title: Neurofibromatosis--Noonan's syndrome with associated rhabdomyosarcoma of the urinary bladder in an infant: case report.
abstract: Neurofibromatosis 1 is an autosomal dominant disorder. Noonan's syndrome is known to be associated with neurofibromatoses. Patients with neurofibromatosis are predisposed to developing malignant tumors. The relationship between the genetic changes in the neurofibromin gene and mechanisms associated with tumor development in neurofibromatosis has been investigated. A non-sense mutation C2446T --> R816X of the neurofibromin gene has been detected in some patients with the neurofibromatosis 1-Noonan's syndrome phenotype. We describe a case of an infant with the overlapping features of neurofibromatosis 1 and Noonan's syndrome who presented with rhabdomyosarcoma of the urinary bladder. The genetic analysis of our patient revealed neither mutation in the neurofibromatosis 1-guanosine triphosphatase-activating protein-related domain nor the R816X nonsense mutation. The phenotypic and genotypic features of neurofibromatosis, Noonan's syndrome, and cases with the overlapping features of both syndromes have been reviewed. The presentation of our case underlines the importance of careful examination for the clinical features of neurofibromatosis and phenotypic traits of associated diseases, especially in patients with malignant tumors.
authors.affiliation: Department of Pediatrics, Baskent University, Ankara, Turkey. pinaris2001@yahoo.com
authors.forename: Pinar Isik
authors.initials: PI
authors.lastname: Agras
authors.forename: Esra
authors.initials: E
authors.lastname: Baskin
authors.forename: A Ebru
authors.initials: AE
authors.lastname: Sakallioglu
authors.forename: I Serdar
authors.initials: IS
authors.lastname: Arda
authors.forename: Sükriye
authors.initials: S
authors.lastname: Ayter
authors.forename: Sibel
authors.initials: S
authors.lastname: Oguzkan
authors.forename: Murat
authors.initials: M
authors.lastname: Derbent
authors.forename: Füsun
authors.initials: F
authors.lastname: Alehan
authors.forename: Akgün
authors.initials: A
authors.lastname: Hicsonmez
authors.forename: Umit
authors.initials: U
authors.lastname: Saatci
mesh_terms: D001706:Biopsy; D018389:Codon, Nonsense; D003558:Cystoscopy; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D003952:Diagnostic Imaging; D005091:Exons; D020690:GTPase-Activating Proteins / Q000235:genetics; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D025542:Neurofibromin 1 / Q000235:genetics; D009634:Noonan Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D010641:Phenotype; D012208:Rhabdomyosarcoma / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D001743:Urinary Bladder / Q000473:pathology; D001749:Urinary Bladder Neoplasms / Q000150:complications* / Q000175:diagnosis / Q000235:genetics
chemical_list: D018389:Codon, Nonsense; D020690:GTPase-Activating Proteins; D025542:Neurofibromin 1