Bryce L Phillips, Bhavya Yarlagadda, William M Yarbrough, Robert Bradley, Christopher J Huffman, Loren G Morgan
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Left Atrial Undifferentiated Pleomorphic Sarcoma: A Novel HMGA2::AVIL Fusion Presenting as Hemoptysis.
Background: Cardiac undifferentiated pleomorphic sarcoma (UPS) is a rare primary cardiac malignancy with diagnostic difficulties.
Case summary: A 22-year-old man presented with angina, hemoptysis, and dyspnea. Multimodal imaging showed an extensive intra- and extracardiac mass obliterating the left atrium. Following gross tumor resection with pulmonary vein and pericardial patch reconstruction, mouse double minute 2 homolog immunohistochemistry and comprehensive next-generation sequencing (NGS) sarcoma fusion panel testing identified a novel HMGA2::AVIL (inv[12] [q13.3; q14.3]) fusion.
Discussion: To our knowledge, this is the first reported HMGA2::AVIL fusion in cardiac UPS, expanding the molecular profile of cardiac sarcomas. NGS could be useful to identify unique drivers of tumorigenesis.
Take-home message: This case identifies a novel HMGA2::AVIL fusion, highlighting the utility of comprehensive NGS fusion panels in the diagnostic workup and molecular characterization of UPSs of the heart.
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