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Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations

✍ Scribed by Ellen Denayer; Koen Devriendt; Thomy de Ravel; Griet Van Buggenhout; Eric Smeets; Inge Francois; Yves Sznajer; Margarita Craen; George Leventopoulos; Léon Mutesa; Willy Vandecasseye; Guy Massa; Hulya Kayserili; Raf Sciot; Jean-Pierre Fryns; Eric Legius

Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
185 KB
Volume
49
Category
Article
ISSN
1045-2257

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✦ Synopsis

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.

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