Identification of Lynch syndrome carriers among patients with small bowel adenocarcinoma
| العنوان: | Identification of Lynch syndrome carriers among patients with small bowel adenocarcinoma |
|---|---|
| المؤلفون: | Ariadna Sánchez, Luis Bujanda, Miriam Cuatrecasas, Alex Bofill, Cristina Alvarez-Urturi, Goretti Hernandez, Lara Aguilera, Sabela Carballal, Joan Llach, Cristina Herrera-Pariente, Mar Iglesias, Liseth Rivero-Sánchez, Gerhard Jung, Lorena Moreno, Teresa Ocaña, Carolina Bayarri, Maria Pellise, Antoni Castells, Sergi Castellví-Bel, Francesc Balaguer, Leticia Moreira |
| المساهمون: | Institut Català de la Salut, [Sánchez A, Bofill A] Department of Gastroenterology, Hospital Clínic Barcelona, Centro de Investigación Biomédica en Red en Enfermedades Hepáticas y Digestivas (CIBEREHD), IDIBAPS (Institut d’Investigacions Biomèdiques August Pi i Sunyer), University of Barcelona, Barcelona, Spain. [Bujanda L] Department of Gastroenterology, Biodonostia Health Research Institute, Centro de Investigación Biomédica en Red en Enfermedades Hepáticas y Digestivas (CIBEREHD), Universidad del País Vasco (UPV/EHU), San Sebastián, Spain. [Cuatrecasas M] Department of Pathology, Hospital Clínic Barcelona, Centro de Investigación Biomédica en Red en Enfermedades Hepáticas y Digestivas (CIBEREHD), IDIBAPS (Institut d’Investigacions Biomèdiques August Pi i Sunyer), University of Barcelona, Barcelona, Spain. [Alvarez-Urturi C] Department of Gastroenterology, IMIM (Hospital del Mar Medical Research Institute), Barcelona Hospital del Mar, Barcelona, Spain. [Hernandez G] Department of Gastroenterology, Hospital Universitario de Canarias, Tenerife, Spain. [Aguilera L] Servei de Gastroenterologia, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus |
| المصدر: | Cancers, Vol 13, Iss 6378, p 6378 (2021) Cancers; Volume 13; Issue 24; Pages: 6378 Cancers Scientia |
| بيانات النشر: | MDPI, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, Small bowel adenocarcinoma, Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Rare Diseases [DISEASES], Neoplasms::Neoplasms by Histologic Type::Neoplasms, Glandular and Epithelial::Carcinoma::Adenocarcinoma [DISEASES], neoplasias::neoplasias por tipo histológico::neoplasias glandulares y epiteliales::carcinoma::adenocarcinoma [ENFERMEDADES], Lynch syndrome, small bowel adenocarcinoma, hereditary cancer, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Malalties rares - Diagnòstic, Adenocarcinoma, enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::síndromes neoplásicos hereditarios::neoplasias colorrectales hereditarias sin poliposis [ENFERMEDADES], Article, digestive system diseases, Hereditary cancer, afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::enfermedades raras [ENFERMEDADES], Oncology, Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Neoplastic Syndromes, Hereditary::Colorectal Neoplasms, Hereditary Nonpolyposis [DISEASES], Malalties congènites, RC254-282 |
| الوصف: | Simple Summary Small bowel adenocarcinoma (SBA) is associated with Lynch syndrome (LS). This is the first study to evaluate the identification of LS patients based on mismatch repair deficiency (MMRd) tumor among SBA. The authors found a 21.3% prevalence of MMRd tumors and a 10.1% prevalence of LS. A germline mutation was identified in 60% of patients with a MMRd tumor. This data suggests that universal tumor MMR testing among SBA patients should be implemented for the identification of LS. Abstract Background: Small bowel adenocarcinoma (SBA) is a rare disease which can be associated with Lynch syndrome (LS). LS tumors are characterized by the presence of microsatellite instability (MSI) and/or the loss of mismatch repair (MMR) protein expression. In SBA, the frequency of MMR deficient (MMRd) tumors varies from 5% to 35%. This study aims to describe the prevalence of LS carriers among patients with MMRd small bowel adenocarcinomas. Methods: A multicenter retrospective study with identification and MMR testing of all consecutive SBA between 2004 and 2020 in a multicenter Spanish study. Demographical data, tumor characteristics, follow-up and survival information were collected. Germline testing was driven by identification of MMRd tumors. Results: A total of 94 individuals diagnosed with SBA were recruited. We observed 20 (21.3%) MMRd tumors. In 9/15 (60%) patients with MMRd tumors, a pathogenic variant was identified (three MLH1, four MSH2, one MSH6 and one PMS2). Accordingly, the prevalence of LS among all SBA cases was 10.1%. Conclusions: More than one-fifth of SBA display MMRd and in more than a half is due to LS. Our data supports the implementation of universal MMR tumor testing among SBA for the identification of LS families. |
| وصف الملف: | application/pdf |
| اللغة: | English |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::597653ea8fca9957c2c2bf6623870180 http://hdl.handle.net/10230/53916 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....597653ea8fca9957c2c2bf6623870180 |
| قاعدة البيانات: | OpenAIRE |
| الوصف غير متاح. |