Carney Stratakis Syndrome
| Classification according to ICD-10 | |
|---|---|
| D44.8 | Involvement of several endocrine glands |
| ICD-10 online (WHO version 2019) | |
The Carney-Stratakis syndrome is a very rare congenital disease consisting of a combination of gastrointestinal stromal tumor (GIST) and paragangliomas .
Synonyms are: Carney Stratakis Dyad; GIST paraganglioma dyad; Paraganglioma and gastric stroma sarcoma
The name refers to the first author of the first description from 2002 by the American pathologist J. Aiden Carney .
The disease is not to be confused with
- the non-hereditary Carney triad ( English Carney's syndrome ), an association of GISTs, paragangliomas and chondromas of the lungs
- the Carney complex (or Carney syndrome ), a complex of myxomas, skin spots, and overactive hormones.
distribution
The frequency is given as less than 1 in 1,000,000, inheritance is autosomal dominant .
root cause
The disease is based on mutations in the SDHB gene at locus 1p36.13, in the SDHC gene at 1q23.3 or in the SDHD gene at 11q23.1, which code for subunits of succinate dehydrogenase (SDH). Other genetic changes as the cause have been described.
Clinical manifestations
Clinical criteria are:
- Manifestation in young adulthood
- Multifocal gastric stroma sarcomas
- multicenter paragangliomas
diagnosis
The diagnosis is based on the findings of the clinical examination and medical imaging .
Children with GIST should be screened for an SDH defect using molecular genetic testing.
Differential diagnosis
The most important differential diagnosis is the Carney triad .
therapy
The treatment is directed against the two tumors as described in the respective articles.
Individual evidence
- ↑ a b c d 12880 Carney-Stratakis syndrome. In: Orphanet (Rare Disease Database).
- ^ Who named it Carney
- ↑ JA Carney, CA Stratakis: Familial paraganglioma and gastric stromal sarcoma: a new syndrome distinct from the Carney triad. In: American journal of medical genetics. Vol. 108, No. 2, March 2002, pp. 132-139, PMID 11857563 .
- ↑ JA Carney, SG Sheps, VL Go, H. Gordon: The triad of gastric leiomyosarcoma, functioning extra-adrenal paraganglioma and pulmonary chondroma. In: The New England Journal of Medicine . Vol. 296, No. 26, June 1977, pp. 1517-1518, doi: 10.1056 / NEJM197706302962609 , PMID 865533 .
- ^ Who named it Carney's syndrome
- ↑ Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
- ↑ Paraganglioma and gastric stromal sarcoma. In: Online Mendelian Inheritance in Man . (English)
- ↑ B. Pasini, SR McWhinney, T. Bei, L. Matyakhina, S. Stergiopoulos, M. Muchow, SA Boikos, B. Ferrando, K. Pacak, G. Assie, E. Baudin, A. Chompret, JW Ellison, JJ Briere, P. Rustin, AP Gimenez-Roqueplo, C. Eng, JA Carney, CA Stratakis: Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD. In: European Journal of Human Genetics : EJHG. Vol. 16, No. 1, January 2008, pp. 79-88, doi: 10.1038 / sj.ejhg . 5201904 , PMID 17667967 .
- ↑ D. Gasparotto, S. Rossi, D. Campagna, P. Scavina, FD Tiziano, A. Marzotto, L. Toffolatti, CE Vitelli, M. Amini, AP Dei Tos, R. Maestro: Imatinib-Sensitizing KIT Mutation in a Carney-Stratakis-Associated GI Stromal Tumor. In: Journal of Clinical Oncology : official journal of the American Society of Clinical Oncology. [Electronic publication before printing] December 2014, doi: 10.1200 / JCO.2012.44.7300 , PMID 25547508 .
