Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD and gene mutations

Hartmut P H Neumann, Christian Pawlu, Mariola Pȩczkowska, Birke Bausch, Sarah R. McWhinney, Mihaela Muresan, Mary Buchta, Gerlind Franke, Joachim Klisch, Thorsten A. Bley, Stefan Hoegerle, Carsten C. Boedeker, Giuseppe Opocher, Jörg Schipper, Andrzej Januszewicz, Charis Eng

Research output: Contribution to journalArticlepeer-review


Context: Germline mutations of the genes encoding succinate dehydrogenase subunits B (SDHB) and D (SDHD) predispose to paraganglioma syndromes type 4 (PGL-4) and type 1 (PGL-1), respectively. In both syndromes, pheochromocytomas as well as head and neck paragangliomas occur; however, details for individual risks and other clinical characteristics are unknown. Objective: To determine the differences in clinical features in carriers of SDHB mutations and SDHD mutations. Design, Setting, and Patients: Population-based genetic screening for SDHB and SDHD germline mutations in 417 unrelated patients with adrenal or extra-adrenal abdominal or thoracic pheochromocytomas (n=334) or head and neck paragangliomas (n=83), but without syndromic features, from 2 registries based in Germany and central Poland, conducted from April 1, 2000, until May 15, 2004. Main Outcome Measures: Demographic and clinical findings with respect to gene mutation in SDHB vs SDHD compared with nonmutation carriers. Results: A total of 49 (12%) of 417 registrants carried SDHB or SDHD mutations. In addition, 28 SDHB and 23 SDHD mutation carriers were newly detected among relatives of these carriers. Comparison of 53 SDHB and 47 SDHD total mutation carriers showed similar ages at diagnosis but differences in penetrance and of tumor manifestations. Head and neck paragangliomas (10/32 vs 27/34, respectively, P

Original languageEnglish
Pages (from-to)943-951
Number of pages9
JournalJournal of the American Medical Association
Issue number8
Publication statusPublished - Aug 25 2004

ASJC Scopus subject areas

  • Medicine(all)


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