title: Two neurofibromatosis type 1 cases associated with rhabdomyosarcoma of bladder, one with a large deletion in the NF1 gene.
abstract: Neurofibromatosis type 1 (NF1) is the most common neurogenetic disorder, affecting approximately 1 in 3,500 individuals worldwide. Mutations of the NF1 tumor suppressor gene predispose individuals to a variety of benign and malignant tumors. Rhabdomyosarcoma (RMS) is an uncommon malignant soft tissue sarcoma and is also a rare tumor type in NF1 patients. We report two cases of NF1 with RMS. The first is that of an infant with overlapping phenotypic features of NF1 and Noonan syndrome (NS) who presented with RMS of the bladder. The second infant likewise exhibited NF1 features and was also associated with bladder RMS. DNA samples were extracted from peripheral blood and tumor tissue samples. We performed loss of heterozygosity (LOH) analysis of the NF1 gene by using seven intragenic markers (IVS27AAAT2.1, IVS27EVI-20, IVS27AC24.8, IVS27AC28.4, M98509, IVS27AC33.1, IVS38TG53.0) and one extragenic polymorphic marker (3'NF1). A large deletion was detected in the NF1 gene in the NF1-Noonan syndrome (NF-NS) case associated with RMS.
authors.affiliation: Medical Biology, University of Gaziantep, Faculty of Medicine, Gaziantep, Turkey.
authors.forename: Sibel
authors.initials: S
authors.lastname: Oguzkan
authors.forename: Yunus Kasim
authors.initials: YK
authors.lastname: Terzi
authors.forename: Elif
authors.initials: E
authors.lastname: Güler
authors.forename: Murat
authors.initials: M
authors.lastname: Derbent
authors.forename: Pinar Isik
authors.initials: PI
authors.lastname: Agras
authors.forename: Umit
authors.initials: U
authors.lastname: Saatci
authors.forename: Sukriye
authors.initials: S
authors.lastname: Ayter
mesh_terms: D017353:Gene Deletion; D016514:Genes, Neurofibromatosis 1; D005819:Genetic Markers; D006801:Humans; D007223:Infant; D019656:Loss of Heterozygosity; D008297:Male; D009456:Neurofibromatosis 1 / Q000235:genetics* / Q000473:pathology; D009634:Noonan Syndrome / Q000235:genetics; D012208:Rhabdomyosarcoma / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D014463:Ultrasonography; D001749:Urinary Bladder Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology
chemical_list: D005819:Genetic Markers