Reference : Germline PTPN11 missense mutation in a case of Noonan syndrome associated with medias...
Scientific journals : Article
Human health sciences : Pediatrics
Germline PTPN11 missense mutation in a case of Noonan syndrome associated with mediastinal and retroperitoneal neuroblastic tumors.
Mutesa, Léon [> > > >]
Pierquin, Geneviève mailto [Centre Hospitalier Universitaire de Liège - CHU > > Génétique >]
Janin, Nicolas mailto [Centre Hospitalier Universitaire de Liège - CHU > > Génétique >]
Segers, Karin mailto [Centre Hospitalier Universitaire de Liège - CHU > > Génétique >]
Thomee, Caroline [> > > >]
Provenzi, Massimo [> > > >]
Bours, Vincent mailto [Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Génétique générale et humaine >]
Cancer Genetics & Cytogenetics
Elsevier Science
Yes (verified by ORBi)
New York
[en] Abnormalities, Multiple ; Female ; Germ-Line Mutation ; Humans ; Infant ; Mediastinal Neoplasms/complications/genetics ; Mutation, Missense ; Neuroblastoma/complications/genetics ; Noonan Syndrome/complications/genetics ; Protein Tyrosine Phosphatase, Non-Receptor Type 11/genetics ; Retroperitoneal Neoplasms/complications/genetics
[en] Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, typical craniofacial dysmorphism, skeletal anomalies, congenital heart defects, and predisposition to malignant tumors. In approximately 50% of cases, the disease is caused by missense mutations in the PTPN11 gene. To date, solid tumors, and particularly brain tumors and rhabdomyosarcomas, have been documented in patients with NS; however, few cases of neuroblastoma associated with NS have been reported. Here we report an unusual case of neuroblastoma with mediastinal, retroperitoneal, and medullar locations associated in a NS patient carrying a PTPN11 germline missense mutation (p.G60A). This missense mutation occurs within the N-SH2 domain of the PTPN11 gene and has been reported to be associated with acute leukemia in NS patients. The association of this p.G60A PTPN11 mutation with neuroblastoma provides new evidence that gain of function PTPN11 mutations may play an important role in the pathogenesis of solid tumors associated with Noonan syndrome.

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