Characteristics of germline mutations in Korean patients with pheochromocytoma/paraganglioma

嗜铬细胞瘤 副神经节瘤 桑格测序 种系突变 SDHD公司 错义突变 生殖系 内科学 医学 遗传学 SDHB系统 突变 多重连接依赖探针扩增 内分泌学 生物 病理 基因 外显子
作者
Jung Hee Kim,Man Jin Kim,Sung Hye Kong,Su Jin Kim,Hyein Kang,Chan Soo Shin,Sung Sup Park,Kyu Eun Lee,Moon‐Woo Seong
出处
期刊:Journal of Medical Genetics [BMJ]
卷期号:59 (1): 56-64 被引量:9
标识
DOI:10.1136/jmedgenet-2020-107102
摘要

Background Pheochromocytomas and paragangliomas (PPGLs) are catecholamine-producing neuroendocrine tumours. PPGLs are a rare but important cause of secondary hypertension owing to their high morbidity and mortality. Patients with PPGL exhibit an increased prevalence of mutations in one of the PPGL susceptibility genes according to previous studies. We aimed to investigate the characteristics of germline mutations in the largest number of Korean patients with PPGL. Methods In this study, 161 patients with PPGL were evaluated. Phenotype data, including biochemical, pathological and anatomical imaging results, were collected. Germline mutations in 10 PPGL-related genes were tested by targeted next-generation sequencing (NGS), Sanger sequencing and multiplex ligation-dependent probe amplification. Results Approximately 21% of apparently sporadic PPGLs harboured germline mutations of the PPGL-related genes. The mutation carriers were younger at the first diagnosis and had more bilateral (28.6% vs 4.0%, p<0.001) and multifocal (11.4% vs 1.6%, p=0.027) PPGLs, but showed no metastatic risk (17.1% vs 11.1%, p=0.504), than non-mutation carriers. Missense mutation of SDHD p.V111I was found in this cohort of Asian patients, which was associated with unilateral pheochromocytoma with dominantly epinephrine production. Conclusion This study covered the largest number of Korean patients with PPGL. To our knowledge, it is the first to compare results of targeted NGS panel with those of conventional sequencing methods in Asia. We demonstrated that the variant type, as well as the mutated gene, may determine the phenotype and prognosis of PPGLs.

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