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Clinico‐genetic aspects of a pediatric non‐neurofibromatosis type 1 malignant triton tumor with loss of chromosome X
Author(s) -
Engel Edgard Eduard,
Brassesco María Sol,
Valera Elvis Terci,
NogueiraBarbosa Marcello Henrique,
Yamashita Maurício Eiji de Almeida Santos,
Scrideli Carlos Alberto,
Tone Luiz Gonzaga
Publication year - 2012
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.24197
Subject(s) - neurofibromatosis , medicine , neurofibromatosis type i , malignant peripheral nerve sheath tumor , karyotype , monosomy , pathology , neuroblastoma , amputation , cancer , cancer research , chromosome , genetics , surgery , biology , gene , cell culture
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: 1320–1323. © 2012 Wiley Periodicals, Inc.