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Tumor Spectrum in Children With Noonan Syndrome and SOS1 or RAF1 Mutations

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Denayer, Ellen [UCL] Devriendt, Koen [UCL] de Ravel, Thomy [UCL] Van Buggenhout, Griet [UCL] Smeets, Eric [UCL] Francois, Inge [UCL] Vandecasseye, Willy [UCL] Sciot, Raf [UCL] Fryns, Jean-Pierre [UCL] Legius, Eric [UCL]

Noonan syndrome (NS) is an autosomal dominant disorder caused by mutations in PTPN11, KRAS, SOS1, and RAF1 We performed SOS1, RAF1, BRAF MEK1, and MEK2 mutation analysis in a cohort of 102 PTPN11- and KRAS-negative NS patients and found pathogenic SOS1 mutations in 10, RAF1 mutations in 4, and BRAF mutations in 2 patients. Three novel SOS1 mutations were found. One was classified as a rare benign variant and the other remains unclassified. We confirm a high prevalence of pulmonic stenosis and ectodermal abnormalities in SOS1-positive patients. Three patients with SOS1 mutations presented with tumors (embryonal rhabdomyosarcoma, Sertoli cell testis tumor, and granular cell tumors of the skin). One patient with a RAF1 mutation had a lesion suggestive for a giant cell tumor. This is the first report describing different tumor types in ISIS patients with germ line SOS1 mutations. (C) 2009 Wiley-Liss, Inc.

Document type Article de périodique (Journal article) – Article de recherche
Publication date 2010
Language Anglais
Journal information "Genes, Chromosomes & Cancer" - Vol. 49, no. 3, p. 242-252 (2010)
Peer reviewed yes
Publisher Wiley-liss (Hoboken)
issn 1045-2257
e-issn 1098-2264
Publication status Publié
Affiliation UCL
Links
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Bibliographic reference Denayer, Ellen ; Devriendt, Koen ; de Ravel, Thomy ; Van Buggenhout, Griet ; Smeets, Eric ; et. al. Tumor Spectrum in Children With Noonan Syndrome and SOS1 or RAF1 Mutations. In: Genes, Chromosomes & Cancer, Vol. 49, no. 3, p. 242-252 (2010)
Permanent URL http://hdl.handle.net/2078.1/34826