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GTR Home > Conditions/Phenotypes > Carney-Stratakis syndrome

Summary

A familial syndrome characterized by gastrointestinal stromal tumors and paragangliomas, often at multiple sites. It is a very rare syndrome presenting at a young age. The gastric stromal sarcomas are multifocal and the paragangliomas are multicentric. The clinical spectrum of this syndrome varies widely, depending on the localization and the size of the tumors. The vast majority of cases are due to germline mutations of the succinate dehydrogenase (SDH) subunit genes SDHB, SDHC and SDHD. Predisposition to developing these tumors is inherited in an autosomal dominant manner with incomplete penetrance. [from SNOMEDCT_US]

Genes See tests for all associated and related genes

  • Also known as: CWS2, IP, MC2DN4, PGL4, PPGL4, SDH, SDH1, SDH2, SDHIP, SDHB
    Summary: succinate dehydrogenase complex iron sulfur subunit B

  • Also known as: CYB560, CYBL, PGL3, PPGL3, QPS1, SDH3, SDHC
    Summary: succinate dehydrogenase complex subunit C

  • Also known as: CBT1, CII-4, CWS3, MC2DN3, PGL, PGL1, PPGL1, QPs3, SDH4, cybS, SDHD
    Summary: succinate dehydrogenase complex subunit D

Clinical features

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Suggested reading

Practice guidelines

  • NCCN, 2024
    NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®), Soft Tissue Sarcoma, 2024

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