Results of surgical resection of carotid body tumors: A twenty-year experience

This study examines whether surgical resection of carotid body tumors (CBTs) is acceptable in light of potential significant neurologic complications. This IRB-approved retrospective study analyzed data from 24 patients undergoing surgical treatment for CBTs between April 1998 and April 2017 at Mayo Clinic (Florida campus only). For patients who underwent multiple CBT resections, only data from the first surgery was used in this analysis. CBT resection occurred in 24 patients with the following demographics: fourteen patients (58.3%) were female, median age was 56.5 years, median BMI was 29. A prior history of neoplasm was found in ten patients (41.7%). A known family history of paraganglioma was present in five patients (20.8%). Two patients were positive for succinate dehydrogenase mutation (8.3%). Multiple paragangliomas were present in seven patients (29.2%). There was nerve sacrifice in three patients (12.5%) during resection. Carotid artery reconstruction and patch angioplasty occurred in one patient (4.2%). Complete resection occurred in 24 patients (100.0%). Postoperatively, one patient (4.2%) suffered stroke. No mortalities occurred within or beyond 30 days of surgery. Persistent cranial nerve injury occurred in two patients (8.3%) with vocal cord paralysis. There was no recurrence of CBT through last follow-up. Five patients (20.8%) were diagnosed with other neoplasms after resection, including basal cell carcinoma, contralateral carotid body tumor, glomus vagale, and glomus jugulare. There was 100% survival at 1 year in patients followed for that time ( n = 17). Surgical treatment remains the first-line curative treatment to relieve symptoms and ensure non-recurrence. While acceptable, neurologic complications are significant and therefore detailed preoperative informed consent is mandatory.

Clinicopathological, immunophenotypic and genetic studies of mediastinal paragangliomas†

OBJECTIVES Paragangliomas have unique features in the mediastinum, in part due to their location. Because of their paucity, they have not been thoroughly investigated. We studied the clinical, pathological, immunohistochemical and molecular features of mediastinal paragangliomas. METHODS Immunohistochemistry, next-generation sequencing mutation panel and the Oncoscan assay were performed. RESULTS Twenty-four patients with mediastinal paraganglioma (7 men, 29.2%) had a median age of 45.5 years (19.8–72.2). Twenty-one (87.5%) paragangliomas were completely resected. Six (of 24, 25.0%) tumours were considered metastatic. Mitotic activity occurred in 11 (of 24, 45.8%) paragangliomas. Programmed death-ligand 1 (PD-L1) (n = 23) was expressed in 6 (26%) patients in 10% (n = 2) and 1% (n = 4) of tumour cells, respectively. SDHB expression was lost in 19 (of 22, 86.4%) cases. ATRX expression was lost in 11 (of 23, 47.8%) cases. Next-generation sequencing revealed a single pathogenic mutation in 10 (of 19) specimens including SDHB (n = 4), SDHD (n = 6), SDHC (n = 1), ATRX (n = 1), and ≥2 mutations in 2 cases [SDHC and TERT (n = 1); SDHB, ATRX and TP53 (n = 1)]. Germline mutation analysis revealed the same succinate dehydrogenase mutation (or lack thereof) as identified in the paraganglioma in 11 (of 12) cases. During a median follow-up (n = 21) of 4.8 years (0.8–14.9), 3 patients developed metastases; 4 patients died, at least 1 of disease. CONCLUSIONS Mediastinal paragangliomas can be associated with morbidity and mortality. Many mediastinal paragangliomas have been reported to be associated with syndromes such as multiple endocrine neoplasia, von Hippel-Lindau or succinate dehydrogenase syndrome with mutation profiles dominated by alterations in genes associated with these syndromes.