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

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 Can...

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Autores principales: Fu, Xiaoling, Niu, Weixin, Li, Ji, Kiliti, Amber J., Al-Ahmadie, Hikmat A., Iyer, Gopa, Gao, Sizhi Paul, Li, Qi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals LLC 2017
Materias:
Case-Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655321/
https://www.ncbi.nlm.nih.gov/pubmed/29113426
http://dx.doi.org/10.18632/oncotarget.20700
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author Fu, Xiaoling
Niu, Weixin
Li, Ji
Kiliti, Amber J.
Al-Ahmadie, Hikmat A.
Iyer, Gopa
Gao, Sizhi Paul
Li, Qi
author_facet Fu, Xiaoling
Niu, Weixin
Li, Ji
Kiliti, Amber J.
Al-Ahmadie, Hikmat A.
Iyer, Gopa
Gao, Sizhi Paul
Li, Qi
author_sort Fu, Xiaoling
collection PubMed
description 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.
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spelling pubmed-56553212017-11-06 Activating mutation of PDGFRB gene in a rare cardiac undifferentiated intimal sarcoma of the left atrium: a case report Fu, Xiaoling Niu, Weixin Li, Ji Kiliti, Amber J. Al-Ahmadie, Hikmat A. Iyer, Gopa Gao, Sizhi Paul Li, Qi Oncotarget Case-Report 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. Impact Journals LLC 2017-09-07 /pmc/articles/PMC5655321/ /pubmed/29113426 http://dx.doi.org/10.18632/oncotarget.20700 Text en Copyright: © 2017 Fu et al. http://creativecommons.org/licenses/by/3.0/ This article is distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0/) (CC-BY), which permits unrestricted use and redistribution provided that the original author and source are credited.
spellingShingle Case-Report
Fu, Xiaoling
Niu, Weixin
Li, Ji
Kiliti, Amber J.
Al-Ahmadie, Hikmat A.
Iyer, Gopa
Gao, Sizhi Paul
Li, Qi
Activating mutation of PDGFRB gene in a rare cardiac undifferentiated intimal sarcoma of the left atrium: a case report
title Activating mutation of PDGFRB gene in a rare cardiac undifferentiated intimal sarcoma of the left atrium: a case report
title_full Activating mutation of PDGFRB gene in a rare cardiac undifferentiated intimal sarcoma of the left atrium: a case report
title_fullStr Activating mutation of PDGFRB gene in a rare cardiac undifferentiated intimal sarcoma of the left atrium: a case report
title_full_unstemmed Activating mutation of PDGFRB gene in a rare cardiac undifferentiated intimal sarcoma of the left atrium: a case report
title_short Activating mutation of PDGFRB gene in a rare cardiac undifferentiated intimal sarcoma of the left atrium: a case report
title_sort activating mutation of pdgfrb gene in a rare cardiac undifferentiated intimal sarcoma of the left atrium: a case report
topic Case-Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655321/
https://www.ncbi.nlm.nih.gov/pubmed/29113426
http://dx.doi.org/10.18632/oncotarget.20700
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