Left Atrial Undifferentiated Pleomorphic Sarcoma: A Novel HMGA2::AVIL Fusion Presenting as Hemoptysis.

Q4 Medicine

JACC. Case reports Pub Date : 2026-10-20 DOI:10.1016/j.jaccas.2026.110834

Bryce L Phillips, Bhavya Yarlagadda, William M Yarbrough, Robert Bradley, Christopher J Huffman, Loren G Morgan

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Abstract

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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左心房未分化多形性肉瘤：一种以咯血表现的新型HMGA2:: vil融合。

背景：心脏未分化多形性肉瘤（UPS）是一种罕见的原发性心脏恶性肿瘤，诊断困难。病例总结：一名22岁男性，表现为心绞痛、咯血和呼吸困难。多模态影像显示一个广泛的心内和心外肿块覆盖了左心房。经肺静脉切除和心包补片重建后，小鼠双分钟2同源免疫组化和综合下一代测序（NGS）肉瘤融合面板检测发现了一种新的HMGA2::AVIL （inv[12] [q13.3; q14.3]）融合。讨论：据我们所知，这是心脏UPS中首次报道的HMGA2::AVIL融合，扩大了心脏肉瘤的分子谱。NGS可用于识别肿瘤发生的独特驱动因素。关键信息：本病例确定了一种新型HMGA2::AVIL融合，突出了综合NGS融合面板在心脏ups诊断检查和分子表征中的实用性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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