在临床实践中，基因检测已成为许多癌症疾病的标准检测。虽然单一遗传综合症的诊断并不少见，但两种遗传病的共存，即使有部分常见的症状，仍然不常见。因此，靶向下一代测序（NGS）以及遗传咨询和影像学研究对于每一位确诊的副神经节瘤患者至关重要。在本报告中，我们介绍了两名被诊断患有 2 型多发性内分泌肿瘤 (MEN2A) 和 1 型家族性副神经节瘤综合征 (FPGL1) 的姐妹。在因颈部肿瘤持续数月到诊所就诊后，两名患者在影像学检查和检查后均接受了肿瘤切除手术。实验室研究。病理报告证实了副神经节瘤的诊断。随后，包括 NGS 在内的基因检测揭示了转染期间重排 (RET) 基因的突变：杂合变化 (c.2410G > A)、(p.Val804Met) 和琥珀酸脱氢酶复合体 D 亚基变体 (SDHD) ) 基因：(c.64 C > T)，(p.Arg22Ter)。随后，这两个病例都安排了甲状腺切除手术。 据我们所知，这是第一份在两个相关患者中提出这两种突变的报告，导致具有相似表现的独特遗传综合征。这强调指出，虽然不常见，但多种遗传性疾病可能同时发生在同一个人身上。© 2024。作者。

In clinical practice, genetic testing has become standard for many cancerous diseases. While a diagnosis of a single hereditary syndrome is not uncommon, the coexistence of two genetic diseases, even with partially common symptoms, remains unusual. Therefore, targeted next-generation sequencing (NGS), along with genetic consultation and imaging studies, is essential for every patient with confirmed paraganglioma. In this report, we present two sisters diagnosed with multiple endocrine neoplasia type 2 (MEN2A) and familial paraganglioma syndrome type 1 (FPGL1).After presenting to the clinic with neck tumors persisting for several months, both patients underwent tumor removal procedures following imaging and laboratory studies. Pathological reports confirmed the diagnosis of paragangliomas. Subsequently, genetic testing, including NGS, revealed a mutation in the rearranged during transfection (RET) gene: the heterozygous change (c.2410G > A), (p.Val804Met), and a variant of the succinate dehydrogenase complex subunit D (SDHD) gene: (c.64 C > T), (p.Arg22Ter). Subsequently, thyroidectomy procedures were scheduled in both cases.To the best of our knowledge, this is the first report presenting these two mutations in two related patients, resulting in distinctive genetic syndromes with similar manifestations. This underscores that although infrequent, multiple hereditary disorders may co-occur in the same individual.© 2024. The Author(s).