In line with this original series of orbital metastases, lobular breast cancer was the most common malignancy in 72 patients with orbital metastases described in 68 independent case reports. In conclusion, lobular breast cancer represents the cancer subtype with the highest prevalence among orbital metastases. The high frequency of ILBC in orbital metastases illustrates the special metastatic behavior of this tumor entity and may have implications for the understanding of the organotropism of metastatic lobular breast cancer. [ABSTRACT FROM AUTHOR]
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- 2015
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89. Invasive lobular carcinoma of the breast: the increasing importance of this special subtype
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Lauren Kalinowski, Sunil R. Lakhani, Amy E. McCart Reed, and Peter T. Simpson
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Gene Expression ,Lobular breast cancer ,Breast Neoplasms ,Review ,Disease ,lcsh:RC254-282 ,Lobular ,Diagnosis, Differential ,03 medical and health sciences ,0302 clinical medicine ,Breast cancer ,Stroma ,Surgical oncology ,Pathology ,Biomarkers, Tumor ,Tumor Microenvironment ,Humans ,Medicine ,Lobular neoplasia ,skin and connective tissue diseases ,LCIS ,Neoplasm Staging ,030304 developmental biology ,0303 health sciences ,business.industry ,HER2 negative ,Genomics ,lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,Prognosis ,medicine.disease ,Carcinoma, Lobular ,Progesterone Receptor Positive ,Phenotype ,ILC ,Drug Resistance, Neoplasm ,030220 oncology & carcinogenesis ,Invasive lobular carcinoma ,Mutation ,Disease Progression ,Cancer research ,Female ,Disease Susceptibility ,Neoplasm Grading ,business ,Lobular Neoplasia - Abstract
Invasive lobular carcinoma (ILC) is the most common of the breast cancer special types, accounting for up to 15% of all breast cancer cases. ILCs are noted for their lack of E-cadherin function, which underpins their characteristic discohesive growth pattern, with cells arranged in single file and dispersed throughout the stroma. Typically, tumours are luminal in molecular subtype, being oestrogen and progesterone receptor positive, and HER2 negative. Since last reviewing the lobular literature (McCart Reed et al., Breast Cancer Res 17:12, 2015), there has been a considerable increase in research output focused on this tumour type, including studies into the pathology and management of disease, a high-resolution definition of the genomic landscape of tumours as well as the evolution of several potential therapeutic avenues. There abounds a huge amount of new data, which we will review herein.
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- 2021
90. Identificación de marcadores moleculares predictores de respuesta a la quimioterapia neoadyuvante en el carcinoma lobulillar invasivo
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Pardo Robles, Rosa María, Universitat Autònoma de Barcelona. Facultat de Medicina, and Torre Fernandez de Vega, Francisco Javier de la
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Càncer de mama lobulillar ,Marcadors predictors de resposta ,Marcadores predictores de respuesta ,Response predictive markers ,Cáncer de mama lobulillar ,Lobular breast cancer ,Neoadjuvant chemotherapy ,Quimioteràpia neoadjuvant ,Quimioterapia neoadyuvante - Abstract
Introducció: El CLI representa el segon tipus més freqüent dels càncers de mama invasius. Aquest es considera una entitat específica diferent del CITNE, però avui dia les recomanacions terapèutiques són les mateixes per a tots dos tipus histològics. Les pacients amb diagnòstic de CLI, es troben freqüentment en estadis avançats, això fa que se'ls recomani la QTN al pla terapèutic. Tot i que actualment els beneficis d'aquesta no són clars, ja que molts CLI solen mostrar escassa resposta a la QTN, especialment els fenotips Luminals. Els CLI amb fenotips immunohistoquímics TN o HER2 positius presenten taxes més altes de resposta a la QTN. Introducción: El CLI representa el segundo tipo más frecuente de los cánceres de mama invasivos. Éste se considera una entidad especifica distinta al CITNE, pero hoy en día las recomendaciones terapéuticas son las mismas para ambos tipos histológicos. A las pacientes con diagnóstico de CLI, al encontrarse frecuentemente en estadios avanzados, se les recomienda la QTN en el plan terapéutico. No obstante, actualmente los beneficios de ésta no están claros, ya que muchos CLIs suelen mostrar escasa respuesta a la QTN, especialmente los fenotipos Luminales. Los CLI con fenotipos inmunohistoquímicos TN o HER2 positivos presentan tasas más altas de respuesta a la QTN. Objetivo: Identificar marcadores moleculares y/o genómicos que sean predictores de respuesta a la quimioterapia neoadyuvante en el tratamiento del CLI. Hipótesis: En el CLI en estadios II/III son marcadores moleculares predictores conocidos de respuesta a la QTN los fenotipos TN o HER2+ con Ki67 alto. En los CLI estadio II/III con fenotipo Luminal podrían ser marcadores moleculares predictores de respuesta a la QTN la presencia de TILs altos, PDL-1 + o el alto riesgo de recurrencia/grado genómico calculado por 4 plataformas genómicas seleccionas. Metodología: Se realizará un ensayo clínico no aleatorizado multicéntrico, en el que se evaluará y comparará la respuesta a la QTN de los CLI en estadio II/III del grupo de pacientes con fenotipos HER2+ o TN con Ki67 alto (Grupo C: control); con el grupo de pacientes de CLI fenotipo luminal con TILs altos, PDL-1+ o alto riesgo de recurrencia/grado genómico calculado por las plataformas seleccionadas (Grupo E experimental). Introduction: CLI represents the second most frequent type of invasive breast cancer. This is considered a specific entity different from CITNE, but the therapeutic recommendations are the same for both histological types. Frequently, CLI is diagnosed in advanced stages, so that, QTN is recommended in the therapeutic plan. However, currently the benefits of this are not clear, CLIs tend to show poor response to QTN, especially Luminal phenotypes. CLI TN or HER2-positive have higher rates of response to QTN.
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- 2021
91. Lobular Breast Cancer: A Review
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A. Diana, Olga Oikonomidou, Natalie Wilson, and Alastair J. Ironside
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0301 basic medicine ,Oncology ,medicine.medical_specialty ,Cancer Research ,diagnosis ,Lobular Breast Carcinoma ,lobular breast cancer ,Estrogen receptor ,Pathological response ,Review ,lcsh:RC254-282 ,03 medical and health sciences ,0302 clinical medicine ,Breast cancer ,Internal medicine ,medicine ,skin and connective tissue diseases ,treatment ,business.industry ,Endocrine therapy ,imaging ,medicine.disease ,lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,body regions ,030104 developmental biology ,030220 oncology & carcinogenesis ,Invasive lobular carcinoma ,business ,molecular features - Abstract
Invasive lobular carcinoma accounts for 5%–15% of all invasive breast cancers, with a marked increase in incidence rates over the past two decades. Distinctive biological hallmarks of invasive lobular carcinoma include the loss of cell adhesion molecule E-cadherin leading to cells with a discohesive morphology, proliferating into single-file strands and estrogen receptor positivity. These key molecular features can make diagnosis difficult, as invasive lobular carcinoma is challenging to detect both physically and with current standard imaging. Treatment of invasive lobular carcinoma strongly favors endocrine therapy due to low chemosensitivity and lower rates of pathological response as a result. This review will summarize the distinct biological and molecular features of invasive lobular carcinoma, focusing on the diagnostic challenges faced and the subsequent surgical and medical management strategies. Prospective therapeutic options will also be explored, highlighting how furthering our understanding of the unique biology of lobular breast carcinoma is essential in guiding and informing the treatment of patients in the future.
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- 2021
92. ПЕРСТНЕВИДНОКЛЕТОЧНЫЙ РАК ЖЕЛУДКА. ВОЗМОЖНОСТИ ЦИТОЛОГИЧЕСКОЙ ДИАГНОСТИКИ. КЛИНИЧЕСКИЙ СЛУЧАЙ
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hereditary diffuse gastric cancer ,immunocytochemistry ,наследственный диффузный рак желудка ,метастазы ,FISH ,diffuse gastric cancer ,lobular breast cancer ,флуоресцентная гибридизация in situ ,metastases ,диффузный рак желудка ,дольковый рак молочной железы ,иммуноцитохимическая диагностика - Abstract
Применение тонкоигольной аспирационной пункционной биопсии (ТИАБ) с последующим цитологическим и иммуноморфологическим исследованиями позволяет в кратчайшие сроки определить гистогенез опухоли. В статье представлен клинический случай перстневидноклеточного рака желудка и долькового рака молочной железы с метастатическим поражением лимфатических узлов, плевральной и брюшной полостей. В статье описан опыт проведения иммуноцитохимического исследования онкопротеина Her2 и выполненной на цитологическом материале флуоресцентной гибридизации in situ (FISH fluorescence in situ hybridization) для оценки Her2-статуса опухоли., The use of fine-needle aspiration biopsy with subsequent cytological and immunomorphological examination allows to determine the histogenesis of the tumor in the shortest time. The article presents a clinical case of signet ring cell gastric carcinoma and lobular breast cancer with metastatic lesions of the lymph nodes, pleural and abdominal cavities. The article describes the experience of Her2-oncoprotein immunocytochemical analysis and fluorescent in situ hybridization (FISH) performed on cytological samples to assess the Her2-status of the tumor.
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- 2021
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93. Survival patterns of invasive lobular and invasive ductal breast cancer in a large population-based cohort with two decades of follow up
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Swedish western, Per Karlsson, Zakaria Einbeigi, Helena Fohlin, Chaido Chamalidou, L-G Arnesson, Bo Nordenskjöld, Erik Holmberg, Anna Nordenskjöld, Per Albertsson, and Barbro Linderholm
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Oncology ,medicine.medical_specialty ,Large population ,Improved survival ,Lobular breast cancer ,Breast Neoplasms ,Rate ratio ,Excess mortality rate ratio ,Internal medicine ,Relative survival rate ,medicine ,Humans ,skin and connective tissue diseases ,RC254-282 ,Aged ,Cancer och onkologi ,Relative survival ,business.industry ,Carcinoma, Ductal, Breast ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,General Medicine ,Ductal breast cancer ,Prognosis ,medicine.disease ,Well differentiated ,Invasive ductal breast cancer ,body regions ,Carcinoma, Lobular ,Invasive lobular carcinoma ,Cancer and Oncology ,Cohort ,Original Article ,Female ,Surgery ,business ,Follow-Up Studies - Abstract
Background Invasive lobular carcinoma (ILC) comprises 8–15 % of all invasive breast cancers and large population-based studies with >10 years of follow-up are rare. Whether ILC has a long-time prognosis different from that of invasive ductal carcinoma, (IDC) remains controversial. Purpose To investigate the excess mortality rate ratio (EMRR) of patients with ILC and IDC and to correlate survival with clinical parameters in a large population-based cohort. Material and methods From 1989 through 2006, we identified 17,481 patients diagnosed with IDC (n = 14,583) or ILC (n = 2898), younger than 76 years from two Swedish Regional Cancer Registries. Relative survival (RS) during 20 years of follow up was analysed. Results ILC was significantly associated with older age, larger tumours, ER positivity and well differentiated tumours. We noticed an improved survival for patients with ILC during the first five years, excess mortality rate ratio (EMRR) 0.64 (CI 95 % 0.53–0.77). This was shifted to a significant decreased survival 10–15 years after diagnosis (EMRR 1.49, CI 95 % 1.16–1.93). After 20 years the relative survival rates were similar, 0.72 for ILC and 0.73 for IDC. Conclusions During the first five years after surgery, the EMRR was lower for patients with ILC as compared to patients with IDC, but during the years 10–15 after surgery, we observed an increased EMRR for patients with ILC as compared to IDC. These EMRR between ILC and IDC were statistically significant but the absolute difference in excess mortality between the two groups was small., Highlights • This is a large population-based study with more than 17,000 patients with a follow up exciding 20 years. • There is clinically important differences between invasive lobular and ductal carcinoma of the breast. • Lobular carcinoma shows better survival during the first period but significantly worse at the late period of observation.
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- 2021
94. Vitamin D and Histological Features of Breast Cancer: Preliminary Data from an Observational Retrospective Italian Study
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Stefano Lello, Anna Capozzi, Lorenzo Scardina, Lucia Ionta, Roberto Sorge, Giovanni Scambia, and Gianluca Franceschini
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histology ,breast cancer ,Settore MED/06 - ONCOLOGIA MEDICA ,ductal breast cancer ,lobular breast cancer ,Medicine (miscellaneous) ,vitamin D ,in situ breast cancer - Abstract
Background: Vitamin D (vitD) may be involved in different extraskeletal conditions as well as skeletal muscle diseases. It has been hypothesized that, at least in part, a low level of vitD could contribute to facilitating cancer development. Breast cancer (BC) seems to be associated with low levels of vitD. Materials and methods: This was an observational retrospective evaluation of 87 women (mean age: 54 ± 12 years old) who underwent surgery for the treatment of BC. Our main purpose was to correlate the types of BC and the levels of vitD. Results: A positive significant correlation (R > 0.7) was found between non-invasive carcinoma in situ and 25(OH)D levels and age (R = 0.82, p < 0.05). A positive, but nonsignificant, correlation was reported between invasive ductal carcinoma and 25(OH)D and age (R = 0.45, p > 0.05). A negative but nonsignificant correlation was found between invasive lobular carcinoma and 25(OH)D and age (R = 0.24, p > 0.05). Discussion and Conclusions: We did not find a significant relationship between vitD and BC subtypes. Considering the positive significant correlation between vitD levels and age for in situ BC, although preliminary, our results seem to suggest a possible role of vitD in in situ BC. However, these findings need to be confirmed in larger studies.
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- 2022
95. New Therapeutic Approaches for Invasive Lobular Carcinoma.
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Hwang, E.
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Invasive lobular carcinoma (ILC) is the second most common histological subtype among newly diagnosed breast cancers. The clinical features of ILC are related to the underlying biology of this disease, which is distinguished by loss of the cell adhesion protein e-cadherin. The resulting poorly cohesive growth pattern is responsible for the comparatively poor detection of ILC both on imaging and palpation. Recent genomic and proteomic discoveries have identified other molecular features of ILC which may lead to its future treatment with more targeted therapy. The presentation, treatment, and outcome of ILC is reviewed and future research directions are considered. [ABSTRACT FROM AUTHOR]
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- 2014
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96. Prevalence of PALB2 mutation c.509_510delGA in unselected breast cancer patients from Central and Eastern Europe.
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Noskowicz, Monika, Bogdanova, Natalia, Bermisheva, Marina, Takhirova, Zalina, Antonenkova, Natalia, Khusnutdinova, Elza, Bremer, Michael, Christiansen, Hans, Park-Simon, Tjoung-Won, Hillemanns, Peter, and Dörk, Thilo
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Inherited mutations in PALB2 are known to be associated with increased breast cancer risk. We aimed to investigate the prevalence and risk association of a recurrent PALB2 mutation, c.509_510delGA, among 3,924 unselected breast cancer patients from Belarus, Russia or Germany. High-resolution melting analyses and direct sequencing identified the c.509_510delGA allele in 3/1,008 (0.3 %) German breast cancer patients, 2/994 (0.2 %) Russian breast cancer patients and 5/1,922 (0.3 %) Byelorussian breast cancer patients. Breast tumours were mainly estrogen receptor positive and included both ductal and lobular histology. Only one of the ten patients had a first-degree family history of breast cancer. The mutation was not detected in 2,827 healthy females from the same populations, confirming the association of PALB2*c.509_510delGA with breast cancer risk ( p = 0.007). These data indicate that the PALB2*c.509_510delGA mutation is prevalent in about 1 in 400 breast cancer patients from Central and Eastern Europe, and the low occurrence of familial clustering is consistent with a moderate penetrance of this mutation. [ABSTRACT FROM AUTHOR]
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- 2014
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97. Lobular Breast Cancer: Pathology, Biology, and Options for Clinical Intervention.
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Vlug, Eva, Ercan, Cigdem, Wall, Elsken, Diest, Paul, and Derksen, Patrick
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Lobular carcinoma is a breast cancer subtype comprising approximately 15 % of all breast cancer cases. Clinical diagnosis of this subtype is difficult due to a characteristic growth pattern that inhibits detection using palpation or standard X-ray mammography. While clinical intervention based on hormone antagonists has proven an effective strategy, hormone receptor negative or nonresponsive disease cannot be treated successfully, indicating the need for alternative curative approaches. In contrast to its well-defined histopathological characteristics that were first recognized a century ago, the surface of the underlying biology has only recently been scratched. Progress was made in understanding the biology of the disease, which will hopefully have its impact on future treatment modalities and initiate development of novel intervention strategies. Here, we review the pathological and molecular features of lobular breast cancer and report on the currently known mechanisms that control disease development and progression. Finally we will reflect on past, present, and future treatment options. [ABSTRACT FROM AUTHOR]
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- 2014
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98. Identification of clinical, pathological and molecular predictors of prognosis in early-stage invasive lobular breast cancer: role of proliferation and CDK4/6 pathway
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Carbognin, Luisa
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Settore MED/06 - Oncologia Medica ,lobular breast cancer, prognosis, next-generation sequencing ,lobular breast cancer ,next-generation sequencing ,prognosis - Published
- 2020
99. Multimodality imaging in lobular breast cancer: Differences in mammography, ultrasound, and MRI in the assessment of local tumor extent and correlation with molecular characteristics.
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Dołęga-Kozierowski B, Lis M, Marszalska-Jacak H, Koziej M, Celer M, Bandyk M, Kasprzak P, Szynglarewicz B, and Matkowski R
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Introduction: Invasive lobular breast cancer (ILC) is a diagnostic challenge due to the diversity of morphological features. The objective of the study was to investigate the presentation and local extent of ILC using various imaging techniques and to assess the correlation between imaging and molecular profile., Materials and Methods: We reviewed 162 consecutive patients with ILC found on vacuum-assisted biopsy, who underwent evaluation of the lesion morphology and extent using ultrasound (US), mammography (MMG), and magnetic resonance imaging (MRI). Radiographic features were compared with ILC intrinsic subtype based on the expression of Ki-67 and estrogen, progesterone, and HER2 receptors., Results: A total of 113 mass lesions and 49 non-mass enhancements (NMEs) were found in MRI. Masses were typically irregular and spiculated, showing heterogeneous contrast enhancement, diffusion restriction, and type III enhancement curve. NMEs presented mainly as the area of focal or multiregional distribution with heterogeneous or clumped contrast enhancement, diffusion restriction, and type III enhancement curve. Lesion extent significantly varied between MRI and MMG/ultrasonography (USG) (P < 0.001) but did not differ between MGF and ultrasonography (USG). The larger the ILC, the higher the disproportion when lesion extent in MRI was compared with MMG (P < 0.001) and ultrasonography (USG) (P < 0.001). In the study group, there were 97 cases of luminal A subtype (59.9%), 54 cases of luminal B HER2- (33.3%), nine cases of luminal B HER2+ (5.5%), and two cases of triple negative (1.2%). The HER2 type was not found in the study group. We did not observe any significant correlation between molecular profile and imaging., Conclusion: MRI is the most effective technique for the assessment of ILC local extent, which is important for optimal treatment planning. Further studies are needed to investigate if the intrinsic subtype of ILC can be predicted by imaging features on MRI., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Dołęga-Kozierowski, Lis, Marszalska-Jacak, Koziej, Celer, Bandyk, Kasprzak, Szynglarewicz and Matkowski.)
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- 2022
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100. Rare Presentation of Breast Cancer
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Figueiredo, Luísa Martins, Horta, David Valadas, and Reis, Jorge A.
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Metástases do colon ,Cancro da mama lobular ,Lobular breast cancer ,Colon metastases ,skin and connective tissue diseases - Abstract
Breast cancer is the most common tumour in women. Only 5-15% of breast cancer patients have distant metastases at diagnosis. Here we describe the case of a previously healthy 43-year-old woman with nausea, postprandial epigastric pain, and constipation as the first clinical presentation of breast cancer. Total colonoscopy revealed colon metastases and the immunohistochemical profile favoured primitive invasive lobular carcinoma of the breast. Gastrointestinal tract metastases are more frequent in lobular histology of breast cancer. Stomach and small intestine are the most common metastatic sites, while colon metastases are a rare occurrence. A neoplasia da mama é o tumor mais comum no sexo feminino. Apenas 5 a 15% dos casos apresentam metástases ao diagnóstico. Descrevemos o caso de uma mulher de 43 anos de idade, com apresentação inaugural de cancro da mama manifestada por náuseas, epigastralgia pós prandial e obstipação. A colonoscopia revelou metástases do cólon e o perfil imuno-histoquímico da histologia favoreceu o diagnóstico de neoplasia primitiva da mama, do tipo carcinoma lobular. As metástases do trato gastrointestinal são mais frequentes na histologia lobular de cancro da mama. O estômago e o intestino delgado são os locais mais frequentes de metastização, sendo as metástases do cólon uma ocorrência rara.
- Published
- 2019
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