Kuhn Aliny W, Lerario Antonio M, Morais Alice N R, Iglesio Ricardo F, Ramires Félix J A, Maluf Ligia C A, Hoff Ana O, Latronico Ana C, Mendonça Berenice B, Almeida Madson Q, Fragoso Maria C B V
Adrenal Unit, Hormones and Molecular Genetics Laboratory (LIM/42), Division of Endocrinology and Metabolism, Hospital das Clínicas, Faculty of Medicine, University of São Paulo, São Paulo, Brazil.
Department of Internal Medicine, Division of Metabolism, Endocrinology, and Diabetes, University of Michigan, Ann Arbor, MI, United States.
Front Oncol. 2025 Jun 26;15:1605692. doi: 10.3389/fonc.2025.1605692. eCollection 2025.
Cardiac myxomas, though rare, are the most common benign cardiac tumors and may be associated with Carney Complex (CNC). Patients with CNC are at increased risk of developing recurrent myxomas, which can lead to severe complications. We report a case of a 46-year-old woman with CNC and recurrent cardiac myxomas who developed multiple embolic strokes and cerebral aneurysms. Following two hemorrhagic strokes, neuroimaging and biopsy revealed a well-differentiated myxoid neoplasm in the brain parenchyma. Genetic analysis revealed a germline pathogenic variant, along with loss of heterozygosity (LOH) at chromosome 17q24.2 in the cardiac myxoma, but not in the brain lesion. This case challenges the conventional understanding of cardiac myxomas as strictly benign, suggesting they may exceptionally exhibit distant proliferative behavior, likely through mechanical dissemination and subsequent growth in the brain. Although embolic events are common in cardiac myxomas, the capacity of tumor cells to implant and proliferate in extracardiac sites remains poorly understood. Our findings underscore the importance of maintaining a high index of suspicion for neurological complications in patients with cardiac myxomas, particularly in the setting of CNC. Further investigation is essential to elucidate the mechanisms driving this behavior and to optimize management strategies in similar cases.
心脏黏液瘤虽然罕见，但却是最常见的心脏良性肿瘤，可能与卡尼综合征（CNC）相关。患有CNC的患者发生复发性黏液瘤的风险增加，这可能导致严重并发症。我们报告了一例46岁患有CNC和复发性心脏黏液瘤的女性病例，该患者发生了多次栓塞性中风和脑动脉瘤。在两次出血性中风后，神经影像学检查和活检显示脑实质内有一个分化良好的黏液样肿瘤。基因分析显示存在种系致病性变异，以及心脏黏液瘤中17q24.2染色体的杂合性缺失（LOH），但脑病变中未出现。该病例挑战了心脏黏液瘤严格为良性的传统认识，表明它们可能异常地表现出远处增殖行为，可能是通过机械播散并随后在脑内生长。虽然栓塞事件在心脏黏液瘤中很常见，但肿瘤细胞在心脏外部位植入和增殖的能力仍知之甚少。我们的研究结果强调了对心脏黏液瘤患者，尤其是在CNC背景下，对神经并发症保持高度怀疑指数的重要性。进一步的研究对于阐明驱动这种行为的机制以及优化类似病例的管理策略至关重要。
