Activating mutation of PDGFRB gene in a rare cardiac undifferentiated intimal sarcoma of the left atrium: A case report Journal Article

   


Authors: Fu, X.; Niu, W.; Li, J.; Kiliti, A. J.; Al-Ahmadie, H. A.; Iyer, G.; Gao, S. P.; Li, Q.
Article Title: Activating mutation of PDGFRB gene in a rare cardiac undifferentiated intimal sarcoma of the left atrium: A case report
Abstract: Cardiac sarcoma is a rare malignant tumor with undefined genetic mutations and no targeted therapy. Here in one rare case of undifferentiated cardiac intimal sarcoma (IS), a next-generation sequencing based assay, MSK-IMPACT (Memorial Sloan Kettering - Integrated Mutation Profiling of Actionable Cancer Targets), identified a somatic, activating mutation in PDGFRB, along with amplification of PDGFRA. This E472D mutation of PDGFRB was discovered for the first time in IS. These findings suggest that concurrent aberrant PDGFRA and PDGFRB signaling may be a diagnostic biomarker and molecular therapeutic target of IS of the heart. Copyright: Fu et al.
Keywords: pdgfra; pdgfrb; intimal sarcoma; cardiac sarcoma; memorial sloan kettering-integrated mutation profiling of actionable cancer targets
Journal Title: Oncotarget
Volume: 8
Issue: 46
ISSN: 1949-2553
Publisher: Impact Journals  
Date Published: 2017-10-06
Start Page: 81709
End Page: 81716
Language: English
DOI: 10.18632/oncotarget.20700
PROVIDER: scopus
PMCID: PMC5655321
PUBMED: 29113426
DOI/URL:

https://www.scopus.com/inward/record.uri?eid=2-s2.0-85030638352&doi=10.18632%2foncotarget.20700&partnerID=40&md5=3e9f8c22b69d9739fb661dd78e45447a
Notes: Article -- Export Date: 2 November 2017 -- Source: Scopus
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MSK Authors
  1. Gopakumar Vasudeva Iyer
    342 Iyer
  2. Sizhi Gao
    47 Gao
  3. Hikmat Al-Ahmadie
    660 Al-Ahmadie
  4. Amber Jean Ahmad
    4 Ahmad
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