Nationwide study of patients with head and neck paragangliomas carrying SDHB germline mutations

Abstract

BackgroundGermline mutations in the succinate dehydrogenase B (SDHB) gene predispose to hereditary paraganglioma (PGL) syndrome type 4. The aim of this study was to evaluate the clinical characteristics and outcome of treatment strategies for patients with head and neck paraganglioma (HNPGL) carrying SDHB germline mutations.MethodsThis was a retrospective evaluation of patients with HNPGL carrying SDHB germline mutations in the Netherlands.ResultsIn a Dutch nationwide cohort study of SDHB germline mutation carriers, 54 patients with a total of 62 HNPGLs were identified. Forty‐one of 54 patients (76 per cent) visited the outpatient clinic because of associated complaints. Eight patients (15 per cent) had multiple PGLs. One patient (2 per cent) developed a phaeochromocytoma and three (6 per cent) developed a malignant PGL. Twenty‐seven patients (50 per cent) had an operation for their HNPGL and 15 (28 per cent) received radiotherapy. Three patients with HNPGL (6 per cent) were diagnosed with additional non‐paraganglionic tumours.ConclusionIf an SDHB germline mutation is identified in a patient with HNPGL, the clinician should be aware of the variable manifestations of the SDHB‐linked tumour syndrome, the risk of catecholamine excess, concurrent phaeochromocytoma, and association with non‐paraganglionic tumours.

Head and Neck Paraganglioma Atypically Carrying a <i>Succinate Dehydrogenase Subunit B</i> Mutation (L157X)

“…HNPGL is derived from neural crest cells and does not generally secrete catecholamine, developing along parasympathetic nerves (11). In association with SDH mutations, approximately 80%-98% of SDHD mutation carriers have head and neck lesions, while 15%-31% of SDHB mutation carriers also have HNPGL (3,8,12).…”

SDHB mutated paraganglioma imitating thyroid tumor: A case report and review of literature

“…[1,26,27] Head and neck paragangliomas have higher risk for SDHD mutation carriers (60%-79%), but SDHB mutated head and neck paragangliomas may also have potential for malignancy. [11] Although, previously SDHB negative tumors in this localization were considered as completely benign, [10] they may metastasize, be multiple (15%) or even have associations with pheochromocytomas (2%) and other non-paraganglionic tumors (3%) in some cases. [11,12] Of these reasons, SDHB mutated head and neck tumors do not have to be single out entirely from SDHB mutated tumors in other localizations, considering further surveillance.…”

“…[11] Although, previously SDHB negative tumors in this localization were considered as completely benign, [10] they may metastasize, be multiple (15%) or even have associations with pheochromocytomas (2%) and other non-paraganglionic tumors (3%) in some cases. [11,12] Of these reasons, SDHB mutated head and neck tumors do not have to be single out entirely from SDHB mutated tumors in other localizations, considering further surveillance. [11] After detection of genetical mutations in SDH family genes, patients with hereditary PG syndromes should be closely observed not only for potential tumor recurrence, multifocality and distant metastases, but also newly arising tumors in other typical locations.…”

“…[11,12] Of these reasons, SDHB mutated head and neck tumors do not have to be single out entirely from SDHB mutated tumors in other localizations, considering further surveillance. [11] After detection of genetical mutations in SDH family genes, patients with hereditary PG syndromes should be closely observed not only for potential tumor recurrence, multifocality and distant metastases, but also newly arising tumors in other typical locations. [3,8,27,28] Active multicomplex surveillance may help to diagnose neoplasm in early stages, manage them with surgical treatment and prevent spreading of malignancies.…”

“…[10] In the latest literature SDHB negative head and neck paragangliomas not only metastasized, occurred for younger patients but also had variable manifestation of the SDHB-linked tumor syndrome, including catecholamine producing pheochromocytomas. [11,12] Of these reasons, SDHB mutated head and neck paragangliomas may require a long-term follow-up for patients and testing for their family members as well as SDHB mutated tumors in other localizations. [1,3,[12][13][14]…”