[MIM 604 287]

Very rare. Onset in adolescence or early adulthood. Female predominance. Deficiency in succinate dehydrogenase due to chromosomal losses. 

Non-heritable affection where can be found an association of:

-         gastrointestinal stromal tumors (GIST acronym for Gastro Intestinal Stromal Tumors): intramural mesenchymal tumors of the gastrointestinal tract, derived from the Cajal cells responsible for peristalsis. Often indolent, may be revealed by upper gastrointestinal bleeding, pain, anemia or an abdominal mass.

-         pulmonary chondroma: uni - (83 %) or bilateral (32 %), and generally asymptomatic

-         extra-adrenal paragangliomas mostly located in the mediastinum  (50 %), their median onset time is around 6 years after the diagnosis of GIST. They are secreting in 50 % of cases and can cause hypertension and tachycardia. They are malignant in 10 % of cases.

Treatment of GIST and the paragangliomas: surgical resection. Medical adjuvant treatment by imatinib mesylate is being evaluated.

Anesthetic implications: 

check for anemia; chest X-Ray to assess the importance of the chondroma and to look for a paraganglioma. In case of secreting paraganglioma, perioperative management of a catecholamines secreting tumor (cfr pheochromocytoma).

References : 

Updated: November 2019