9 results on '"Juan C. Gomez-Gelvez"'
Search Results
2. Gene fusion characterisation of rare aggressive prostate cancer variants-adenosquamous carcinoma, pleomorphic giant-cell carcinoma, and sarcomatoid carcinoma: an analysis of 19 cases
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Sean R. Williamson, Steven C. Smith, Kiril Trpkov, Mohamed Alhamar, Nicole D. Riddle, Nilesh S. Gupta, Liang Cheng, Lisa J. Whiteley, Ondrej Hes, Michael Ittmann, Dhananjay Chitale, Yuan Gao, Shannon Carskadon, Laura Favazza, Juan C. Gomez-Gelvez, Ali M. Alani, I. Tudor Vladislav, and Nallasivam Palanisamy
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0301 basic medicine ,Giant Cell Carcinoma ,Male ,Proto-Oncogene Proteins B-raf ,Histology ,Oncogene Proteins, Fusion ,Adenosquamous carcinoma ,Biology ,Pathology and Forensic Medicine ,Fusion gene ,03 medical and health sciences ,Prostate cancer ,Carcinoma, Adenosquamous ,0302 clinical medicine ,Transcriptional Regulator ERG ,medicine ,Carcinoma ,Humans ,Neoplasm Metastasis ,Sarcomatoid carcinoma ,Carcinoma, Renal Cell ,In Situ Hybridization, Fluorescence ,Aged ,Aged, 80 and over ,Gene Rearrangement ,Serine Endopeptidases ,High-Throughput Nucleotide Sequencing ,Prostatic Neoplasms ,Carcinoma, Giant Cell ,General Medicine ,Middle Aged ,medicine.disease ,Immunohistochemistry ,DNA-Binding Proteins ,030104 developmental biology ,030220 oncology & carcinogenesis ,Cancer research ,Adenocarcinoma ,Gene Fusion ,Erg ,Transcription Factors - Abstract
Aims To evaluate the molecular underpinnings of the rare aggressive prostate cancer variants adenosquamous carcinoma, pleomorphic giant-cell carcinoma, and sarcomatoid carcinoma. Methods and results We retrieved 19 tumours with one or more variant(s), and performed ERG immunohistochemistry, a next-generation sequencing assay targeting recurrent gene fusions, and fluorescence in-situ hybridisation (FISH) for ERG and BRAF. Divergent differentiation included: sarcomatoid carcinoma (n = 10), adenosquamous carcinoma (n = 7), and pleomorphic giant-cell carcinoma (n = 7). Five patients had more than one variant. Four had variants only in metastases. ERG rearrangement was detected in nine (47%, seven via sequencing, showing TMPRSS2-ERG fusions and one GRHL2-ERG fusion, and two via FISH, showing rearrangement via deletion). ERG was immunohistochemically positive in the adenocarcinoma in eight of nine (89%) patients, but was immunohistochemically positive in the variant in only five of nine patients (56%, typically decreased). One patient had a false-positive ERG immunohistochemical result in the sarcomatoid component despite a negative FISH result. Two (11%) harboured BRAF fusions (FAM131A-BRAF and SND1-BRAF). Conclusions ERG fusions are present in these rare prostate cancer variants with a frequency close to that in conventional prostate cancer (9/19, 47%). ERG immunohistochemistry usually detects rearrangement in the adenocarcinoma, but is less sensitive for the variant histology, with weak to negative staining. Adenosquamous and sarcomatoid variants can, particularly, occur together. Molecular assessment may be an additional tool in selected cases to confirm the prostatic origin of unusual tumours. The presence of two BRAF rearrangements suggests that this gene fusion may be enriched in this setting, as RAF kinase fusions have been previously reported in 1-2% of prostate cancers.
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- 2020
3. Small B-Cell Lymphomas With and Without Plasmacytic Differentiation
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Kedar V. Inamdar and Juan C. Gomez-Gelvez
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medicine.medical_specialty ,Pathology ,Follicular lymphoma ,Biology ,medicine.disease ,Lymphoma ,medicine.anatomical_structure ,Molecular genetics ,medicine ,Monoclonal B-cell lymphocytosis ,Mantle cell lymphoma ,Bone marrow ,Lymph node ,B cell - Abstract
Among all mature B-cell neoplasms, the group of small B-cell lymphomas with or without plasmacytic differentiation encompasses several subtypes in which the neoplastic cells constitute a clonal population of predominantly small lymphocytes. Depending on the specific subtype, these lymphomas may show varying degrees of plasmacytic differentiation. Each subtype in this group is characterized by distinct clinical, morphologic, immunophenotypic, and genetic features which are important for precise diagnosis and classification. The majority of these lymphomas are lymph node based; however, extranodal sites such as bone marrow, peripheral blood, and spleen are frequently involved. Precise classification is crucial given their distinct clinical behavior. For example, mantle cell lymphoma is an aggressive disease that often requires therapy, whereas patients with other small B-cell lymphoma subtypes generally have an indolent clinical course and may survive for many years without therapy. With recent advances in molecular genetics, new knowledge about the biology of these diseases has contributed to the development of more refined diagnostic, prognostic, and therapeutic schemes, many of which have been incorporated in the 2017 revised 4th edition of the World Health Organization’s (WHO) classification of hematopoietic tumors. This chapter will focus on the common small mature B-cell lymphomas providing a practical approach for diagnosis and classification.
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- 2020
4. An Unusual Case of Cholesterol Granuloma of the Orbit
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Juan C. Gomez-Gelvez, W.B. Chwang, M. Christianson, and P. Doshi
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Physics ,Cholesterol granuloma ,Unusual case ,Astronomy ,Radiology, Nuclear Medicine and imaging ,Orbit (control theory) - Published
- 2016
5. Concomitant BCR-ABL1 positive chronic myelogenous leukemia emerging in a patient with MPL W515L associated primary myelofibrosis
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Elena Ivan, Megan S. Lim, Juan C. Gomez-Gelvez, and Bryan L. Betz
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Cell ,Chromosomal translocation ,medicine.disease_cause ,Pathology and Forensic Medicine ,Myeloproliferative neoplasms ,03 medical and health sciences ,0302 clinical medicine ,Myeloproliferative Disorders ,MPL W515L ,medicine ,lcsh:Pathology ,Myelofibrosis ,Mutation ,business.industry ,medicine.disease ,BCR-ABL1 ,medicine.anatomical_structure ,Primary myelofibrosis ,030220 oncology & carcinogenesis ,Concomitant ,Immunology ,Bone marrow ,business ,Chronic myelogenous leukemia ,030215 immunology ,lcsh:RB1-214 - Abstract
Myeloproliferative neoplasms (MPNs) are clonal hematopoietic stem cell disorders characterized by proliferation of one or more cell lineages in the bone marrow. At present, the main criterion in the 2008 World Health Organization classification of MPNs is the presence of an underlying genetic abnormality. These mutations are generally mutually exclusive except for rare reports in the literature. We report for the first time a detailed analysis of the clinical, histologic and cytogenetic/molecular features of a patient who initially presented with MPL W515L positive primary myelofibrosis and over the course of five years developed an MPN associated with both BCR-ABL1 and MPL W515L mutation. We discuss the diagnostic challenges and therapeutic implications of concomitant BCR-ABL1 translocation with MPL W515L mutation. Multiple genetic alterations may simultaneously coexist in patients exhibiting features of myeloproliferative disorders.
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- 2016
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6. Reed-Sternberg–Like Cells in Non-Hodgkin Lymphomas
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Juan C. Gomez-Gelvez and Lauren B. Smith
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Pathology ,medicine.medical_specialty ,T-Lymphocytes ,Biology ,Immunophenotyping ,Pathology and Forensic Medicine ,Diagnosis, Differential ,stomatognathic system ,immune system diseases ,hemic and lymphatic diseases ,Biomarkers, Tumor ,medicine ,Classical Hodgkin lymphoma ,Humans ,Reed-Sternberg Cells ,Lymph node ,B-Lymphocytes ,Atypical cells ,Lymphoma, Non-Hodgkin ,General Medicine ,medicine.disease ,Hodgkin Disease ,Lymphoma ,Medical Laboratory Technology ,medicine.anatomical_structure ,Reed–Sternberg cell ,Differential diagnosis - Abstract
Large atypical cells with morphologic and immunophenotypic features resembling Reed-Sternberg cells can be seen in the background of reactive lymphadenopathies as well as non-Hodgkin lymphomas. The presence of these cells is an important diagnostic pitfall that must be recognized by pathologists who regularly interpret lymph node biopsies. A thorough evaluation of the morphologic and immunophenotypic features of these cells and the cellular milieu is crucial in achieving the correct diagnosis. In this review, examples of lymphomas presenting with Reed-Sternberg–like cells will be provided. Additionally, a detailed description of the common morphologic and immunophenotypic features of these cells, as well as strategies that can be used to distinguish them from the Reed-Sternberg cells of classical Hodgkin lymphoma, will be emphasized.
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- 2015
7. Comparative Analysis Reveals Potential Utility of Digital Microscopy in the Evaluation of Peripheral Blood Smears With Some Barriers to Implementation
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Kathryn Foucar, Oleksandr N. Kryvenko, Kedar V. Inamdar, Devon Chabot-Richards, Juan C. Gomez-Gelvez, and Kristin H. Karner
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Microscopy ,medicine.medical_specialty ,Blood Cells ,High magnification ,business.industry ,Magnification ,General Medicine ,Triage ,Peripheral blood ,Surgery ,Blood smear ,Expert opinion ,Image Interpretation, Computer-Assisted ,medicine ,Humans ,Medical physics ,business ,Digital microscopy - Abstract
Objectives: Evaluation of the peripheral blood smear (PBS) is an essential diagnostic test in current medical practice. We aimed to evaluate the use of digital microscopy for the examination of PBS as an option to provide expert interpretation to remote sites and in “on-call” situations. Methods: We collected 100 Wright-Giemsa–stained PBS slides representing normal and abnormal findings seen at a community-based hospital. Four hematopathologists independently evaluated the cases using conventional light and digital microscopy. Results: When comparing digital vs light microscopy, most of the cellular features evaluated showed at least a moderate degree of agreement in at least three of the reviewers. Discrepancies in final diagnosis were identified in a minority of the cases, most of which were attributed to the poorer resolution of digital microscopy at high magnification (×400). Conclusions: These results support the limited use of digital microscopy for evaluation and triage of peripheral blood smears as a practical option to obtain expert opinion in locations where experienced staff is not available on site. Our results indicate that while digital microscopy is well suited for basic triage of these blood smears, limitations in quality of imaging at higher magnification as well as large file size may limit its utility in certain settings and situations.
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- 2015
8. Prognostic Impact of Tumor Microenvironment in Diffuse Large B-Cell Lymphoma Uniformly Treated With R-CHOP Chemotherapy
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Sherrie L. Perkins, Juan C. Gomez-Gelvez, Matthew O. Leavitt, Mohamed E. Salama, and Kedar V. Inamdar
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Oncology ,Male ,Pathology ,medicine.medical_treatment ,Kaplan-Meier Estimate ,Antibodies, Monoclonal, Murine-Derived ,0302 clinical medicine ,Antineoplastic Combined Chemotherapy Protocols ,Tumor Microenvironment ,Aged, 80 and over ,General Medicine ,Middle Aged ,Prognosis ,Chemotherapy regimen ,Immunohistochemistry ,Vincristine ,030220 oncology & carcinogenesis ,Area Under Curve ,Rituximab ,Female ,Lymphoma, Large B-Cell, Diffuse ,medicine.drug ,Adult ,medicine.medical_specialty ,Cyclophosphamide ,Sensitivity and Specificity ,Disease-Free Survival ,03 medical and health sciences ,Young Adult ,Internal medicine ,medicine ,Biomarkers, Tumor ,Humans ,Aged ,Proportional Hazards Models ,Chemotherapy ,Tumor microenvironment ,business.industry ,medicine.disease ,Lymphoma ,ROC Curve ,Doxorubicin ,Tissue Array Analysis ,Prednisone ,business ,Diffuse large B-cell lymphoma ,030215 immunology - Abstract
Objectives: We evaluated the prognostic impact of cell-of-origin classification as well as intratumoral regulatory T cells (Tregs), macrophages, and microvessel density (MVD) on 115 patients (74 in the training set and 41 in the validation set) diagnosed with de novo diffuse large B-cell lymphoma (DLBCL) and uniformly treated with rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone (R-CHOP) chemotherapy. Methods: The prognostic impact of Tregs, macrophages, and MVD was evaluated using FOXP3, CD68, and CD34 immunohistochemical stains, respectively. In addition, we designed a scoring system where 1 point was awarded per each adverse prognostic factor, including non–germinal center B-cell–like subtype, FOXP3 17% or more, CD68 less than 2%, and MVD less than 800 vessels/mm2. Results: Although only MVD was statistically significant on multivariate analysis, the scoring system significantly segregated patients into low- and high-risk groups. Patients having two or more adverse prognostic factors (high-risk group) demonstrated significantly worse event-free and progression-free survivals in the training set and event-free survival in the validation set. Conclusions: The concomitant evaluation of cell of origin along with tumor microenvironment components identifies patients with DLBCL treated with R-CHOP chemotherapy portraying a worse prognosis.
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- 2016
9. 999 CAN QUANTITATION AND SUB-CATEGORIZATION OF EXTRAPROSTATIC EXTENSION AT RADICAL PROSTATECTOMY PREDICT BIOCHEMICAL RECURRENCE?
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Juan C. Gomez-Gelvez, Nilesh S. Gupta, Mani Menon, Wooju Jeong, Jay Jhaveri, Khurshid R. Ghani, Mireya Diaz-Insua, Jesse D. Sammon, and Quoc-Dien Trinh
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Biochemical recurrence ,medicine.medical_specialty ,Categorization ,business.industry ,Prostatectomy ,Urology ,medicine.medical_treatment ,medicine ,Extraprostatic extension ,business - Published
- 2012
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