108 170

Cited 0 times in

A novel TP53-KPNA3 translocation defines a de novo treatment-resistant clone in osteosarcoma

DC FieldValueLanguage
dc.contributor.author권우선-
dc.contributor.author김효송-
dc.contributor.author라선영-
dc.contributor.author정현철-
dc.contributor.author허수진-
dc.date.accessioned2018-01-23T05:53:47Z-
dc.date.available2018-01-23T05:53:47Z-
dc.date.issued2016-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/155790-
dc.description.abstractOsteosarcoma is the most common primary bone cancer. It can be cured by aggressive surgery and chemotherapy, but outcomes for metastatic or chemoresistant disease remain dismal. Cancer sequencing studies have shown that the p53 pathway is dysregulated in nearly every case, often by translocation; however, no studies of osteosarcoma evolution or intratumor heterogeneity have been done to date. We studied a patient with chemoresistant, metastatic disease over the course of 3 years. We performed exome sequencing on germline DNA and DNA collected from tumor at three separate time points. We compared variant calls and variant allele frequencies between different samples. We identified subclonal mutations in several different genes in the primary tumor sample and found that one particular subclone dominated subsequent tumor samples at relapse. This clone was marked by a novel TP53-KPNA3 translocation and loss of the opposite-strand wild-type TP53 allele. Future research must focus on the functional significance of such clones and strategies to eliminate them.-
dc.description.statementOfResponsibilityopen-
dc.formatapplication/pdf-
dc.relation.isPartOfCOLD SPRING HARBOR MOLECULAR CASE STUDIES-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rightshttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.titleA novel TP53-KPNA3 translocation defines a de novo treatment-resistant clone in osteosarcoma-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine-
dc.contributor.departmentYonsei Biomedical Research Center-
dc.contributor.googleauthorKenneth S. Chen-
dc.contributor.googleauthorWoo Sun Kwon-
dc.contributor.googleauthorJiwoong Kim-
dc.contributor.googleauthorSu Jin Heo-
dc.contributor.googleauthorHyo Song Kim-
dc.contributor.googleauthorHyo Ki Kim-
dc.contributor.googleauthorSoo Hee Kim-
dc.contributor.googleauthorWon Suk Lee-
dc.contributor.googleauthorHyun Cheol Chung-
dc.contributor.googleauthorSun Young Rha-
dc.contributor.googleauthorTae Hyun Hwang-
dc.identifier.doi10.1101/mcs.a000992-
dc.contributor.localIdA00240-
dc.contributor.localIdA01202-
dc.contributor.localIdA01316-
dc.contributor.localIdA03773-
dc.contributor.localIdA04355-
dc.relation.journalcodeJ03642-
dc.identifier.eissn2373-2873-
dc.identifier.pmid27626065-
dc.contributor.alternativeNameKwon, Woo Sun-
dc.contributor.alternativeNameKim, Hyo Song-
dc.contributor.alternativeNameRha, Sun Young-
dc.contributor.alternativeNameChung, Hyun Cheol-
dc.contributor.alternativeNameHeo, Su Jin-
dc.contributor.affiliatedAuthorKwon, Woo Sun-
dc.contributor.affiliatedAuthorKim, Hyo Song-
dc.contributor.affiliatedAuthorRha, Sun Young-
dc.contributor.affiliatedAuthorChung, Hyun Cheol-
dc.contributor.affiliatedAuthorHeo, Su Jin-
dc.citation.volume2-
dc.citation.number5-
dc.citation.startPagea000992-
dc.identifier.bibliographicCitationCOLD SPRING HARBOR MOLECULAR CASE STUDIES, Vol.2(5) : a000992, 2016-
Appears in Collections:
1. College of Medicine (의과대학) > Yonsei Biomedical Research Center (연세의생명연구원) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers

qrcode

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.