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A novel TP53-KPNA3 translocation defines a de novo treatment-resistant clone in osteosarcoma
DC Field | Value | Language |
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dc.contributor.author | 권우선 | - |
dc.contributor.author | 김효송 | - |
dc.contributor.author | 라선영 | - |
dc.contributor.author | 정현철 | - |
dc.contributor.author | 허수진 | - |
dc.date.accessioned | 2018-01-23T05:53:47Z | - |
dc.date.available | 2018-01-23T05:53:47Z | - |
dc.date.issued | 2016 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/155790 | - |
dc.description.abstract | Osteosarcoma 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.statementOfResponsibility | open | - |
dc.format | application/pdf | - |
dc.relation.isPartOf | COLD SPRING HARBOR MOLECULAR CASE STUDIES | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.title | A novel TP53-KPNA3 translocation defines a de novo treatment-resistant clone in osteosarcoma | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine | - |
dc.contributor.department | Yonsei Biomedical Research Center | - |
dc.contributor.googleauthor | Kenneth S. Chen | - |
dc.contributor.googleauthor | Woo Sun Kwon | - |
dc.contributor.googleauthor | Jiwoong Kim | - |
dc.contributor.googleauthor | Su Jin Heo | - |
dc.contributor.googleauthor | Hyo Song Kim | - |
dc.contributor.googleauthor | Hyo Ki Kim | - |
dc.contributor.googleauthor | Soo Hee Kim | - |
dc.contributor.googleauthor | Won Suk Lee | - |
dc.contributor.googleauthor | Hyun Cheol Chung | - |
dc.contributor.googleauthor | Sun Young Rha | - |
dc.contributor.googleauthor | Tae Hyun Hwang | - |
dc.identifier.doi | 10.1101/mcs.a000992 | - |
dc.contributor.localId | A00240 | - |
dc.contributor.localId | A01202 | - |
dc.contributor.localId | A01316 | - |
dc.contributor.localId | A03773 | - |
dc.contributor.localId | A04355 | - |
dc.relation.journalcode | J03642 | - |
dc.identifier.eissn | 2373-2873 | - |
dc.identifier.pmid | 27626065 | - |
dc.contributor.alternativeName | Kwon, Woo Sun | - |
dc.contributor.alternativeName | Kim, Hyo Song | - |
dc.contributor.alternativeName | Rha, Sun Young | - |
dc.contributor.alternativeName | Chung, Hyun Cheol | - |
dc.contributor.alternativeName | Heo, Su Jin | - |
dc.contributor.affiliatedAuthor | Kwon, Woo Sun | - |
dc.contributor.affiliatedAuthor | Kim, Hyo Song | - |
dc.contributor.affiliatedAuthor | Rha, Sun Young | - |
dc.contributor.affiliatedAuthor | Chung, Hyun Cheol | - |
dc.contributor.affiliatedAuthor | Heo, Su Jin | - |
dc.citation.volume | 2 | - |
dc.citation.number | 5 | - |
dc.citation.startPage | a000992 | - |
dc.identifier.bibliographicCitation | COLD SPRING HARBOR MOLECULAR CASE STUDIES, Vol.2(5) : a000992, 2016 | - |
dc.identifier.rimsid | 48822 | - |
dc.type.rims | ART | - |
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