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

// Xiaoling Fu 1 , Weixin Niu 2 , Ji Li 3 , Amber J. Kiliti 4 , Hikmat A. Al-Ahmadie 5 , Gopa Iyer 6,7 , Sizhi Paul Gao 4 and Qi Li 1 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 Correspondence to: 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 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.