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

AbstractCarotid 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 withSDHB gene variant remains unclear. Thus, we present a case of carotid body tumor with neck lymph metastasis caused by a novelSDHB 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 patient underwent resection of the tumor and lymph nodes. The common carotid artery, internal carotid artery, external carotid artery, internal jugular vein, vagal nerve, and hypoglossal nerve were resected with the tumor. Histopathological examination revealed a paraganglioma. The histological findings of the lymph nodes were similar to those of the carotid body tumor and were confirmed to be metastases of paraganglioma. To analyze the germlineSDHx variant, a nonsense variant was detected in theSDHB gene at exon 2, c. 136C  >  T, p. Arg46*. During the follow-up 80 months after surgery, the patient exhibited no signs of recurrence, metastasis, or development of paragangliomas in other organs....
Source: International Cancer Conference Journal - Category: Cancer & Oncology Source Type: research