Activating mutation of PDGFRB gene in a rare cardiac undifferentiated intimal sarcoma of the left atrium: a case report
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Xiaoling Fu1, Weixin Niu2, Ji Li3, Amber J. Kiliti4, Hikmat A. Al-Ahmadie5, Gopa Iyer6,7, Sizhi Paul Gao4 and Qi Li1
1 Department of Medical Oncology, Shuguang Hospital, Shanghai University of Traditional Chinese Medicine, Shanghai, P.R. China
2 Department of Surgery, Zhongshan Hospital of Fudan University, Shanghai, P.R. China
3 Department of Pancreatic Surgery, Huashan Hospital, Fudan University and Shanghai Medical School, Shanghai, P.R. China
4 Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, New York, USA
5 Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York, USA
6 Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA
7 Weill Cornell Medical College, Cornell University, New York, New York, USA
Qi Li, email:
Sizhi Paul Gao, email:
Keywords: cardiac sarcoma, intimal sarcoma, memorial sloan kettering-integrated mutation profiling of actionable cancer targets, PDGFRA, PDGFRB
Received: November 18, 2016 Accepted: July 25, 2017 Published: September 07, 2017
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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