(Carney diad, GIST-paraganglioma diad)
Very rare. Autosomal dominant transmission, with variable penetrance, of a mutation of the SDHB, SDHC or SDHD gene coding for parts of succinate dehydrogenase. Onset in adolescence or early adulthood.
- gastrointestinal multifocal stromal tumors (GIST acronym for Gastro Intestinal Stromal Tumors) : intramural mesenchymal tumors of the gastrointestinal tract, derived from Cajal cells which are responsible for peristalsis. Often indolent, the first sign may be: upper gastrointestinal bleeding, pain, anemia, dysphagia, occlusion or an abdominal mass.
- extra-adrenal paragangliomas, frequently mediastinal. They are benign and generally not secreting.
Treatment of GIST and the paragangliomas: surgical resection, embolization, sometimes radiotherapy. Adjuvant medical treatment by imatinib mesylate is being evaluated.
check for anemia; chest XRay to find a paraganglioma.
Updated: November 2019