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Войти в исследования JACC. Case reports · 2026
Left Atrial Undifferentiated Pleomorphic Sarcoma: A Novel HMGA2::AVIL Fusion Presenting as Hemoptysis.
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Phillips Bryce L, Yarlagadda Bhavya, Yarbrough William M, Bradley Robert, Huffman Christopher J, Morgan Loren G
Аннотация
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.
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.