Paraganglioma and gastric stromal sarcoma

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites.

It is a very rare syndrome reported in less than 20 unrelated families to date. It presents at a young age (median age: 19 years) with an apparently equal ratio of male and female patients.

Patients with Carney-Stratakis syndrome have both GIST and paraganglioma. The gastric stromal sarcomas are multifocal and the paragangliomas are multicentric. The clinical spectrum of Carney-Stratakis syndrome varies widely, depending on the localization and the size of the tumors, and may include a palpable mass, dysphagia, abdominal pain, weight loss, hematemesis, melena, obstruction, perforation, cranial nerve palsies, tinnitus and hearing loss. GIST are intramural mesenchymal tumors of the gastrointestinal tract that originate from stem cells with characteristics of the interstitial cells of Cajal (the pacemaker cells which regulate peristalsis in the digestive tract). Paragangliomas are usually benign tumors that occur without clinical evidence of oversecretion and that arise within the sympathetic nervous system from cells of the paraganglia.

The vast majority of Carney-Stratakis syndrome cases are due to germline mutations of the succinate dehydrogenase (SDH) subunit genes SDHB, SDHC and SDHD.

Diagnosis is made by clinical and radiologic examination, and confirmed immunohistochemically. Genetic testing to determine if SDH defects may be contributing to tumor growth or recurrence should be offered to pediatric GIST patients.

The main differential diagnosis includes Carney triad.

Predisposition to developing these tumors is inherited in an autosomal dominant manner with incomplete penetrance.

Treatment modalities are surgery, embolization and radiotherapy. Chemotherapy with imatinib mesylate may be helpful for some patients with advanced-stage GIST. Targeting SDH function may potentiallybe useful in treating Carney-Stratakis syndrome patients but, at present, there are no drugs that restore SDH function. Life-long follow-up should be offered to patients with Carney-Stratakis syndrome.

Visit the Orphanet disease page for more resources.

Last updated: 1/1/2008

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

• Iobenguane I 131 (Brand name: Azedra) - Manufactured by Progenics Pharmaceuticals, Inc.
  FDA-approved indication: July 2018, iobenguane I 131 (Azedra) was approved for the treatment of adult and pediatric patients 12 years and older with iobenguane scan positive, unresectable, locally advanced or metastatic pheochromocytoma or paraganglioma who require systemic anticancer therapy.
  National Library of Medicine Drug Information Portal

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