Characterization of novel genetic alterations in salivary gland secretory carcinoma
| العنوان: | Characterization of novel genetic alterations in salivary gland secretory carcinoma |
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| المؤلفون: | Kiyong Na, Jae Yol Lim, Sun Och Yoon, Juan C. Hernandez-Prera, Ha Young Woo |
| المصدر: | Modern Pathology |
| بيانات النشر: | Nature Publishing Group US, 2019. |
| سنة النشر: | 2019 |
| مصطلحات موضوعية: | 0301 basic medicine, Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Biology, Protein Serine-Threonine Kinases, medicine.disease_cause, Article, Translocation, Genetic, Pathology and Forensic Medicine, DNA Glycosylases, Fusion gene, 03 medical and health sciences, Young Adult, 0302 clinical medicine, AMP-Activated Protein Kinase Kinases, MUTYH, medicine, Cancer genomics, Biomarkers, Tumor, Humans, Genetic Predisposition to Disease, Trypsin, Head and neck cancer, Child, Cancer genetics, Aged, Hereditary pancreatitis, Mutation, medicine.diagnostic_test, Proto-Oncogene Proteins c-ets, Carcinoma, Histone-Lysine N-Methyltransferase, Middle Aged, medicine.disease, Salivary Gland Neoplasms, Repressor Proteins, ETV6, 030104 developmental biology, 030220 oncology & carcinogenesis, Adenocarcinoma, Female, Carcinogenesis, MutL Protein Homolog 1, Fluorescence in situ hybridization |
| الوصف: | Secretory carcinoma is a salivary gland tumor with a characteristic chromosomal translocation that results in an ETV6-NTRK3 fusion gene. Secretory carcinoma shows relatively frequent rates of lymph-node metastasis and tumor recurrence and has a characteristic histology. Except for the ETV6 translocation, genomic alterations in secretory carcinoma have not been reported. In the present study, we characterized the novel recurrent genetic mutations of secretory carcinoma. On the basis of histology, immunohistochemistry, and ETV6 gene break-apart fluorescence in situ hybridization assays, 22 tumors were classified as secretory carcinomas (19 ETV6 translocation-positive and 3 ETV6 translocation-negative secretory carcinomas) and their clinicopathologic characteristics were reviewed. Targeted deep sequencing analyses were performed on 20 secretory carcinomas (17 ETV6 translocation-positive and 3 ETV6 translocation-negative secretory carcinomas) to investigate their genetic alterations. The A16V (C→T) mutation in PRSS1, which encodes a cationic trypsinogen and has a mutation associated with hereditary pancreatitis and pancreatic adenocarcinoma, was observed in 40% (8/20) (7/17 of ETV6 translocation-positive and 1/3 of ETV6 translocation-negative secretory carcinomas). Pathogenic variants of MLH1, MUTYH, and STK11 were also identified. Variants of uncertain significance included mutations in KMT5A. These novel characteristic genetic alterations may advance current understandings of secretory carcinoma tumorigenesis and progression, leading to improved diagnoses and treatment strategies. |
| اللغة: | English |
| تدمد: | 1530-0285 0893-3952 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fb4af46e8209c001c15eee938ccf856Test http://europepmc.org/articles/PMC7113190Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....8fb4af46e8209c001c15eee938ccf856 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15300285 08933952 |
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