113 results on '"Angel Santos-Briz"'
Search Results
2. Severe cutaneous drug reaction associated with enfortumab vedotin
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Cabanillas-Cabral, Adolfo A, Terron, Angel Santos-Briz, Rodriguez-Conde, Sergio, Canueto-Alvarez, Javier, and Conde-Ferreiros, Alberto
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advanced ,adverse reaction ,cancer ,cutaneous ,enfortumab vedotin ,urothelial - Published
- 2024
3. Integrated analysis of mismatch repair system in malignant astrocytomas.
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Irene Rodríguez-Hernández, Juan Luis Garcia, Angel Santos-Briz, Aurelio Hernández-Laín, Jose María González-Valero, Juan Antonio Gómez-Moreta, Oscar Toldos-González, Juan Jesús Cruz, Javier Martin-Vallejo, and Rogelio González-Sarmiento
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Medicine ,Science - Abstract
Malignant astrocytomas are the most aggressive primary brain tumors with a poor prognosis despite optimal treatment. Dysfunction of mismatch repair (MMR) system accelerates the accumulation of mutations throughout the genome causing uncontrolled cell growth. The aim of this study was to characterize the MMR system defects that could be involved in malignant astrocytoma pathogenesis. We analyzed protein expression and promoter methylation of MLH1, MSH2 and MSH6 as well as microsatellite instability (MSI) and MMR gene mutations in a set of 96 low- and high-grade astrocytomas. Forty-one astrocytomas failed to express at least one MMR protein. Loss of MSH2 expression was more frequent in low-grade astrocytomas. Loss of MLH1 expression was associated with MLH1 promoter hypermethylation and MLH1-93G>A promoter polymorphism. However, MSI was not related with MMR protein expression and only 5% of tumors were MSI-High. Furthermore, the incidence of tumors carrying germline mutations in MMR genes was low and only one glioblastoma was associated with Lynch syndrome. Interestingly, survival analysis identified that tumors lacking MSH6 expression presented longer overall survival in high-grade astrocytoma patients treated only with radiotherapy while MSH6 expression did not modify the prognosis of those patients treated with both radiotherapy and chemotherapy. Our findings suggest that MMR system alterations are a frequent event in malignant astrocytomas and might help to define a subgroup of patients with different outcome.
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- 2013
- Full Text
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4. Primary Cutaneous Marginal Zone Lymphoproliferative Disorder of Donor Origin after Allogeneic Hematopoietic Stem Cell Transplantation
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Lía Bejarano, Jose María Sayagués, Miguel Alcoceba, Ana Balanzategui, Lucia Lopez-Corral, Javier Cañueto, and Angel Santos-Briz
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Dermatology ,General Medicine ,Pathology and Forensic Medicine - Published
- 2023
5. High-risk mucosal human papillomavirus-associated squamous cell carcinoma of the fingers presents distinctive clinicopathological characteristics and outcomes: a bicentric retrospective study
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Ignasi Marti-Marti, Xavier Bosch-Amate, Daniel Morgado-Carrasco, Raquel Albero-González, Angel Santos-Briz, Laura Puebla-Tornero, Leonor Revelles-Peñas, Javier Cañueto, Llúcia Alòs, and Agustí Toll
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Dermatology - Abstract
BackgroundHigh-risk mucosal human papillomavirus (HR-HPV) seems to play a role in cutaneous squamous cell carcinoma (cSCC), particularly in nail tumours, where genitodigital transmission has been suggested. The role of HR-HPV in nonungual cSCC of the finger needs to be clarified.AimTo evaluate the prevalence, clinicopathological characteristics, surrogates and outcomes of HR-HPV in cSCC of the finger.MethodsThis was an observational bicentric study including patients with an excised in situ or invasive cSCC located on the finger. Differences in HR-HPV and non-HR-HPV tumours were evaluated.ResultsForty-five patients (45 tumours) were included. HR-HPV was detected in 33% of cases (22% HPV type 16). The mean age was lower in patients with HR-HPV than in those with non-HR-HPV (62·4 vs. 81·1 years, P = 0·001). HR-HPV tumours were smaller (10 mm vs. 15 mm, P = 0·07) and more frequently intraepidermal (60% vs. 20%, P = 0·004). The absence of elastosis (P = 0·030) and inflammation (P = 0·026) and the presence of basaloid morphology (P = 0·003) were surrogates of HR-HPV detection. Mean p16 positivity was 61% in HR-HPV and 36% in non-HR-HPV tumours (P = 0·061). Recurrence after surgery was more common in HR-HPV tumours (58% vs. 34%), although this was not statistically significant. HR-HPV was detected in 27% of the nonungual tumours.ConclusionHR-HPV-associated cSCC of the finger appears in younger patients, is smaller and is less infiltrative than non-HR-HPV tumours. The presence of a basaloid morphology and the absence of elastosis and inflammation could be used as markers for HR-HPV detection. The high prevalence of HR-HPV in nonungual cSCC suggests its aetiopathogenic role in these tumours.
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- 2022
6. Papular xanthomas in untreated folliculotropic mycosis fungoides: a case report and literature review
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Myriam Viedma-Martinez, Jesus Garcia-Dorado, Francisco Javier Diaz-De la Pinta, Marta Conde-Ferreiros, Maria Sanchez-Lazcano, Monica Martins-Lopes, and Angel Santos-Briz
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Dermatology - Abstract
Following a recent report of xanthomas arising in a patient treated with etoposide for mycosis fungoides (MF), we present a similar patient with xanthomas and MF, who had not received any treatment. Further studies are needed to elucidate the origin and pathophysiology of normocholesterolaemic xanthomas associated with MF.
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- 2022
7. Lymphomatoid contact dermatitis caused by <scp> Anemonia viridis </scp> sting
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Myriam Viedma‐Martinez, Gonzalo Gallo‐Pineda, Alicia Jimenez‐Anton, Jesus Garcia‐Dorado, Pilar Alonso‐Fraile, and Angel Santos‐Briz
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Immunology and Allergy ,Dermatology - Published
- 2023
8. Granulomas en dermatopatología: principales entidades. Parte II
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E. Rozas Muñoz, V. Velasco Benito, Mar Llamas-Velasco, Onofre Sanmartín, E. Ríos-Viñuela, Carlos Monteagudo, J. Aróstegui Aguilar, Javier Fraga, Juan J. Ríos-Martín, R. Carrillo Gijón, M.J. Beato Merino, Carles Saus, N. Pérez Muñoz, Angel Santos-Briz, A. Diago, J. Onrubia, M.T. Fernández Figueras, J.M. Suárez Peñaranda, A. García Herrera, M.A. Idoate Gastearena, A. Christian Laga, Carlos Santonja, N. Martínez Campayo, Maria C. Garrido, Angel Fernandez-Flores, and J.L. Rodríguez Peralto
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medicine.medical_specialty ,medicine.diagnostic_test ,business.industry ,Fairly Often ,Langhans giant cell ,General Medicine ,medicine.disease ,Dermatology ,Giant cell ,Touton giant cell ,Infectious disease (medical specialty) ,Granuloma ,Skin biopsy ,Medicine ,Dermatopathology ,business - Abstract
Part 2 of this series on granulomatous diseases focuses on skin biopsy findings. Whereas the first part treated noninfectious conditions (metabolic disorders and tumors, among other conditions), this part mainly deals with various types of infectious disease along with other conditions seen fairly often by clinical dermatologists.
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- 2021
9. Granulomas en dermatopatología: principales entidades. Parte I
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J.M. Suárez Peñaranda, J. Aróstegui Aguilar, M.J. Beato Merino, Mar Llamas-Velasco, V. Velasco Benito, Carlos Monteagudo, N. Pérez Muñoz, N. Martínez Campayo, E. Rozas Muñoz, Javier Fraga, M.A. Idoate Gastearena, Angel Fernandez-Flores, A. Diago, A. Christian Laga, Onofre Sanmartín, M.T. Fernández Figueras, A. García Herrera, Maria C. Garrido, R. Carrillo Gijón, Angel Santos-Briz, J.L. Rodríguez Peralto, Carles Saus, Carlos Santonja, Juan J. Ríos-Martín, E. Ríos-Viñuela, and J. Onrubia
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medicine.medical_specialty ,business.industry ,Langhans giant cell ,General Medicine ,medicine.disease ,Dermatology ,Necrobiosis lipoidica ,Clinical Practice ,Giant cell ,Rosacea ,Touton giant cell ,hemic and lymphatic diseases ,Granuloma ,Medicine ,Dermatopathology ,business - Abstract
This series of 2 articles on dermatopathologic diagnoses reviews conditions in which granulomas form. Part 1 clarifies concepts, discusses the presentation of different types of granulomas and giant cells, and considers a large variety of noninfectious diseases. Some granulomatous diseases have a metabolic origin, as in necrobiosis lipoidica. Others, such as granulomatous mycosis fungoides, are related to lymphomas. Still others, such as rosacea, are so common that dermatologists see them nearly daily in clinical practice.
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- 2021
10. Clinical and histopathological evaluation of 50 acantholytic cutaneous squamous cell carcinomas: Analysis outcome in a retrospective case‐control study
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Javier Cañueto, David Revilla-Nebreda, Alberto Conde-Ferreirós, Angel Santos-Briz, Concepción Román-Curto, David Moyano-Bueno, Leonor Revelles-Peñas, Sara Becerril-Andrés, and Instituto de Salud Carlos III
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Male ,Pathology ,medicine.medical_specialty ,Skin Neoplasms ,Histology ,Cell ,Dermatology ,Skincancer ,Acantholytic squamous cell carcinoma ,Pathology and Forensic Medicine ,Infiltrative Growth Pattern ,Interquartile range ,medicine ,Humans ,Retrospective Studies ,Aged, 80 and over ,Tumor size ,business.industry ,Acantholysis ,Case-control study ,Margins of Excision ,Cutaneous squamous cell carcinoma ,Prognosis ,medicine.disease ,medicine.anatomical_structure ,Case-Control Studies ,Lymphatic Metastasis ,Cohort ,Carcinoma, Squamous Cell ,Female ,Neoplasm Recurrence, Local ,Skin cancer ,business - Abstract
[Background]: Acantholytic cutaneous squamous cell carcinomas (aCSCCs) have been classically considered as a high-risk variant of CSCC. However, more recent studies show that aCSCC does not confer more aggressiveness. This study aims to establish whether the prognosis of the aCSCC is worse than that of the non-acantholytic (naCSCC) or not. [Methods]: Retrospective case-control study with 50 aCSCCs and 50 naCSCCs. For each aCSCC, an naCSCC with similar high-risk features to the aCSCC but with no acantholysis was selected. Prognosis between both groups was compared. [Results]: The mean age was 86 years (SD 9.61). Sixty-one patients were men. Thirty-nine CSCCs were located in high-risk head and neck areas. Twenty CSCCs exhibited a poor degree of differentiation, and 36 showed an infiltrative growth pattern. The tumor diameter was 18.71 mm (interquartile range, IQR 35), and the tumor thickness was 6.72 mm (IQR 15.50). Twelve CSCCs exhibited perineural infiltration, and eight CSCCs exhibited invasion beyond the subcutaneous fat. Positive margins after excision of the tumor in 22 aCSCCs vs eight naCSCCs (P, Instituto de Salud Carlos III, Grant/Award Number: PI18/000587
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- 2021
11. Histopathology of Dermatologic Complications of Tattoos
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Juan Torre-Castro, Laura Nájera, Dolores Suárez, Diego García-Fresnadillo, Azael Freites-Martínez, Angel Santos Briz, Jose Luis Rodríguez Peralto, and Luis Requena
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Tattooing ,Humans ,Dermatology ,General Medicine ,Skin Diseases ,Pathology and Forensic Medicine - Abstract
Tattoos are characterized by the introduction of exogenous pigments into the dermis. Tattoos usually serve cosmetic purposes, although they may have other causes, such as traumatic pigment implants in accidents or medical-related tattoos in the context of radiotherapy. Dermatologic adverse reactions are relatively uncommon, and they include infections, immune-mediated reactions, cutaneous lesions secondary to the Koebner phenomenon, exacerbation of preexisting dermatosis, benign and malignant neoplasms, and a miscellaneous group of dermatologic conditions that may appear in a preexisting tattoo. The aim of this study is to review the types of histopathologic reactions that may appear in a preexisting permanent tattoo.
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- 2022
12. Dermatopatología de la oclusión intraluminal vascular: parte I (trombos)
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M.A. Idoate Gastearena, J.L. Rodríguez Peralto, Juan J. Ríos-Martín, Yosmar Carolina Pérez-Gónzalez, N. Pérez Muñoz, Angel Santos-Briz, A. García Herrera, Javier Fraga, Carlos Monteagudo, E. Rozas Muñoz, Carlos Santonja, Carles Saus, María J. Garrido, V. Velasco Benito, A. Diago, Onofre Sanmartín, E. Ríos-Viñuela, J. Onrubia, Angel Fernandez-Flores, J.M. Suárez Peñaranda, M.J. Beato Merino, and Mar Llamas-Velasco
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Purpura fulminans ,Cryoagglutinins ,Thrombosis ,Dermatology ,General Medicine ,RC31-1245 ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,Cryoglobulinemia ,RL1-803 ,030220 oncology & carcinogenesis ,Ecthyma gangrenosum ,Cryofibrinogenemia ,Internal medicine - Abstract
Resumen: La patología vascular oclusiva es causante de diversas y variadas manifestaciones clínicas, algunas de las cuales son de catastróficas consecuencias para el paciente. Sin embargo, las causas de tal oclusión son muy variadas, extendiéndose desde trombos por acción descontrolada de los mecanismos de coagulación, hasta anomalías de los endotelios de los vasos u oclusión por materiales extrínsecos. En una serie de dos artículos hacemos una revisión de las principales causas de oclusión vascular, resumiendo sus manifestaciones clínicas principales y los hallazgos histopatológicos fundamentales. Esta primera parte corresponde a las oclusiones vasculares que cursan con trombos. Abstract: Vascular occlusion has multiple, diverse clinical manifestations, some of which can have grave consequences for patients. The causes of vascular occlusion are also highly variable, ranging from thrombi triggered by the uncontrolled activation of coagulation mechanisms, on the one hand, to endothelial dysfunction or occlusion by material extrinsic to the coagulation system on the other. In a 2-part review, we look at the main causes of vascular occlusion and the key clinical and histopathologic findings. In this first part, we focus on vascular occlusion involving thrombi.
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- 2021
13. Protocolo de diagnóstico histológico para muestras de pacientes con melanoma cutáneo. Documento de consenso de la SEAP y la AEDV para el Registro Nacional de Melanoma
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Antonio Tejera-Vaquerizo, Victor Traves, Celia Requena, Carlos Monteagudo, María Teresa Fernández-Figueras, Angel Santos-Briz, Juan J. Ríos-Martín, José Luis Rodríguez-Peralto, M.A. Descalzo-Gallego, and Angel Fernandez-Flores
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medicine.medical_specialty ,Consensus ,Histology ,Venereology ,Modified delphi ,Dermatology ,Pathology and Forensic Medicine ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,Delphi technique ,Medicine ,Registries ,Melanoma ,Internal medicine ,Lymph node ,business.industry ,General Medicine ,Prognosis ,medicine.disease ,RC31-1245 ,Documento De Consenso ,Dissection ,medicine.anatomical_structure ,RL1-803 ,030220 oncology & carcinogenesis ,Cutaneous melanoma ,Lymph ,business - Abstract
Resumen: El presente texto es una propuesta de protocolo de diagnóstico histológico para el melanoma cutáneo realizada a instancias del Registro Nacional de Melanoma de la Academia Española de Dermatología y Venereología. Tras una búsqueda bibliográfica, un grupo de ocho panelistas (siete patólogos) decidieron entre 36 variables del tumor primario, el ganglio centinela y la linfadenectomía incluir un total de 30 variables mediante el método de Delphi modificado. Se han consensuado las variables que deberían contener un informe histológico de melanoma cutáneo para que puedan ser utilizadas en el Registro de Melanoma o servir de modelo para los distintos Servicios de Anatomía Patológica a la hora de elaborar sus propios informes de forma rutinaria. Abstract: This article describes a proposed protocol for the histologic diagnosis of cutaneous melanoma developed for the National Cutaneous Melanoma Registry managed by the Spanish Academy of Dermatology and Venereology (AEDV). Following a review of the literature, 36 variables relating to primary tumors, sentinel lymph nodes, and lymph node dissection were evaluated using the modified Delphi method by a panel of 8 specialists (including 7 pathologists). Consensus was reached on the 30 variables that should be included in all pathology reports for cutaneous melanoma and submitted to the Melanoma Registry. This list can also serve as a model to guide routine reporting in pathology departments.
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- 2021
14. Pseudolymphomatous Atypical Fibroxanthoma
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Alberto Conde-Ferreirós, Rubén Garcia Castro, David Moyano-Bueno, Esther Cardeñoso, Angel Santos-Briz, and Alex Viñolas-Cuadros
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education.field_of_study ,Pathology ,medicine.medical_specialty ,integumentary system ,CD30 ,business.industry ,Population ,Atypical fibroxanthoma ,Dermatology ,General Medicine ,CD15 ,medicine.disease ,Malignancy ,BCL6 ,Pathology and Forensic Medicine ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,hemic and lymphatic diseases ,medicine ,Desmin ,Differential diagnosis ,education ,business - Abstract
Atypical fibroxanthoma is a rare mesenchymal skin tumor of intermediate malignancy that typically occurs on sun-damaged skin of elderly patients. Histologically, it is composed of pleomorphic cells with hyperchromatic nuclei and abundant cytoplasm, commonly arranged in a spindle cell pattern. Different histologic variants have been described during the past years. We present a case of atypical fibroxanthoma containing a dense inflammatory infiltrate, which in conjunction with the existence of immunoblast-like and Reed-Sternberg-like neoplastic cells could be misinterpreted as a lymphoid neoplasm. Immunohistochemical studies revealed strong positivity of tumor cells for CD10 and negativity for cytokeratins, p63, p40, S100, SOX10, ERG, actin, desmin, B and T-cell markers, BCL6, CD15, and CD30. The inflammatory infiltrate contained a mixed reactive T- and B-cell population with negative T-cell receptor and immunoglobulin heavy rearrangements. We discuss the differential diagnosis of this entity in which clinical, immunohistochemical, and molecular features are essential to avoid the diagnosis of a lymphoproliferative disease.
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- 2020
15. Clinical and pathological features of Merkel cell carcinoma: A 4-year follow-up observational retrospective study in Spain
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Juan José Ríos-Martín, Nuria Rodriguez-Salas, Francisco Javier Vázquez-Doval, Beatriz Llombart, Nohelia Rojas-Ferrer, M. Carmen González-Vela, Teresa Zulueta, Carlos Monteagudo, José Aneiros-Fernández, María José Beato, Rosario Carrillo, Mary Yohana Silva-Carmona, María Ayala, Elena Gallego, José Luís Rodríguez-Peralto, Javier Fraga-Fernández, María Teresa Fernández-Figueras, Carlos Barranco, Alicia Córdoba, Alicia Sanz-Zorrilla, Berta Ferrer, Rafael Fúnez, Carlos Santonja, Carlos Saus, Miguel Angel Idoate, Angel Santos-Briz, José Onrubia, Fernando Pinedo, Ramón de las Peñas, and UAM. Departamento de Medicina
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Male ,Cancer Research ,Skin Neoplasms ,Epidemiology ,Medicina ,Features Spain ,Carcinoma, Merkel Cell ,Clinical ,Merkel cell carcinoma ,Oncology ,Merkel cell polyomavirus ,Spain ,Pathological ,Humans ,Follow-Up Studies ,Retrospective Studies - Abstract
Background: Merkel cell carcinoma (MCC) is a malignant skin cancer with a 5-year survival rate of approximately 50%. Knowledge of MCC has increased in recent years mostly due to improved diagnosis techniques. In Spain there is lack of information regarding the incidence and tumour characteristics, and the treatment approaches are not standardised. The objective of this study was to provide information of the clinical and epidemiological characteristics of MCC patients in Spain. Methods: Retrospective, observational study involving 192 patients from 25 Spanish hospitals. Evaluated variables included overall survival and incidence rate of Merkel cell polyomavirus, in patients diagnosed from 2012 to 2016. Results: The Spanish incidence rate was estimated 0.32/100,000 inhabitants/year, with variations according to geographical regions, being slightly higher in areas with greater sunlight exposure. In total, 61.5% of tumours showed expansive growth (progressive growth of the tumour), 78.6% showed localisation in UV-exposed skin. 97.4% of patients were diagnosed by excisional biopsy. Surgery was the first line treatment in 96.6% of patients, radiotherapy in 24.6%, and chemotherapy in 6.3%. These treatments were not mutually exclusive. Median overall survival was 38.3 months (78.4% at 12 months and 60% at 24 months). MCPyV was present in 33.8% of patients. Conclusion: The incidence of MCC in Spain is one of the highest in Europe, with a slight predominance in men. The sample has shown that a biopsy is available for diagnosis in most cases. Moreover, the treatment is surgical when the tumour is localized and is associated with lymphadenectomy, and/or it is radiotherapy if widespread, This study has been developed with GETHI group (Spanish group of orphan and infrequent tumours, from the Spanish Grupo Espanol ˜ de Tumores Hu´erfanos e Infrecuentes) as promotor. This research was financially supported by Merck KGaA, Darmstadt, Germany, as part of an alliance between Merck KGaA and Pfizer. Merck KGaA, Darmstadt, Germany and Pfizer reviewed the manuscript for medical accuracy only before journal submission. The authors are fully responsible for the content of this manuscript, and the views and opinions described in the publication reflect solely those of the authors
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- 2021
16. Value of PD-L1, PD-1, and CTLA-4 Expression in the Clinical Practice as Predictors of Response to Nivolumab and Ipilimumab in Monotherapy in Patients With Advanced Stage Melanoma
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Manuela Yuste, Sofía Del Carmen, Angel Santos-Briz, Concepción Román, Lorena Bellido, Javier Cañueto, María Dolores Ludeña, and Beatriz Barrios
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Oncology ,Adult ,Male ,medicine.medical_specialty ,Skin Neoplasms ,medicine.medical_treatment ,Programmed Cell Death 1 Receptor ,Ipilimumab ,Context (language use) ,Dermatology ,B7-H1 Antigen ,Pathology and Forensic Medicine ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,Antineoplastic Agents, Immunological ,Internal medicine ,PD-L1 ,Biomarkers, Tumor ,Medicine ,Humans ,CTLA-4 Antigen ,Melanoma ,Aged ,Retrospective Studies ,Aged, 80 and over ,biology ,business.industry ,General Medicine ,Immunotherapy ,Middle Aged ,medicine.disease ,Prognosis ,Clinical trial ,Nivolumab ,Treatment Outcome ,CTLA-4 ,biology.protein ,Female ,business ,medicine.drug - Abstract
Background The introduction of immune checkpoint inhibitors (ICI) has improved the survival outcomes of patients with advanced melanoma. To date, only a few studies have evaluated the immunohistochemical (IHC) expression of PD-1 and CTLA-4 in tumor-infiltrating lymphocytes (TILs) as predictive markers of response to ICI, most of them in the context of clinical trials. Moreover, the predictive value of PD-L1 in melanoma cells in the response to immunotherapy is unclear. The aim of our study was to assess the IHC expression of PD-L1, PD-1, and CTLA-4 in samples of patients with advanced melanoma and to establish their prognostic value as predictors of ICI response in a university hospital. Methods The expression of PD-L1, PD-1, and CTLA-4 was evaluated in pretreatment tumor samples in a series of 35 patients, 21 patients treated with nivolumab and 14 patients with ipilimumab in monotherapy. Results In the nivolumab group, 4 tumors (19%) were positive for PD-L1 and all of them showed a partial response to the treatment. However, 4 patients whose tumors did not express PD-L1 also responded to nivolumab. PD-1 expression was not associated with better progression-free survival (PFS). In the ipilimumab group, 5 patients (35.7%) showed expression of CTLA-4. Positive cases showed a better PFS; however, one negative case responded to ipilimumab. Conclusions Nivolumab produces a better response compared with ipilimumab in patients with melanoma. The IHC expression of PD-L1 and CTLA-4 are associated with a higher response rate to nivolumab and ipilimumab, respectively, and better PFS, but the existence of responder patients with negative expression suggests that they are not adequate biomarkers to select candidate patients for ICI in the clinical practice.
- Published
- 2021
17. Perineural Invasion as a Clue to Malignant Behavior in a Dermatofibroma
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José María Sayagués, Juan García-Gavín, Luis Requena, Ievgenia Pastushenko, Angel Santos-Briz, and José Luis Rodríguez-Peralto
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Pathology ,medicine.medical_specialty ,Skin Neoplasms ,Perineural invasion ,Histiocytoma, Malignant Fibrous ,Dermatology ,Dermatofibroma ,Aggressive course ,Pathology and Forensic Medicine ,Lesion ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,medicine ,Humans ,Lung ,Histiocytoma, Benign Fibrous ,business.industry ,Mesenchymal stem cell ,General Medicine ,Middle Aged ,Sciences bio-médicales et agricoles ,medicine.anatomical_structure ,Female ,Lymph ,medicine.symptom ,Skin lesion ,business - Abstract
Dermatofibroma (DF) represents one of the most common mesenchymal proliferations of the skin. Their recurrence rate, even when incompletely excised, is very low, whereas the atypical, aneurysmal, and cellular variants have recurrence rates of up to 20% each. Extraordinary rare malignant lesions with metastases to lymph nodes and/or lung have been described. We report a 64-year-old woman with a long history (years) of a skin lesion on her right arm that became painful during the last months. Histologically, it consisted of a conventional cellular DF in which perineural invasion was present. Subsequently, the lesion showed a clinically aggressive course with recurrences, sarcomatous transformation, and pulmonary metastases. Given that no predictive morphological features have been identified to separate classical benign DF from rare metastasizing forms, perineural invasion in an otherwise conventional DF could be a histopathologic clue for an adverse prognosis and should provoke a closer clinical follow-up., info:eu-repo/semantics/published
- Published
- 2020
18. Indeterminate Dendritic Cell Tumor as Cutaneous Involvement of Chronic Myelomonocytic Leukemia Successfully Treated With Phototherapy
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Mario Medina-Miguelañez, Marta Izquierdo, David Moyano-Bueno, Teresa Martínez, Angel Santos-Briz, María S. García-Sánchez, and Alex Viñolas-Cuadros
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Male ,Pathology ,medicine.medical_specialty ,Skin Neoplasms ,Birbeck granules ,Chronic myelomonocytic leukemia ,Dermatology ,Pathology and Forensic Medicine ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,hemic and lymphatic diseases ,medicine ,Humans ,Indeterminate Cell Histiocytosis ,Chronic ,Aged, 80 and over ,business.industry ,Indeterminate Dendritic Cell Tumor ,Leukemia, Myelomonocytic, Chronic ,General Medicine ,Dendritic cell ,Phototherapy ,medicine.disease ,Myelomonocytic leukemia ,Cutaneous Involvement ,Indeterminate cell histiocytosis ,Langerhans Cells ,Next-generation sequencing ,Indeterminate dendritic cell tumor ,Indeterminate ,business ,Rare disease - Abstract
Indeterminate dendritic cell tumor (IDCT) is a rare disease composed of so-called indeterminate cells, a dendritic cell subset displaying histological and some ultrastructural and immunophenotypic features of Langerhans cells, but lacking Birbeck granules. We report a case of cutaneous IDCT occurring in a patient with chronic myelomonocytic leukemia (CMML) successfully treated with UV-A phototherapy. Next-generation sequencing studies of the CMML demonstrated mutations in TET2, ASXL1, and ZRS2 genes, also detected in the IDCT, demonstrating a clonal relationship between both tumors and confirming IDCT as a specific subtype in the spectrum of CMML-related cutaneous lesions.
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- 2020
19. Xanthomatous Cells in Cutaneous Graft-Versus-Host Disease Biopsies: A Clue for the Diagnosis of Hepatic Graft-Versus-Host Disease
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Angel Santos-Briz, Lucia López, Denise Gamé, and Concepción Román
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Adult ,Male ,medicine.medical_specialty ,Biopsy ,Hypercholesterolemia ,Graft vs Host Disease ,Dermatology ,Disease ,Skin Diseases ,Gastroenterology ,Pathology and Forensic Medicine ,030207 dermatology & venereal diseases ,03 medical and health sciences ,High morbidity ,0302 clinical medicine ,Predictive Value of Tests ,immune system diseases ,Internal medicine ,Xanthomatosis ,Humans ,Medicine ,Child ,Skin ,Hypertriglyceridemia ,Gastrointestinal tract ,business.industry ,Liver Diseases ,Hematopoietic Stem Cell Transplantation ,Histiocytes ,General Medicine ,Middle Aged ,medicine.disease ,Cutaneous graft-versus-host disease ,Immunohistochemistry ,Transplantation ,Haematopoiesis ,surgical procedures, operative ,Graft-versus-host disease ,Liver ,030220 oncology & carcinogenesis ,business - Abstract
Graft-versus-host disease (GVHD) is one of the most common and serious complications of hematopoietic stem-cell transplantation that mainly affects the skin, gastrointestinal tract, and liver. Hepatic GVHD is associated with high morbidity and mortality, and its diagnosis can be especially challenging because of nonspecific clinical signs and symptoms. It must be suspected in patients with elevated liver enzymes and cholestasis, especially in those with a history of preceding skin rash and diarrhea. We describe 3 patients with cutaneous and hepatic GVHD that presented with severe hypercholesterolemia and hypertriglyceridemia, and no xanthomatous macular lesions, in which cutaneous biopsies revealed the presence of xanthomatous dermal histiocytes. We propose that the presence of these xanthomatous cells in skin biopsies from patients with cutaneous GVHD could be a dermatopathological clue for the diagnosis of hepatic GVHD.
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- 2018
20. Dermatomyositis panniculitis: a clinicopathological and immunohistochemical study of 18 cases
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J.L. Díaz-Recuero, C. Moreno, B. Semans, Lorenzo Cerroni, Angel Santos-Briz, A. Carlson, José Luis Rodríguez-Peralto, Luis Requena, Victoria Alegría-Landa, José M. Mascaró, Omar P. Sangueza, Konstantinos Linos, A. Calle, and Dieter Metze
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Adult ,Male ,medicine.medical_specialty ,Pathology ,Panniculitis ,Adolescent ,Biopsy ,Interleukin-3 Receptor alpha Subunit ,Dermatology ,Dermatomyositis ,Inflammatory myopathy ,Young Adult ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,medicine ,Humans ,Muscle, Skeletal ,Hyaline ,Aged ,030203 arthritis & rheumatology ,B-Lymphocytes ,Muscle biopsy ,medicine.diagnostic_test ,business.industry ,Dendritic Cells ,T-Lymphocytes, Helper-Inducer ,Middle Aged ,medicine.disease ,Infectious Diseases ,Lupus Panniculitis ,Female ,Histopathology ,business - Abstract
BackgroundPanniculitis occurring in dermatomyositis is uncommon, with only a few cases described in the literature, most of them as case reports. ObjectiveThis report describes the clinicopathological and immunohistochemical findings in a series of 18 patients with panniculitis associated with dermatomyositis. MethodsIn each patient, we collected the clinical data of the cutaneous lesions as well as the characteristic clinical and laboratory findings. A series of histopathologic findings was recorded in the biopsy of each patient. A panel of antibodies was used in some cases to investigate the immunophenotype of the infiltrate. Data of treatment and follow-up were also collected. ResultsOf the 18 patients, 13 were female and 5 were male, ranging in age from 13 to 74 years (median, 46.4 years). In addition to panniculitis, all patients presented pathognomonic cutaneous findings of DM and reported proximal muscle weakness prior to the diagnosis of panniculitis. Muscle biopsy was performed in 17 patients and MRI in one, all with the diagnosis of inflammatory myopathy. None of the patients presented any associated neoplasia. Panniculitis lesions were located in the upper or lower limbs. Histopathology showed a mostly lobular panniculitis with lymphocytes as the main component of the infiltrate. Most cases showed also numerous plasma cells and lymphocytes surrounding necrotic adipocytes (rimming) were frequently seen. Lymphocytic vasculitis and abundant mucin interstitially deposited between collagen bundles of the dermis were also frequent findings. Late-stage lesions showed hyaline necrosis of the fat lobule and calcification. Immunohistochemistry demonstrated that most lymphocytes of the infiltrate were T-helper lymphocytes, with some B lymphocytes in the lymphoid aggregates and small clusters of CD-123-positive plasmacytoid dendritic cells in the involved fat lobule. ConclusionPanniculitis in dermatomyositis is rare. Histopathologic findings of panniculitis dermatomyositis are identical to those of lupus panniculitis. Therefore, the final diagnosis requires clinic-pathologic correlation. Linked article: This article is commented on by A. Kuhn, pp. 1231-1232 in this issue. To view this article visit
- Published
- 2018
21. Cutaneous Indeterminate Cell Histiocytosis of Donor Origin After Allogeneic Hematopoietic Stem-Cell Transplantation
- Author
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Angel Santos-Briz, Lourdes Vázquez, María Dolores Ludeña, Alvaro de Dios, Concepción Román, and Rocío Corral
- Subjects
Male ,Pathology ,medicine.medical_specialty ,Birbeck granules ,medicine.medical_treatment ,Dermatology ,Hematopoietic stem cell transplantation ,Skin Diseases ,Pathology and Forensic Medicine ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,medicine ,Humans ,Indeterminate Cell Histiocytosis ,business.industry ,Myelodysplastic syndromes ,Hematopoietic Stem Cell Transplantation ,General Medicine ,Dendritic cell ,Middle Aged ,medicine.disease ,Transplantation ,Histiocytosis ,Haematopoiesis ,Myelodysplastic Syndromes ,030220 oncology & carcinogenesis ,business - Abstract
Allogeneic hematopoietic stem-cell transplantation and solid-organ transplantation are associated with an increased risk of secondary neoplasms. Indeterminate cell histiocytosis (ICH) is a rare disease composed of so-called indeterminate cells, an alleged cutaneous dendritic cell subset displaying histological and some ultrastructural and immunophenotypic features of Langerhans cells but lacking Birbeck granules. We report a case of cutaneous ICH occurring after allogeneic hematopoietic stem-cell transplantation for a myelodysplastic syndrome in a 56-year-old man. Microsatellite analysis demonstrated that the neoplastic cells were derived from the donor's hematopoietic system. This case broadens the spectrum of complications after stem-cell transplantation and demonstrates that cutaneous ICH in the setting of myelodysplastic syndromes may have a nonrelated origin to dysplastic myeloid cells.
- Published
- 2017
22. Occlusive Nonvasculitic Vasculopathy
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Heinz Kutzner, Angel Santos-Briz, Luis Requena, Lorenzo Cerroni, Victoria Alegría, and Mar Llamas-Velasco
- Subjects
Disseminated intravascular coagulation ,Pathology ,medicine.medical_specialty ,Hypereosinophilic syndrome ,business.industry ,Thrombotic thrombocytopenic purpura ,Cryofibrinogenemia ,Dermatology ,General Medicine ,Skin Diseases, Vascular ,medicine.disease ,Sneddon syndrome ,Pathology and Forensic Medicine ,Ecthyma gangrenosum ,030207 dermatology & venereal diseases ,03 medical and health sciences ,Purpura ,0302 clinical medicine ,030220 oncology & carcinogenesis ,medicine ,Humans ,medicine.symptom ,Vasculitis ,business - Abstract
We review the most characteristic clinical and histopathologic findings of the cutaneous manifestations of the occlusive nonvasculitic vasculopathic disorders. Clinically, most of these conditions are characterized by retiform purpura. Histopathologic findings consist of occlusion of the vessel lumina with no vasculitis. Different disorders may produce nonvasculitic occlusive vasculopathy in cutaneous blood and lymphatic vessels, including embolization due to cholesterol and oxalate emboli, cutaneous intravascular metastasis from visceral malignancies, atrial myxomas, intravascular angiosarcoma, intralymphatic histiocytosis, intravascular lymphomas, endocarditis, crystal globulin vasculopathy, hypereosinophilic syndrome, and foreign material. Other times, the occlusive disorder is due to platelet pugging, including heparin necrosis, thrombocytosis secondary to myeloproliferative disorders, paroxysmal nocturnal hemoglobinuria, and thrombotic thrombocytopenic purpura. Occlusive vasculopathy may also appear in cold-related gelling agglutination, like that occurring in cryofibrinogenemia, cryoglobulinemia, cold agglutinin syndrome, and crystalglobulinemia. Microorganisms may also occlude the vessels lumina and this is especially frequent in ecthyma gangrenosum, opportunistic fungi as aspergillosis or fusariosis, Lucio phenomenon of lepromatous leprosy and disseminated strongyloidiasis. Systemic coagulopathies due to defects of C and S proteins, coumarin/warfarin-induced skin necrosis, disseminated intravascular coagulation, and antiphospholipid antibody/lupus anticoagulant syndrome may also result in occlusive nonvasculitic vasculopathy. Finally, vascular coagulopathies such as Sneddon syndrome, livedoid vasculopathy, and atrophic papulosis may also cause occlusion of the vessels of the dermis and/or subcutis. Histopathologic study of occlusive vasculopathic lesions is the first step to achieve an accurate diagnosis, and they should be correlated with clinical history, physical examination, and laboratory findings to reach a final diagnosis.
- Published
- 2017
23. Degos disease, not just a scar: lethal outcome in spite of immunomodulatory therapy
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M. Yuste-Chaves, X. Calderón-Castrat, E. Fernández-López, A. Hernández, and Angel Santos-Briz
- Subjects
medicine.medical_specialty ,Pathology ,Thrombotic microangiopathy ,business.industry ,Clinicopathological correlation ,Erythematous papule ,Degos disease ,Dermatology ,Eculizumab ,medicine.disease ,Malignant Atrophic Papulosis ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,Infectious Diseases ,030220 oncology & carcinogenesis ,medicine ,Etiology ,business ,medicine.drug - Abstract
Degos disease (DD) or papulosis atrophicans maligna, is an extremely infrequent thrombotic microangiopathy of unknown etiology(1). Clinically, it is characterized by small erythematous papules with an atrophic center that may simulate a simple scar and distinct histopathological feature that is not always present. Due to the rarity of this entity, diagnosis may go unnoticed with the first onset of cutaneous lesions. Therefore, high clinical suspicion and adequate clinicopathological correlation are required to establish an early diagnosis and consequently treatment. This article is protected by copyright. All rights reserved.
- Published
- 2017
24. Cutaneous Involvement in Adult Multisystemic Langerhans Cell Histiocytosis Successfully Treated With Pulsed Dye Laser
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Angel Santos-Briz, Monica Roncero-Riesco, Ximena Calderón-Castrat, Emilia Fernández-López, and María Teresa Alonso-San Pablo
- Subjects
Pathology ,medicine.medical_specialty ,Biopsy ,Lasers, Dye ,Dermatology ,Nail Diseases ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,Langerhans cell histiocytosis ,Skin Ulcer ,Humans ,Medicine ,Dye laser ,business.industry ,General Medicine ,Middle Aged ,medicine.disease ,Histiocytosis, Langerhans-Cell ,Cutaneous Involvement ,Scalp Dermatoses ,030220 oncology & carcinogenesis ,Axilla ,Female ,Surgery ,Laser Therapy ,business - Published
- 2017
25. Controversies in Intrapatient Melanoma BRAFV600E Mutation Status
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Juan J. Ríos-Martín, Erica Riveiro-Falkenbach, José Luis Rodríguez-Peralto, and Angel Santos-Briz
- Subjects
Proto-Oncogene Proteins B-raf ,0301 basic medicine ,Oncology ,medicine.medical_specialty ,Skin Neoplasms ,Research groups ,endocrine system diseases ,DNA Mutational Analysis ,Dermatology ,Pathology and Forensic Medicine ,03 medical and health sciences ,0302 clinical medicine ,Internal medicine ,Unresolved Issue ,medicine ,Humans ,skin and connective tissue diseases ,Melanoma ,neoplasms ,Genetics ,business.industry ,Mechanism (biology) ,General Medicine ,medicine.disease ,digestive system diseases ,Clinical Practice ,enzymes and coenzymes (carbohydrates) ,030104 developmental biology ,030220 oncology & carcinogenesis ,Mutation ,Mutation (genetic algorithm) ,business - Abstract
Therapies targeting the BRAF oncogene have improved the overall and disease-free survival of patients with advanced melanomas. An unresolved issue in clinical practice is the existence (or not) of BRAF-mutated and BRAF-nonmutated tumors in individual patients (intrapatient BRAF mutation heterogeneity), which may serve as a mechanism of resistance to BRAF inhibitors or lead to diagnostic problems. Different research groups have reported differing results after analyzing the BRAF mutation statuses of multiple melanoma tumors. Herein, we present a brief revision of the literature on this controversial topic and propose a theory to justify the divergence of the results found in the literature.
- Published
- 2017
26. Epidermal growth factor receptor expression is associated with poor outcome in cutaneous squamous cell carcinoma
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Andrés Castellanos-Martín, A. Blanco Gómez, Javier Cañueto, Jesús Pérez-Losada, E. Cardeñoso, Juan Luis García, Angel Santos-Briz, Emilia Fernández-López, Concepción Román-Curto, Ministerio de Ciencia e Innovación (España), European Commission, Instituto de Salud Carlos III, Junta de Castilla y León, Fundación Eugenio Rodríguez Pascual, Instituto de Investigación Biomédica de Salamanca, Obra Social Kutxa, Fundación Sandra Ibarra - Solidaridad Frente al Cáncer, and Ministerio de Economía y Competitividad (España)
- Subjects
Male ,Pathology ,medicine.medical_specialty ,Skin Neoplasms ,Dermatology ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,Risk Factors ,Biomarkers, Tumor ,Carcinoma ,Humans ,Medicine ,Basal cell carcinoma ,Epidermal growth factor receptor ,Stage (cooking) ,Lymph node ,Aged, 80 and over ,biology ,business.industry ,Cancer ,Prognosis ,medicine.disease ,Immunohistochemistry ,ErbB Receptors ,medicine.anatomical_structure ,Real-time polymerase chain reaction ,Lymphatic Metastasis ,030220 oncology & carcinogenesis ,Carcinoma, Squamous Cell ,Disease Progression ,Cancer research ,biology.protein ,Female ,business - Abstract
[Background]: Cutaneous squamous cell carcinoma (CSCC) is the second most frequent cancer in humans after basal cell carcinoma, and its incidence is dramatically rising. CSCC is rarely problematic, but given its high frequency, the absolute number of complicated cases is also high. It is necessary to identify molecular markers in order to recognize those CSCCs with poor prognosis. There is controversy concerning the role of epidermal growth factor receptor (EGFR) as a marker of prognosis in CSCC. In addition, EGFR-targeted therapies have emerged in recent years and a better understanding of the role of EGFR in CSCC may be of help for some patients in predicting prognosis and guiding curative management. [Objectives]: To evaluate the role of EGFR as a prognostic factor in CSCC. [Methods]: We evaluated clinical and histopathological features, including events of poor clinical evolution, in a series of 94 cases of CSCC. We also analysed EGFR expression by immunohistochemistry, fluorescent in situ hybridization and quantitative polymerase chain reaction. [Results]: We detected EGFR in 85 cases (90%), with overexpression in 33 cases (35%), and aberrant EGFR expression in the cytoplasm in 50 cases (53%). EGFR overexpression in the primary tumours was associated with lymph node progression, tumour–nodes–metastasis stage progression and proliferation (Ki-67 staining) in CSCC. EGFR overexpression and poor grade of differentiation were the strongest independent variables defining lymph node metastasis and progression in CSCC in a logistic regression model. [Conclusions]: We demonstrate that EGFR overexpression has prognostic implications associated with lymph node metastasis and progression in CSCC., J.P.‐L. was partially supported by FEDER and MICINN (PLE2009‐119, SAF2014‐56989‐R), Instituto de Salud Carlos III (PI07/0057, PI10/00328, PIE14/00066), Junta de Castilla y León (SAN673/SA26/08, SAN126/SA66/09, SA078A09, CSI034U13, BIO/SA31/15), IBSAL (IBY15/00003), the ‘Eugenio Rodríguez Pascual’, the ‘Fundación Inbiomed’ (Instituto Oncológico Obra Social de la Caja Guipozcoa‐San Sebastian, Kutxa) and the ‘Fundación Sandra Ibarra de Solidaridad frente al Cáncer’. C.R.‐C. is funded by Q3718001E (2009‐2010) and GRS 612/A/11 (2011‐2012) and ‘the Fundación Eugenio Rodríguez Pascual’. A.C.‐M. was supported by FIS (PI07/0057) and MICINN (PLE2009‐119).
- Published
- 2017
27. The expression of podoplanin is associated with poor outcome in cutaneous squamous cell carcinoma
- Author
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Emilia Fernández-López, Adriana Cosano-Quero, Concepción Román-Curto, Ester Cardeñoso-Álvarez, Angel Santos-Briz, Jesús Pérez-Losada, and Javier Cañueto
- Subjects
Pathology ,medicine.medical_specialty ,Histology ,Cutaneous squamous cell carcinoma ,business.industry ,Lymphovascular invasion ,Cancer ,Dermatology ,Disease ,medicine.disease ,Pathology and Forensic Medicine ,Desmoplasia ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,Podoplanin ,Infiltrative Growth Pattern ,030220 oncology & carcinogenesis ,Medicine ,medicine.symptom ,business ,NODAL - Abstract
Background Cutaneous squamous cell carcinoma (CSCC) is the second most frequent cancer in humans and can be both locally invasive and metastatic at distant sites. While research efforts have been made to predict poor outcome of CSCC, there is a lack of knowledge regarding molecular markers. PODOPLANIN has been associated with poor outcome in several types of cancer including CSCC, but this is controversial and only a few studies have evaluated the prognostic implications of Podoplanin in the development of this tumor. Methods We evaluated Podoplanin expression in a series of 94 CSCCs, and searched for associations between Podoplanin expression and histopathological characteristics and with events of poor clinical evolution of the disease. Results Podoplanin expression was observed in 48.9% of the cases and the expression was considered moderate to intense in 19 of the cases. Moderate/intense Podoplanin was associated with infiltrative growth pattern, desmoplasia, and lymphovascular invasion, and with a higher risk of nodal progression and with short disease-free survival, specifically with a short latency to nodal progression. Conclusions This paper provides evidence supporting the implication of Podoplanin expression as a marker of bad prognosis of CSCC.
- Published
- 2016
28. Cutaneous collagenous vasculopathy: papular form
- Author
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Mónica Roncero-Riesco, Concepción Román-Curto, Alberto Conde-Ferreirós, Javier Cañueto, and Angel Santos-Briz
- Subjects
Male ,medicine.medical_specialty ,business.industry ,Microangiopathy ,Erythematous papule ,Torso ,Dermoscopy ,Dermatology ,General Medicine ,Clinical manifestation ,Skin Diseases, Vascular ,medicine.disease ,medicine ,Humans ,medicine.symptom ,Telangiectasia ,business ,Cutaneous collagenous vasculopathy ,Aged - Abstract
Cutaneous collagenous vasculopathy is a rare clinicopathological entity, first described in 2000. Cutaneous collagenous vasculopathy has been considered a form of microangiopathy of superficial dermal vessels and produce lesions that appear as telangiectasia. We present a patient with histopathologic features of cutaneous collagenous vasculopathy and scattered erythematous papules on the trunk with a striking dermatoscopic finding. We propose the term of 'cutaneous papular collagenous vasculopathy' as a new clinical manifestation of this disease.
- Published
- 2019
29. Multiple primary cutaneous plasmacytoma a decade after a nasal solitary extramedullary plasmacytoma: a puzzling case
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Felix López-Cadenas, Maria-Victoria Mateos, J.C. Santos-Durán, Jesús F. San Miguel, Concha Román-Curto, Verónica González-Calle, Emilia Fernández-López, Conrado Jorge-Finnigan, Enrique M. Ocio, Angel Santos-Briz, and Ramón García-Sanz
- Subjects
Pathology ,medicine.medical_specialty ,papules ,Case Report ,Case Reports ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,immune system diseases ,hemic and lymphatic diseases ,medicine ,neoplasms ,Multiple myeloma ,Erythematous‐violaceous ,Lenalidomide ,business.industry ,Bortezomib ,Cutaneous plasmacytoma ,General Medicine ,medicine.disease ,myeloma ,030220 oncology & carcinogenesis ,Primary cutaneous plasmacytoma ,Extramedullary plasmacytoma ,Differential diagnosis ,business ,nodules ,medicine.drug - Abstract
Key Clinical Message Primary cutaneous plasmacytoma should be in the differential diagnosis in case of solitary or multiple erythematous–violaceous nodules or papules. The diagnosis relies on clinical, histological, and immunochemical findings, without underlying evidence of multiple myeloma. Treatment should be individualized, and agents such as bortezomib or lenalidomide have shown to be effective.
- Published
- 2016
30. Intra- and Inter-Tumoral Homogeneity of BRAFV600E Mutations in Melanoma Tumors
- Author
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Yolanda Ruano, Maria C. Garrido, Cándida A. Villanueva, José Luis Rodríguez-Peralto, Erica Riveiro-Falkenbach, Juan J. Ríos-Martín, Angel Santos-Briz, Elena Godoy, Rosa García-Martín, and Pablo L. Ortiz-Romero
- Subjects
Adult ,Male ,Proto-Oncogene Proteins B-raf ,Oncology ,medicine.medical_specialty ,Adolescent ,medicine.medical_treatment ,Tumor initiation ,Dermatology ,Real-Time Polymerase Chain Reaction ,medicine.disease_cause ,Biochemistry ,Targeted therapy ,Internal medicine ,medicine ,Humans ,Melanoma ,Molecular Biology ,Aged ,Aged, 80 and over ,Mutation ,biology ,business.industry ,Cell Biology ,Middle Aged ,medicine.disease ,Immunohistochemistry ,Real-time polymerase chain reaction ,Tumor progression ,biology.protein ,Female ,Antibody ,business - Abstract
The era of targeted therapy has introduced a new therapeutic perspective for melanoma patients. Treatment with BRAFV600 inhibitors has improved overall and disease-free survival in metastatic melanoma patients whose tumors harbor BRAFV600 mutations. Although the BRAFV600E mutation appears to have a critical role in tumor initiation, its expression during tumor progression remains controversial. In fact, various authors claim that BRAFV600E heterogeneity is evident in melanoma tumors. Herein, we investigated the pattern of BRAFV600E expression in matched primary and metastatic samples from 140 patients. Using a combination of real-time PCR and immunohistochemical analyses, we demonstrated that BRAFV600E expression is homogeneous in melanoma tumors and hypothesized that the heterogeneity described by others might be attributable to technical issues when molecular methods are used. We also demonstrated the high efficiency of the anti-BRAFV600E VE1 antibody for the detection of BRAFV600E mutations in melanoma tumors.
- Published
- 2015
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31. Congenital Atrophic Plaque: Fibroblastic Connective Tissue Nevus
- Author
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Beatriz Ingar Carbone, Angel Santos-Briz, Luis Jesús Allemant Ortiz, Alex Orellana Cortez, and Ximena Calderón-Castrat
- Subjects
Male ,medicine.medical_specialty ,Adolescent ,business.industry ,Antigens, CD34 ,Dermoscopy ,Dermatology ,medicine.disease ,Mesenchymal hamartoma ,Diagnosis, Differential ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,030220 oncology & carcinogenesis ,Pediatrics, Perinatology and Child Health ,medicine ,Humans ,Nevus ,Differential diagnosis ,Skin pathology ,business ,Skin ,Connective tissue nevus - Abstract
Fibroblastic connective tissue nevus (FCTN) is a rare, benign, dermal mesenchymal hamartoma that affects children. We report a 15-year-old boy with a congenital FCTN and describe the clinical, dermatoscopic, and histopathologic features.
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- 2017
32. Congenital polypoid cutaneous adnexal and mesenchymal hamartoma: an underdiagnosed entity - Report of two cases
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Esperanza Manrique-Silva, Emilia Fernández-López, Angel Santos-Briz, Cristina Gonzalez-Velasco, and Manuela Yuste
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Pathology ,medicine.medical_specialty ,business.industry ,medicine ,Dermatology ,business ,Mesenchymal hamartoma - Published
- 2017
33. 1093P The features of the tumour microenvironment and the tumour budding identify prognostic subgroups in high-risk cutaneous squamous cell carcinoma
- Author
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Javier Cañueto, Jesús Pérez-Losada, A. Viñolas-Cuadros, Concepción Román-Curto, Luis A. Corchete-Sánchez, Roberto Corchado-Cobos, M. Mendiburu-Eliçade, Natalia García-Sancha, Angel Santos-Briz, and M.E. Cardeñoso-Álvarez
- Subjects
Cutaneous squamous cell carcinoma ,Oncology ,business.industry ,Cancer research ,Medicine ,Tumour budding ,Hematology ,business - Published
- 2020
34. Pápula supraciliar derecha única en paciente con leucemia linfática crónica: importancia del diagnóstico precoz
- Author
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Angel Santos-Briz, Irene Andrés-Ramos, Concepción Román-Curto, and María Siller-Ruiz
- Subjects
0301 basic medicine ,Microbiology (medical) ,03 medical and health sciences ,business.industry ,030106 microbiology ,Medicine ,business - Published
- 2016
35. Crema de imiquimod al 5% en el tratamiento del sarcoma de Kaposi clásico
- Author
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Angel Santos-Briz-Terrón, Luís Carlos Sáez-Martín, Ricardo Suárez-Fernández, and Manuela Yuste-Chaves
- Subjects
business.industry ,Medicine ,Dermatology ,business - Published
- 2015
36. Chronic cutaneous lichenoid graft-versus-host disease at the area of herpes zoster infection and at a vaccination site
- Author
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Javier Cañueto, Irene Palacios-Álvarez, Angel Santos-Briz, C. Jorge-Finnigan, Emilia Fernández-López, and Concepción Román-Curto
- Subjects
Lichenoid Eruptions ,viruses ,Graft vs Host Disease ,Dermatology ,Disease ,medicine.disease_cause ,Herpes Zoster ,Recurrence ,immune system diseases ,Injection site ,medicine ,Humans ,Transplantation, Homologous ,Herpes zoster infection ,Bone Marrow Transplantation ,business.industry ,Hematopoietic Stem Cell Transplantation ,Varicella zoster virus ,virus diseases ,Middle Aged ,medicine.disease ,Vaccination ,surgical procedures, operative ,Graft-versus-host disease ,Influenza Vaccines ,Myelodysplastic Syndromes ,Chronic Disease ,Immunology ,Female ,Complication ,business ,Allogeneic bone marrow transplant - Abstract
Summary Cutaneous graft-versus-host disease (GVHD) is a frequent complication of allogeneic bone marrow transplant and haematopoietic cell transplantation, but it is rarely presented as a Wolf's isotopic response. We report a patient who developed chronic lichenoid GVHD following the dermatomes previously affected by varicella zoster virus (VZV) infection. Nineteen months later, the same patient suffered from reactivation of GVHD at the injection site of an influenza vaccination. We review the literature concerning GVHD appearing after VZV infection and discuss the possible implications of this case and the pathogenic hypotheses.
- Published
- 2015
37. Pagetoid Dyskeratosis in Dermatopathology
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José M. Mir-Bonafé, Emilia Fernandez, Sofía Del Carmen, Javier Cañueto, and Angel Santos-Briz
- Subjects
Adult ,Keratinocytes ,Male ,medicine.medical_specialty ,Skin Neoplasms ,Adolescent ,Acrochordons ,Biopsy ,Dermatology ,Skin Diseases ,Pathology and Forensic Medicine ,Diagnosis, Differential ,Young Adult ,Predictive Value of Tests ,Terminology as Topic ,Eosinophilic ,Humans ,Medicine ,Prospective Studies ,Cell Shape ,Pathological ,Aged ,Cell Size ,medicine.diagnostic_test ,business.industry ,General Medicine ,Middle Aged ,medicine.disease ,Dyskeratosis ,Paget Disease, Extramammary ,Spain ,Pagetoid ,Female ,Dermatopathology ,Epidermis ,Differential diagnosis ,business - Abstract
Pagetoid dyskeratosis (PD) is an incidental pathologic finding that appears in several skin conditions. In an attempt to better understand PD and its incidence in dermatopathology, the authors have analyzed all skin biopsies performed over the period of 1 year in our Department of Dermatology and examined their clinical and dermatopathological variables. The criteria used for a keratinocyte to be considered a PD cell were: (1) a size larger than normal, (2) the presence of pycnotic nucleus, (3) a clear halo surrounding the nucleus, and (4) a pale eosinophilic cytoplasm. A total of 3565 biopsies were analyzed, PD cells being found in 80 cases (2.24%). Melanocytic nevi were the commonest skin lesions in which PD was observed, followed by soft fibromas, angiofibromas, and acrochordons. Most lesions were located on the head, neck, and trunk. Most cases displayed fewer than 15 PD cells per field. PD cells were normally located in the mid epidermis (frequently in clusters). The biopsies usually revealed indirect signs of rubbing, although PD cells were also found in places where rubbing was unlikely. Here, the authors report the largest series of PD analyzed to date, expanding our understanding of this striking pathological observation.
- Published
- 2015
38. Clinicopathologic, Immunohistochemical, and Molecular Features of Histiocytoid Sweet Syndrome
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José Luis Rodríguez-Peralto, Heinz Kutzner, Luis Requena, Lorenzo Cerroni, Victoria Alegría-Landa, Socorro María Rodríguez-Pinilla, Angel Santos-Briz, and Victor Alegre
- Subjects
Adult ,Male ,Pathology ,medicine.medical_specialty ,Myeloid ,Adolescent ,Dermatology ,Hospitals, University ,030207 dermatology & venereal diseases ,03 medical and health sciences ,Myelogenous ,Young Adult ,0302 clinical medicine ,stomatognathic system ,Leukemia, Myelogenous, Chronic, BCR-ABL Positive ,Medicine ,Humans ,Child ,Histiocyte ,Aged ,Retrospective Studies ,Original Investigation ,Sweet's syndrome ,Aged, 80 and over ,business.industry ,Sweet Syndrome ,digestive, oral, and skin physiology ,Leukemia cutis ,food and beverages ,Histiocytes ,Middle Aged ,medicine.disease ,Immunohistochemistry ,Leukemia ,medicine.anatomical_structure ,030220 oncology & carcinogenesis ,Child, Preschool ,Female ,Dermatopathology ,medicine.symptom ,business ,Follow-Up Studies - Abstract
Importance Histiocytoid Sweet syndrome is a rare histopathologic variant of Sweet syndrome. The nature of the histiocytoid infiltrate has generated considerable controversy in the literature. Objective The main goal of this study was to conduct a comprehensive overview of the immunohistochemical phenotype of the infiltrate in histiocytoid Sweet syndrome. We also analyze whether this variant of Sweet syndrome is more frequently associated with hematologic malignancies than classic Sweet syndrome. Design This is a retrospective case series study of the clinicopathologic, immunohistochemical, and molecular features of 33 patients with a clinicopathologic diagnosis of histiocytoid Sweet syndrome was conducted in the dermatology departments of 5 university hospitals and a private laboratory of dermatopathology. Main Outcome and Measures The clinical, histopathological, immunohistochemical, and follow-up features of 33 patients with histiocytoid Sweet syndrome were analyzed. In some cases, cytogenetic studies of the dermal infiltrate were also performed. We compare our findings with those of the literature. Results The dermal infiltrate from the 33 study patients (20 female; median age, 49 years; age range, 5-93 years; and 13 male; median age, 42 years; age range, 4-76 years) was mainly composed of myeloperoxidase-positive immature myelomonocytic cells with histiocytoid morphology. No cytogenetic anomalies were found in the infiltrate except in 1 case in which neoplastic cells of chronic myelogenous leukemia were intermingled with the cells of histiocytoid Sweet syndrome. Authentic histiocytes were also found in most cases, with a mature immunoprofile, but they appeared to be a minor component of the infiltrate. Histiocytoid Sweet syndrome was not more frequently related with hematologic malignancies than classic neutrophilic Sweet syndrome. Conclusions and Relevance The dermal infiltrate of cutaneous lesions of histiocytoid Sweet syndrome is composed mostly of immature cells of myeloid lineage. This infiltrate should not be interpreted as leukemia cutis.
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- 2017
39. Kongenitales polypoides kutanes adnexales und mesenchymales Hamartom: Eine unterdiagnostizierte Entität - Bericht über zwei Fälle
- Author
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Esperanza Manrique-Silva, Emilia Fernández-López, Cristina Gonzalez-Velasco, Manuela Yuste, and Angel Santos-Briz
- Subjects
Gynecology ,medicine.medical_specialty ,Political science ,medicine ,Dermatology - Published
- 2017
40. Detection of human parvovirus B19 DNA in 22% of 1815 cutaneous biopsies of a wide variety of dermatological conditions suggests viral persistence after primary infection and casts doubts on its pathogenic significance
- Author
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Luis Requena, Carlos Santonja, Heinz Kutzner, Angel Santos-Briz, and G. Palmedo
- Subjects
0301 basic medicine ,Adult ,Male ,Pathology ,medicine.medical_specialty ,Myocarditis ,Adolescent ,Viral protein ,Dermatology ,Biology ,medicine.disease_cause ,Polymerase Chain Reaction ,Virus ,law.invention ,Parvoviridae Infections ,030207 dermatology & venereal diseases ,03 medical and health sciences ,Young Adult ,0302 clinical medicine ,law ,Biopsy ,medicine ,Parvovirus B19, Human ,Humans ,Skin Diseases, Infectious ,Child ,Polymerase chain reaction ,Aged ,Skin ,Aged, 80 and over ,medicine.diagnostic_test ,Middle Aged ,medicine.disease ,Human genetics ,030104 developmental biology ,Child, Preschool ,Immunology ,DNA, Viral ,Immunohistochemistry ,Female ,Dermatopathology - Abstract
SummaryBackground Human parvovirus B19 (B19V) has been associated with a number of dermatological and systemic conditions, including myocarditis and autoimmune syndromes. Objectives To determine the frequency of B19V DNA detection in a large dermatopathology practice, and to characterize the histopathological patterns involved. Methods We selected for polymerase chain reaction (PCR) detection of B19V a total of 1815 skin biopsies pertaining to entities allegedly related to B19V, as well as cases suspected clinically of representing paraviral exanthemas. Immunohistochemical detection of B19V viral protein 2 (VP2) was performed in 92 PCR-positive cases. Results B19V DNA was found by PCR in 402 out of 1825 biopsy specimens (22%). VP2 protein was identified by immunohistochemistry in only three instances of papular purpuric ‘gloves-and-socks’ syndrome. Conclusions As the virus has the capacity to persist in different tissues (including the skin) for long periods, it could represent merely an innocent bystander, so no pathogenetic significance can be inferred from the PCR positivity for B19V in the vast majority of dermatological conditions studied.
- Published
- 2017
41. Follicular Mucinosis Associated With Nonlymphoid Skin Conditions
- Author
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Javier Cañueto, José M. Mir-Bonafé, Emilia Fernández-López, and Angel Santos-Briz
- Subjects
Adult ,Male ,Follicular mucinosis ,medicine.medical_specialty ,Lymphoproliferative disorders ,Dermatology ,Skin Diseases ,Cutaneous lymphoma ,Pathology and Forensic Medicine ,Young Adult ,medicine ,Humans ,Young adult ,Alopecia mucinosa ,Aged ,Retrospective Studies ,Aged, 80 and over ,business.industry ,Retrospective cohort study ,General Medicine ,Middle Aged ,Mucinosis, Follicular ,medicine.disease ,Mucinosis ,Female ,business - Abstract
Follicular mucinosis coexisting with lymphoproliferative disorders has been thoroughly debated. However, it has been rarely reported in association with inflammatory disorders.Thirteen cases have been retrieved, and those with cutaneous lymphoma or alopecia mucinosa were excluded.Follicular mucinosis was found in the setting of squamous cell carcinoma, seborrheic keratosis, simple prurigo, acne vulgaris, dextrometorphan-induced phototoxicity, polymorphous light eruption (2 cases), insect bite (2 cases), tick bite, discoid lupus erythematosus, drug-related vasculitis, and demodecidosis. Unexpectedly, our observations revealed a preponderating accumulation of mucin related to photo-exposed areas, sun-associated dermatoses, and histopathologic solar elastosis. The amount of mucin filling the follicles apparently correlated with the intensity of perifollicular inflammatory infiltrate, which was present in all cases. The concurrence of dermal interstitial mucin was found in 7 cases (54%).The concurrence of interstitial dermal mucinosis or the potential role of both ultraviolet radiation and the perifollicular inflammatory infiltrates in its pathogenesis deserves further investigations. Precise recognition and understanding of this distinctive, reactive histological pattern may prevent our patients from unnecessary diagnostic and therapeutic strategies.
- Published
- 2014
42. Funciones sensoriales de la piel: revisión
- Author
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Angel Santos-Briz, Gonzalo Nieto, Emilia Fernández-López, and José M. Mir-Bonafé
- Subjects
business.industry ,Medicine ,Dermatology ,business - Published
- 2014
43. Identification of a characteristic copy number alteration profile by high-resolution single nucleotide polymorphism arrays associated with metastatic sporadic colorectal cancer
- Author
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Angel Santos-Briz, María González-González, María del Mar Abad, Jose Antonio Alcazar, Ines Mota, Oscar Blanco, Manuel Fuentes, Alberto Orfao, Oscar Bengoechea, Emilio Fonseca, Jacinto García, Luis Muñoz-Bellvís, Juana Ciudad, María Laura Gutiérrez, Javier De Las Rivas, José María Sayagués, and Celia Fontanillo
- Subjects
Cancer Research ,Pathology ,medicine.medical_specialty ,business.industry ,Colorectal cancer ,Cancer ,High resolution ,Single-nucleotide polymorphism ,medicine.disease ,Sporadic colorectal cancer ,Oncology ,Copy Number Alteration ,Cancer research ,Medicine ,business ,Gene ,Cause of death - Abstract
BACKGROUND Metastatic dissemination is the most frequent cause of death in patients with sporadic colorectal cancer (sCRC). It is believed that the metastatic process is related at least in part to a specific background of genetic alterations accumulated in cells from primary tumors, and the ability to detect such alterations is critical for the identification of patients with sCRC who are at risk of developing metastases. METHODS The authors used high-resolution, 500-K single nucleotide polymorphism arrays to identify copy number alteration profiles present at diagnosis in primary tumors from patients with metastatic (n = 23) versus nonmetastatic (n = 26) sCRC. RESULTS The results revealed a characteristic pattern of copy number alterations in metastatic sCRC tumors that involved losses of 23 regions at chromosomes 1p, 17p, and 18q, together with gains of 35 regions at chromosomes 7 and 13q. CONCLUSIONS In line with expectations, the copy number profile investigated involved multiple genes that were associated previously with sCRC (ie, SMAD2) and/or the metastatic process (ie, podocalyxin-like [PODXL]), and it also was associated with a poorer outcome. Cancer 2014;120:1948–1959. © 2014 American Cancer Society.
- Published
- 2014
44. Recomendaciones para la determinación de biomarcadores en el melanoma metastásico. Consenso Nacional de la Sociedad Española de Anatomía Patológica y de la Sociedad Española de Oncología Médica
- Author
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José Luis Rodríguez-Peralto, María Teresa Fernández-Figueras, Maria D. Lozano, Angel Santos-Briz, Jose A. Lopez-Martin, Enrique Espinosa, Alfonso Berrocal, Juan J. Ríos-Martín, Salvador Martín-Algarra, and Ana Arance
- Subjects
Pathology and Forensic Medicine - Abstract
Resumen Este documento de consenso nace como una iniciativa conjunta de la Sociedad Espanola de Anatomia Patologica (SEAP) y de la Sociedad Espanola de Oncologia Medica (SEOM) y propone recomendaciones diagnosticas y terapeuticas para el manejo del paciente con melanoma avanzado o metastasico basadas en la evidencia cientifica que existe en la actualidad sobre el uso de biomarcadores. Por tanto, este documento supone una oportunidad para mejorar la eficiencia de la actividad asistencial y la utilizacion de recursos, lo que redundara en un beneficio para estos pacientes. Con los datos disponibles hasta el momento, este grupo de expertos recomienda que en los pacientes con melanoma metastasico se analice de forma rutinaria el estado mutacional de BRAF, ya que su resultado condiciona el manejo terapeutico posterior de estos pacientes. El analisis de alteraciones geneticas de KIT puede ser razonable en pacientes con tumores primarios de localizacion acral, en mucosas o en piel cronicamente expuesta al sol, en situacion avanzada, pero no en pacientes con otro tipo de melanomas. Este panel no considera actualmente indicado como practica clinica habitual el estudio de otras alteraciones geneticas, como pueden ser el estado mutacional de NRAS en pacientes no portadores de mutaciones de BRAF, el analisis mutacional de GNAQ/GNA11 o las alteraciones geneticas de PTEN, ya que hoy por hoy sus resultados no influyen en la planificacion del tratamiento de estos pacientes. Otros aspectos importantes que se desarrollan en este documento son los requisitos organizativos y los controles de calidad necesarios para la determinacion adecuada de estos biomarcadores, y las implicaciones legales que se deben tener en cuenta.
- Published
- 2014
45. Familial papular epidermal nevus with 'skyline' basal cell layer
- Author
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Javier Cañueto, Angel Santos-Briz, Concepción Román-Curto, Álvaro de Dios-Velázquez, Valia Beteta-Gorriti, and Manuela Yuste
- Subjects
Male ,medicine.medical_specialty ,Skin Neoplasms ,integumentary system ,business.industry ,Infant ,Dermatology ,medicine.disease ,Epidermal nevus ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,Basal cell layer ,030220 oncology & carcinogenesis ,Pediatrics, Perinatology and Child Health ,medicine ,Humans ,Nevus ,Female ,skin and connective tissue diseases ,business ,Skin - Abstract
Papular epidermal nevus with "skyline" basal cell layer is a variant of keratinocytic nevus that usually occurs sporadically but may affect different family members. We report on the fourth family with papular epidermal nevus with "skyline" basal cell layer affecting a 3-month-old girl and her father.
- Published
- 2018
46. Chronic recurrent annular neutrophilic dermatosis associated with rheumatoid arthritis
- Author
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Angel Santos-Briz, J.C. Santos-Durán, Emilia Fernández-López, and J.M. Mir-Bonafé
- Subjects
medicine.medical_specialty ,Histology ,Neutrophilic dermatosis ,business.industry ,Rheumatoid arthritis ,medicine ,General Medicine ,Dermatology ,medicine.disease ,business ,Pathology and Forensic Medicine - Published
- 2014
47. The combination of bortezomib and dexamethasone is an efficient therapy for relapsed/refractory scleromyxedema: a rare disease with new clinical insights
- Author
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Teresa Contreras, Javier Cañueto, Ramón García-Sanz, Concepción Román, Angel Santos-Briz, Norma C. Gutiérrez, and Jorge Labrador
- Subjects
Melphalan ,medicine.medical_specialty ,business.industry ,Bortezomib ,Hematology ,General Medicine ,Malignancy ,medicine.disease ,Dermatology ,Mucinosis ,Scleromyxedema ,Immunology ,medicine ,business ,Dexamethasone ,Rare disease ,medicine.drug ,Papular mucinosis - Abstract
Scleromyxedema (SM) is a rare primary cutaneous inflammatory mucinosis characterised by papular mucinosis, monoclonal gammopathy and extracutaneous involvement. Most therapeutic options have failed in SM but high-dose therapy followed by autologous peripheral blood stem cell transplantation (APBSCT) appears to be highly effective, although SM normally relapses. We report the case of a 29-yr-old patient with severe SM who achieved stringent complete response with Bortezomib plus Dexamethasone after an early relapse subsequent to a high-dose melphalan regimen followed APBSCT. It is of particular note that dermatological lesions responded to both therapies before M-component modifications, suggesting that SM is independent of M-component characteristics. However, treatment should be directed towards the underlying plasma cell malignancy with typical anti-myeloma agents.
- Published
- 2012
48. Demodicidosis simulating acute graft-versus-host disease after allogeneic stem cell transplantation in one patient with acute lymphoblastic leukemia
- Author
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C. Meseguer-Yebra, Concepción Román-Curto, Javier Cañueto, C. Fraile-Alonso, Emilia Fernández-López, L. Vázquez, and Angel Santos-Briz
- Subjects
Adult ,Mite Infestations ,Lymphoblastic Leukemia ,Graft vs Host Disease ,chemical and pharmacologic phenomena ,Disease ,Diagnosis, Differential ,immune system diseases ,hemic and lymphatic diseases ,medicine ,Animals ,Humans ,Transplantation, Homologous ,Acari ,Skin ,Transplantation ,biology ,business.industry ,hemic and immune systems ,Precursor Cell Lymphoblastic Leukemia-Lymphoma ,medicine.disease ,biology.organism_classification ,Demodex folliculorum ,surgical procedures, operative ,Infectious Diseases ,Graft-versus-host disease ,Erythema ,Face ,Immunology ,Female ,Stem cell ,Differential diagnosis ,business ,Demodex ,Stem Cell Transplantation - Abstract
One important differential diagnosis of facial erythema in a patient receiving an allogeneic bone marrow transplant (BMT) is acute graft-versus-host disease (GVHD). Demodex folliculorum has been rarely implicated in the development of facial rashes in immunosuppressed patients, including BMT recipients. We report the case of a patient, suffering from acute lymphoblastic leukemia, who after bone marrow transplantation developed a facial rash due to D. folliculorum mimicking GVHD. Differential diagnosis of facial rashes and demodicidosis after BMT is reviewed.
- Published
- 2012
49. Spontaneous Regression of a Plaque-Type Striated Muscle Hamartoma
- Author
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Concepción Román-Curto, María del Carmen Fraile Alonso, Emilia Fernández-López, Ximena Calderón-Castrat, and Angel Santos-Briz
- Subjects
Pathology ,medicine.medical_specialty ,business.industry ,Hamartoma ,Remission, Spontaneous ,Infant, Newborn ,Dermatology ,medicine.disease ,Muscle, Striated ,Benign tumor ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,Text mining ,Muscular Diseases ,Face ,Pediatrics, Perinatology and Child Health ,Humans ,Medicine ,Female ,030212 general & internal medicine ,Plaque type ,Child ,business - Abstract
Striated muscle hamartoma (SMH) is a rare, congenital or acquired, benign tumor that predominantly affects children. Therapeutic management has classically been surgical intervention. We present a pediatric case of a facial plaque-type SMH with spontaneous regression that highlights the importance of clinical observation for a conservative approach.
- Published
- 2017
50. Buschke-Ollendorff Syndrome with Striking Phenotypic Variation Resulting from a Novel c.2203C>T Nonsense Mutation in LEMD3
- Author
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Javier Cañueto, Rogelio González-Sarmiento, Angel Santos-Briz, Pablo de Unamuno, Manuela Yuste-Chaves, and S. Ciria
- Subjects
Genetics ,Melorheostosis ,business.industry ,media_common.quotation_subject ,Nonsense ,Nonsense mutation ,Locus (genetics) ,Heterozygote advantage ,Dermatology ,medicine.disease ,humanities ,Stop codon ,Buschke–Ollendorff syndrome ,Pediatrics, Perinatology and Child Health ,Medicine ,Osteopoikilosis ,business ,media_common - Abstract
The Buschke-Ollendorff syndrome (BOS) (MIM 166700) is a rare autosomal dominant disorder with highly variable expression that consists of multiple cutaneous elastic nevi and osteopoikilosis. It may exhibit clinical variations, and in some patients either skin or bone lesions may be absent. Recently it has been demonstrated that the heterozygous loss of function in LEMD3 can result in osteopoikilosis, BOS, and melorheostosis. We have studied three generations in a family with BOS with a variable phenotype. The genetic analyses revealed a heterozygous c.2203C>T nonsense mutation at the LEMD3 locus. The mutation induces a change in the 735 arginine codon to a stop codon. This study shows the wide phenotypic variation in BOS and increases the repertory of mutations described to date in LEMD3.
- Published
- 2010
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