PDF(Pubmed)
Abstract：
Cardiac paragangliomas are extremely rare tumors derived from chromaffin cells of the neural crest. Succinate dehydrogenase B (SDHB) mutations are associated with metastatic potential and potentially worse prognosis. Here we describe the case of a 64-year-old man who presented with chest pain, fatigue, and weight loss. Cardiac workup revealed a nearly 7-cm cardiac mass in the right lateral wall. Incisional biopsy demonstrated paraganglioma. Plasma free normetanephrine and chromogranin A were elevated. A DOTATATE positron emission tomography/computed tomography (PET/CT) revealed avidity of the mass with no evidence of distant metastases. Next-generation sequencing of the specimen demonstrated a variant of unknown significance of SDHB at H244D. Germline testing was negative. Surgical resection was aborted due to involvement of critical structures of the heart. Systemic treatment with the multi-tyrosine kinase inhibitor cabozantinib was initiated with subsequent improvements in biochemical markers as well as reductions in maximum standardized uptake value (SUVmax) on Ga-68 DOTATATE PET/CT. After 5 months of cabozantinib, he was unable to tolerate the side effects and external beam radiation therapy was completed. In this case, we report a novel somatic SDHB mutation at H244D in a sympathetic paraganglioma presenting as a cardiac mass.
摘要：
心脏副神经节瘤是极其罕见的源自神经c的嗜铬细胞的肿瘤。琥珀酸脱氢酶B（SDHB）突变与转移潜力和可能较差的预后有关。在这里，我们描述了一个64岁的男性，他出现了胸痛，疲劳,和减肥。心脏检查显示右侧壁有将近7厘米的心脏质量。切开活检显示副神经节瘤。血浆游离去甲肾上腺素和嗜铬粒蛋白A升高。DOTATATE正电子发射断层扫描/计算机断层扫描（PET/CT）显示肿块的亲和力，没有远处转移的证据。样本的下一代测序显示了在H244D处SDHB的未知意义的变体。胚系试验为阴性。由于涉及心脏的关键结构，手术切除被中止。开始使用多酪氨酸激酶抑制剂卡博替尼的全身治疗,随后在Ga-68DOTATATEPET/CT上改善生化标志物以及降低最大标准化摄取值(SUVmax)。卡博替尼5个月后，他无法忍受副作用，并完成了外部束放射治疗。在这种情况下,我们报告了一个新的体细胞SDHB突变在H244D在交感神经副神经节瘤表现为心脏质量。
