嗜铬细胞瘤和副神经节瘤遗传学和基因诊断的研究进展

Advancements in genetics and genetic diagnosis of pheochromocytoma and paraganglioma

近年来,嗜铬细胞瘤和副神经节瘤(PPGL)遗传学方面的进展主要是它的高遗传性的发现、愈来愈多易感基因的鉴定及其不同基因型与临床表型之间关系的不断明晰等。因此,目前推荐对所有PPGL患者进行基因检测;不同个体患者的临床表现,有助于指导基因检测方案的优化和检测成本的控制;通过基因检测了解疾病的基因基础不仅可以加深对该病的理解,而且有助于对患者及其家属进行个体化诊断、治疗和随访。本文主要对新近PPGL遗传学研究和基因检测方面的研究进展作一综述。

In recent years,the research progress in genetics of pheochromocytoma and paraganglioma(PPGL)mainly reflected in the discovery of its high heritability,identification of more and more susceptibility genes and persistent establishment of relation between the distinct genotypes and phenotypes.Therefore,genetic testing is currently recommended for all the patients with PPGL.Clinical manifestations of individual patients will help for optimization of the testing protocol and controlling of testing costs.Knowledge of genetic basis of PPGL through genetic testing can both deepen understanding of the disease and favor the individualized diagnosis,treatment and follow-up of the patients and their family members.Herein we reviewed recent studies in the field of PPGL genetics and genetic diagnosis.