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Risk of malignant paraganglioma in SDHB-mutation and SDHD-mutation carriers: a systematic review and meta-analysis
  1. Leonie Theresia van Hulsteijn1,
  2. Olaf M Dekkers1,2,
  3. Frederik J Hes3,
  4. Jan W A Smit1,
  5. E P M Corssmit1
  1. 1Department of Endocrinology and Metabolic Diseases, Leiden University Medical Center, Leiden, The Netherlands
  2. 2Department of Epidemiology, Leiden University Medical Center, Leiden, The Netherlands
  3. 3Center of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
  1. Correspondence to Leonie Theresia van Hulsteijn, Department of Endocrinology and Metabolic Diseases, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden, The Netherlands; L.T.van_Hulsteijn{at}lumc.nl

Abstract

The main objective of this study was to perform a systematic review and meta-analysis on the risk of developing malignant paraganglioma (PGL) in SDHB-mutation and SDHD-mutation carriers. PubMed, EMBASE, Web of Science, COCHRANE and Academic Search Premier (2000–August 2011) and references of key articles were searched to identify potentially relevant studies. The main outcomes were the pooled incidence and prevalence of malignant PGL in SDHB-mutation and SDHD-mutation carriers. A meta-analysis was performed with an exact likelihood approach using a logistic regression with a random effect at the study level. Twelve studies were included. The pooled incidence of malignant PGL in populations comprising both asymptomatic mutation carriers and mutation carriers with manifest non-malignant PGL was 17% (95% CI 10 to 28) for SDHB-mutation carriers and 8% (95% CI 2 to 26) for SDHD-mutation carriers. The pooled risk in prevalence studies was 13% (95% CI 4 to 34) and 4% (95% CI 2 to 7), respectively. In studies comprising only mutation carriers with manifest disease, the pooled prevalence was 23% (95% CI 16 to 33) for SDHB-mutation and 3% (95% CI 1 to 10) for SDHD-mutation carriers. Incidence and prevalence of malignant PGL are higher in SDHB-mutation than in SDHD-mutation carriers, but lower in SDHB-mutation carriers than hitherto appreciated.

  • Cancer: endocrine
  • Clinical genetics
  • Genetic screening/counselling

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