Advances in Diagnosis and Treatment of Hereditary Carotid Body Tumors
10.3971/j.issn.1000-8578.2026.26.0014
- VernacularTitle:遗传性颈动脉体瘤的诊疗进展
- Author:
Siwei WAN
1
;
Bingqian YANG
1
;
Yongping WANG
1
;
Anyuan ZHENG
1
;
Yang JIANG
1
;
Qingquan HUA
1
Author Information
1. Department Otolaryngology-Head and Neck Surgery, Renmin Hospital of Wuhan University, Wuhan 430060, China.
- Publication Type:SPECIALFEATURE
- Keywords:
SDHx;
Hereditary carotid body tumor;
Clinical features
- From:
Cancer Research on Prevention and Treatment
2026;53(6):423-429
- CountryChina
- Language:Chinese
-
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.
