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Characterization of Novel Genetic Alterations in Salivary Gland Secretory Carcinoma

DC FieldValueLanguage
dc.contributor.author우하영-
dc.contributor.author윤선옥-
dc.contributor.author임재열-
dc.date.accessioned2020-06-17T00:35:56Z-
dc.date.available2020-06-17T00:35:56Z-
dc.date.issued2020-04-
dc.identifier.issn0893-3952-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/176044-
dc.description.abstractSecretory 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.-
dc.description.statementOfResponsibilityopen-
dc.languageEnglish-
dc.publisherNature Pub. Group-
dc.relation.isPartOfMODERN PATHOLOGY-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.titleCharacterization of Novel Genetic Alterations in Salivary Gland Secretory Carcinoma-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Pathology (병리학교실)-
dc.contributor.googleauthorKiyong Na-
dc.contributor.googleauthorJuan C Hernandez-Prera-
dc.contributor.googleauthorJae-Yol Lim-
dc.contributor.googleauthorHa Young Woo-
dc.contributor.googleauthorSun Och Yoon-
dc.identifier.doi10.1038/s41379-019-0427-1-
dc.contributor.localIdA04854-
dc.contributor.localIdA02566-
dc.contributor.localIdA02566-
dc.contributor.localIdA03396-
dc.contributor.localIdA03396-
dc.relation.journalcodeJ02238-
dc.identifier.eissn1530-0285-
dc.identifier.pmid31822803-
dc.contributor.alternativeNameWoo, Ha Young-
dc.contributor.affiliatedAuthor우하영-
dc.contributor.affiliatedAuthor윤선옥-
dc.contributor.affiliatedAuthor윤선옥-
dc.contributor.affiliatedAuthor임재열-
dc.contributor.affiliatedAuthor임재열-
dc.citation.volume33-
dc.citation.number4-
dc.citation.startPage541-
dc.citation.endPage550-
dc.identifier.bibliographicCitationMODERN PATHOLOGY, Vol.33(4) : 541-550, 2020-04-
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

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