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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations
Genes Chromosomes and Cancer, Volume 49, No. 3, Year 2010
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Description
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 NS patients with germ line SOS1 mutations. © 2009 Wiley-Liss, Inc.
Authors & Co-Authors
Devriendt, Koenraad
Belgium, Leuven
Ku Leuven
de Ravel, Thomy J.L.
Belgium, Leuven
Ku Leuven
van Buggenhout, Griet J.C.M.
Belgium, Leuven
Ku Leuven
Sznajer, Yves
Belgium, Brussels
Hospital Universitaire Des Enfants Reine Fabiola
Leventopoulos, Georgios
Greece, Athens
Aghia Sophia Children's Hospital
Mutesa, Léon
Belgium, Liege
Université de Liège
Kayserili, Hülya U.
Turkey, Istanbul
Istanbul Üniversitesi
Sciot, Raf M.
Belgium, Leuven
Ku Leuven
Legiüs, Eric
Belgium, Leuven
Ku Leuven
Statistics
Citations: 63
Authors: 9
Affiliations: 8
Identifiers
Doi:
10.1002/gcc.20735
ISSN:
10982264
Research Areas
Cancer
Health System And Policy
Maternal And Child Health
Study Design
Cross Sectional Study
Cohort Study