title: Clinico-genetic aspects of a pediatric non-neurofibromatosis type 1 malignant triton tumor with loss of chromosome X.
abstract: Malignant triton tumor (MTT) is an aggressive peripheral nerve sheath tumor with rhabdomyoblastic differentiation. Less than 100 cases have been described, being mostly male children with type 1 neurofibromatosis. We report a 6-year-old female with MTT and no diagnostic criteria for neurofibromatosis type 1. Cytogenetic analysis showed a 46,X,-X[4]/46,XX[16] karyotype. She underwent a transfemoral amputation and chemotherapy and is free of disease 15 months after diagnosis. The few cytogenetic studies of MTT described in the literature have been inconclusive. Further cytogenetic analyses are needed to understand the role of chromosome X monosomy in the pathogenesis of this rare tumor.
authors.affiliation: Department of Orthopaedics and Traumatology, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil. engel@fmrp.usp.br
authors.forename: Edgard Eduard
authors.initials: EE
authors.lastname: Engel
authors.forename: María Sol
authors.initials: MS
authors.lastname: Brassesco
authors.forename: Elvis Terci
authors.initials: ET
authors.lastname: Valera
authors.forename: Marcello Henrique
authors.initials: MH
authors.lastname: Nogueira-Barbosa
authors.forename: Maurício Eiji de Almeida Santos
authors.initials: ME
authors.lastname: Yamashita
authors.forename: Carlos Alberto
authors.initials: CA
authors.lastname: Scrideli
authors.forename: Luiz Gonzaga
authors.initials: LG
authors.lastname: Tone
mesh_terms: D002648:Child; D041321:Chromosomes, Human, X / Q000235:genetics*; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D059785:Karyotype; D008279:Magnetic Resonance Imaging; D009006:Monosomy; D009442:Neurilemmoma / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D013848:Thigh