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Characterization of Novel Genetic Alterations in Salivary Gland Secretory Carcinoma

Authors
 Kiyong Na  ;  Juan C Hernandez-Prera  ;  Jae-Yol Lim  ;  Ha Young Woo  ;  Sun Och Yoon 
Citation
 MODERN PATHOLOGY, Vol.33(4) : 541-550, 2020-04 
Journal Title
 MODERN PATHOLOGY 
ISSN
 0893-3952 
Issue Date
2020-04
Abstract
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.
Files in This Item:
T202001216.pdf Download
DOI
10.1038/s41379-019-0427-1
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Otorhinolaryngology (이비인후과학교실) > 1. Journal Papers
Yonsei Authors
Woo, Ha Young(우하영) ORCID logo https://orcid.org/0000-0002-3078-6484
Yoon, Sun Och(윤선옥) ORCID logo https://orcid.org/0000-0002-5115-1402
Lim, Jae Yol(임재열) ORCID logo https://orcid.org/0000-0002-9757-6414
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/176044
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