أعرض في EDS

Mismatch repair deficiency and MUTYH variants in small intestine-neuroendocrine tumors

التفاصيل البيبلوغرافية
العنوان: Mismatch repair deficiency and MUTYH variants in small intestine-neuroendocrine tumors
المؤلفون: Helderman, N.C., Elsayed, F.A., Wezel, T. van, Terlouw, D., Langers, A.M.J., Egmond, D. van, Kilinc, G., Hristova, H., Sarasqueta, A.F., Morreau, H., Nielsen, M., Suerink, M.
المساهمون: Pathology
المصدر: Human pathology, 125, 11-17. W.B. Saunders Ltd
Human Pathology, 125, 11-17. W B SAUNDERS CO-ELSEVIER INC
سنة النشر: 2022
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, MUTYH, Brain Neoplasms, Colorectal Neoplasms, Hereditary Nonpolyposis, DNA Mismatch Repair, Pathology and Forensic Medicine, DNA Glycosylases, Neuroendocrine Tumors, Lynch syndrome, Neoplastic Syndromes, Hereditary, Intestine, Small, Humans, Small intestine-neuroendocrine tumors, Colorectal Neoplasms, MutL Protein Homolog 1, Cancer genetics, Mismatch repair deficiency, Germ-Line Mutation, Mismatch Repair Endonuclease PMS2
الوصف: & nbsp;Small intestine-neuroendocrine tumors (SI-NETs) are one of the most common tumors of the small bowel. Despite an increasing incidence, the exact mechanisms driving underlying pathology remain to be determined. Interestingly, recent studies linked the development of (SI-)NETs to both Lynch syndrome (LS) and MUTYH variants. If confirmed, these associations would have important consequences for treatment. In this study we therefore investigated the prevalence of mismatch repair (MMR) deficiency and MUTYH variants in 64 primary resected SI-NETs. Immunohistochemistry was used to assess the expression of the MMR genes, and competitive allele-specific PCR (KASPar) targeting two hotspot MUTYH variants [p.(Tyr179Cys), p.(Gly396Asp)] was performed to determine their prevalence in SI-NETs. Strikingly, all 64 SI-NETs stained positive for MSH6 and PMS2, indicating & nbsp;MMR proficiency. In addition, no MUTYH hotspot variant was found in any of the 64 SI-NETs. As such, these results do not support an association between SI-NET development and LS or MUTYH variants. In order to gain insight into SI-NET pathogenesis and optimally manage patients, future research should therefore focus on other candidate genes. (C) 2022 Published by Elsevier Inc
وصف الملف: application/pdf
تدمد: 1532-8392
0046-8177
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f5dd9d8239ebfd0d202008060801633
https://pubmed.ncbi.nlm.nih.gov/35417733
حقوق: OPEN
رقم الأكسشن: edsair.doi.dedup.....9f5dd9d8239ebfd0d202008060801633
قاعدة البيانات: OpenAIRE
الوصف
تدمد:15328392
00468177