肿瘤防治研究2026，Vol.53Issue(6)：423-429,7.DOI:10.3971/j.issn.1000-8578.2026.26.0014
遗传性颈动脉体瘤的诊疗进展
Advances in Diagnosis and Treatment of Hereditary Carotid Body Tumors
万思维 1杨冰倩 1王永平 1郑安元 1江洋 1华清泉1
作者信息
- 1. 430060 武汉,武汉大学人民医院耳鼻咽喉-头颈外科
- 折叠
摘要
Abstract
Hereditary carotid body tumor(HCBT)is a rare neuroendocrine tumor mainly caused by germline mutations of the SDHx gene.Its multifocality,familial aggregation,and potential malignant risk pose unique challenges to diagnosis and treatment.This review systematically expounds the molecular mechanism of HCBT,pointing out that SDHx mutations drive tumorigenesis through the"pseudo-hypoxia"pathway and are regulated by epigenetic and somatic mutations.In terms of diagnosis,we emphasize the crucial role of 68Ga-DOTATATE PET/CT and SDHB immunohistochemistry and advocate for multigene panel sequencing for patients with high-risk characteristics(such as early-onset,multifocal,family history or malignant signs)to clarify the genetic background.On the basis of existing evidence,we recommend conducting baseline biochemical tests for all newly diagnosed patients and actively suggest genetic screening for high-risk individuals such as those who are young,have multifocal tumors,or have a family history.In terms of treatment,surgery is the main treatment method for HCBT.Nevertheless,individualized strategies still need to be formulated based on tumor classification and patient's overall condition and genetic background.Comprehensive management measures such as targeted therapy,radionuclide therapy,and standardized family management are crucial for improving the prognosis of patients.关键词
SDHx基因/遗传性颈动脉体瘤/临床特征Key words
SDHx/Hereditary carotid body tumor/Clinical features分类
医药卫生引用本文复制引用
万思维,杨冰倩,王永平,郑安元,江洋,华清泉..遗传性颈动脉体瘤的诊疗进展[J].肿瘤防治研究,2026,53(6):423-429,7.
