Rare Medical News

5 Facts you should know about

Carney-Stratakis syndrome

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1

Characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites

2

Unlike the Carney triad, this is considered to be an inherited syndrome

3

Believed to be caused by SDHD, SDHB, or SDHC germline mutations

4

GIST are multifocal and the paragangliomas are multicentric

5

Carney-Stratakis syndrome is caused by SDH defects, suggesting that GIST can be caused by defective mitochondrial oxidation

Rare Medical News