肾上腺皮质肿瘤的分子生物学机制

Molecular pathways in human adrenocortical tumors

基因组学技术的发展,使得人们逐步阐明了与肾上腺皮质肿瘤发生有关的部分异常基因。基因编码的离子通道KCNJ5、ATPases和调节胞内钙离子平衡的CACNA1D的体细胞突变与醛固酮瘤的发生密切相关;PRKACA突变与皮质醇分泌瘤有关;近期在ACTH非依赖性双侧肾上腺大结节样增生中检测到ARMC5基因突变,ZNRF3基因突变与皮质癌相关。分子生物学研究有助于进一步明确肾上腺肿瘤发病机制及分型诊断,为寻找更有效的诊断程序和治疗方案奠定基础。

The recently available genomic sequencing techniques have led to breakthroughs in understanding of the underlying genetic mechanisms in adrenocortical tumors. New major drivers in all tumor types, including KCNJ5, ATP1A1, ATP2B3 and CACNA1D mutations in aldosterone-producing adenomas （APA）, PRKACA mutations in cortisol-producing adenomas （CPA）, ARMCS mutations in primary bilateral macronodular adrenocortical hyperplasia （PBMAH） and ZNRF3 mutations in adrenocortical carcinomas （ACC）. Identifying the main molecular groups of adrenocortical tumors by extensively gathering the molecular variations is a significant step forward towards precision diagnosis and medicine