title: Complex karyotype defined by molecular cytogenetic FISH and M-FISH in an infant with acute megakaryoblastic leukemia and neurofibromatosis.
abstract: Acute myeloid leukemia in childhood is a heterogeneous group of diseases, and different epidemiologic factors are involved in the etiopathogenesis. Genetic syndromes are one of the predisposing factors of acute myeloid leukemia (AML), including Down syndrome, Bloom syndrome, and neurofibromatosis. Acute megakaryoblastic leukemia (AMKL) is the main subtype in Down syndrome infants, and acquired chromosomal anomalies are closely related to the physiopathology of the illness. The main chromosomal anomalies in AMKL are structural, such as t(1;22); however, complex karyotypes are also common. Here we describe the case of an infant with neurofibromatosis developing AMKL with a complex karyotype including 5q and 17q deletions, TP53 deletion, and an unusual unbalanced chromosomal translocation t(11;19)(q13;p13), leading to three copies of the MLL gene.
authors.affiliation: Pediatric Oncohematology Center, Hospital Oswaldo Cruz, University of Pernambuco, Recife, PE, Brazil.
authors.forename: Terezinha de Jesus
authors.initials: Tde J
authors.lastname: Marques-Salles
authors.forename: Hasmik
authors.initials: H
authors.lastname: Mkrtchyan
authors.forename: Edinalva Pereira
authors.initials: EP
authors.lastname: Leite
authors.forename: Eliane Maria
authors.initials: EM
authors.lastname: Soares-Ventura
authors.forename: Maria Tereza Cartaxo
authors.initials: MT
authors.lastname: Muniz
authors.forename: Elizangela Ferreira
authors.initials: EF
authors.lastname: Silva
authors.forename: Thomas
authors.initials: T
authors.lastname: Liehr
authors.forename: Maria Luiza Macedo
authors.initials: ML
authors.lastname: Silva
authors.forename: Neide
authors.initials: N
authors.lastname: Santos
mesh_terms: D005260:Female; D016158:Genes, p53; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007223:Infant; D007621:Karyotyping; D007947:Leukemia, Megakaryoblastic, Acute / Q000235:genetics*; D051788:Myeloid-Lymphoid Leukemia Protein / Q000235:genetics; D017253:Neurofibromatoses / Q000235:genetics*
chemical_list: C497422:KMT2A protein, human; D051788:Myeloid-Lymphoid Leukemia Protein; D011495:Histone-Lysine N-Methyltransferase