Carotid body tumor with neck metastasis due to germline SDHB variant: a case report and literature review.

ABSTRACT: Carotid body tumor involving the succinate dehydrogenase subunit B (SDHB) variant reportedly had a higher frequency of metastasis than other variants of succinate dehydrogenase. However, the correlation between genotype and phenotype among patients with carotid body tumor with SDHB gene variant remains unclear. Thus, we present a case of carotid body tumor with neck lymph metastasis caused by a novel SDHB variant, which resulted in long-term disease-free survival achieved after surgery. A 43-year-old man presented to our hospital with a 2-year history of a painless neck mass. Based on the radiographic findings, the patient was diagnosed with carotid body tumor with a possible Shamblin type III tumor. Another mass was detected and suspected to be a lymph node metastasis. The p

SUBMITTER: Mikoshiba T 

PROVIDER: S-EPMC8786989 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature