Division of Endocrinology & Metabolism, Department of Internal Medicine, Incheon St. Mary's hospital, The Catholic University of Korea, Seoul, Korea.
Department of Laboratory Medicine, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Ann Lab Med. 2024 Nov 1;44(6):591-597. doi: 10.3343/alm.2023.0376. Epub 2024 Jul 29.
Genetic testing is recommended for all patients with pheochromocytomas and paragangliomas (PPGL) to establish genotype-phenotype associations. We investigated germline mutations in 59 patients with PPGL at six Korean university hospitals using next-generation sequencing (NGS) targeting 38 PPGL-associated genes, including those recommended by the Korean PPGL Task Force. Germline mutations were identified in 13 patients (22%), and affected four genes: , , , and . Germline mutations were significantly associated with a family history of PPGL, smaller tumor size, and the presence of other types of tumors. Using 95 Korean PPGL cases with germline mutations identified through a literature review and 13 cases from our cohort, we characterized genotype-phenotype correlations. Mutation hotspots were identified in specific codons of (codons 631 and 634), (157 and 167), and (131 and 253). mutations varied, indicating the absence of common hotspots. These findings highlight the efficacy of the recommended NGS panel for Korean patients with PPGL and the importance of genetic testing in establishing clinical management and personalized therapeutic strategies.
遗传检测推荐用于所有嗜铬细胞瘤和副神经节瘤（PPGL）患者，以建立基因型-表型关联。我们使用靶向 38 个与 PPGL 相关的基因的下一代测序（NGS），包括韩国 PPGL 工作组推荐的基因，对六家韩国大学医院的 59 名 PPGL 患者进行了种系突变检测。在 13 名患者（22%）中发现了种系突变，涉及四个基因：、、、和。种系突变与 PPGL 的家族史、肿瘤较小和存在其他类型的肿瘤显著相关。通过文献复习和我们队列中的 13 例，我们使用 95 例韩国有突变的 PPGL 病例和 13 例病例，对基因型-表型相关性进行了描述。在 （密码子 631 和 634）、（157 和 167）和 （131 和 253）的特定密码子中鉴定出突变热点。 突变不同，表明不存在常见热点。这些发现强调了推荐的 NGS 面板对韩国 PPGL 患者的有效性，以及遗传检测在建立临床管理和个性化治疗策略方面的重要性。
