Carney-stratakis syndrome D44.8

Rare (previously described in < than 20 unrelated families), familial, autosomal dominant inherited syndrome with polytopic gastrointestinal stromal tumors (GIST) and paragangliomas (Khurana A et al. 2019)

Prevalence: <1 / 1 000 000

GISTs are intramural mesenchymal tumors of the gastrointestinal tract. They develop from stem cells with the characteristics of interstitial cajal cells (the pacemaker cells that control peristalsis in the digestive tract).

Paragangliomas are usually initially benign neuroendocrine tumors that occur without clinical signs of increased endocrine secretion. They develop from cells of the paraganglia.

The vast majority of patients with Carney-Stratakis syndrome have germline mutations in the genes SDHB, SDHC and SDHD, which code for subunits of succinate dehydrogenase (SDH) (Tenorio Jiménez C et al. 2012).

late adolescence and early adulthood; median 19 years; w:m=1:1

Patients with Carney-Stratakis syndrome have both GISTs and paragangliomas. Gastric stroma sarcomas are multifocal and paragangliomas are multicentric. The clinical picture of Carney-Stratakis syndrome varies greatly depending on the location and size of the tumour. Symptoms are a palpable tumor mass, difficulty swallowing, abdominal pain. Furthermore, weight loss, bloody vomiting, melena (blood stool), constipation intestinal perforation, cranial nerve paralysis, tinnitus and hearing loss.

Clinical and radiological

The most important differential diagnosis is the Carney Triad (Alrashdi I et al. 2010).

Surgical removal, embolization and radiotherapy (Nicholas RS et al. 2015). Therapy with the protein tyrosine kinase inhibitor imatinib mesylate may be helpful in patients with advanced stages of GIST.

Paediatric GIST patients will be molecularly analyzed for SDH defects in order to anticipate possible development of additional tumors.

1. Alrashdi I et al (2010) Carney triad versus Carney Strataki's syndrome: two cases which illustrate the difficulty in distinguishing between these conditions in individual patients. Fam Cancer 9:443-447.
2. Khurana A et al (2019) Paragangliomas in Carney-Strataki's syndrome. Horm Metab Res 51:437-442.
3. Nicholas RS et al (2015) Resection of a large carotid paraganglioma in Carney-Stratakis syndrome: a multidisciplinary feat BMJ Case Rep doi: 10.1136/bcr-2014-208271. PMID: 25883251; PMCID: PMC4401907.
4. Tenorio Jiménez Cet al.(2012) Carney Stratakis syndrome in a patient with SDHD mutation Endocr pathogen 23: 181-186.