Clinico-genetic aspects of a pediatric non-neurofibromatosis type 1 malignant triton tumor with loss of chromosome X

Autor(es)

Engel, Edgard Eduard ^[1] ; Brassesco, Maria Sol ^[2] ; Valera, Elvis Terci ^[2] ; Nogueira-Barbosa, Marcello Henrique ^[3] ; de Almeida Santos Yamashita, Mauricio Eiji ^[4] ; Scrideli, Carlos Alberto ^[2] ; Tone, Luiz Gonzaga ^[2]

Afiliação do(s) autor(es)

^[1] Univ Sao Paulo, Dept Orthopaed & Traumatol, Sch Med Ribeirao Preto, BR-14049 Ribeirao Preto - Brazil

^[2] Univ Sao Paulo, Div Pediat Oncol, Sch Med Ribeirao Preto, Dept Pediat, BR-14049 Ribeirao Preto - Brazil

^[3] Univ Sao Paulo, Div Diagnost Imaging, Sch Med Ribeirao Preto, Dept Internal Med, BR-14049 Ribeirao Preto - Brazil

^[4] Univ Sao Paulo, Dept Pathol, Sch Med Ribeirao Preto, BR-14049 Ribeirao Preto - Brazil

• Tipo de documento: Artigo Científico
• Fonte: PEDIATRIC BLOOD & CANCER; v. 59, n. 7, p. 1320-1323, DEC 2012.
• Citações Web of Science: 2

Resumo

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. Pediatr Blood Cancer 2012; 59: 13201323. (C) 2012 Wiley Periodicals, Inc. (AU)

• Processo FAPESP: 10/15717-0 - Análise de aberrações cromossômicas em neoplasias da Infância através de citogenética convencional e Hibridização in situ fluorescente (FISH)
• Beneficiário: Elvis Terci Valera
• Modalidade de apoio: Auxílio à Pesquisa - Regular
• Processo FAPESP: 10/16652-9 - Inibição do NF-kB em glioblastoma: efeitos in vitro e in vivo do DHMEQ na quimioresistência, invasão e proliferação tumoral
• Beneficiário: María Sol Brassesco Annichini
• Modalidade de apoio: Bolsas no Brasil - Jovens Pesquisadores