title: Secondary abnormalities involving 1q or 13q and poor outcome in high stage Burkitt leukemia/lymphoma cases with 8q24 rearrangement at diagnosis.
abstract: Classical Burkitt lymphoma/leukemia (BL/L) presenting L3 morphology is found in 1% of childhood ALL. Recently, it has been described that secondary abnormalities could influence the prognosis of these patients. However, little information is available on these cytogenetic abnormalities and their prognostic importance in BL/L. Here, we report four new childhood BL/L cases associated with duplication within 1q or 13q, which exhibited a very unfavorable therapeutic response. We performed both classical and molecular cytogenetic analysis by multicolor chromosome banding of the secondary abnormalities involving the long arms of chromosome 1 or 13. These patients were previously treated with BFM-90 protocol. All of them died during or after the initial treatment. Here, for the first time, the exact breakpoints of the derivative chromosomes involved were determined at the cytogenetic level as 1q21 and 13q33 each.
authors.affiliation: Bone Marrow Unit, Department of Cytogenetics of The National Center for Bone Marrow Transplantation (CEMO), National Cancer Institute (INCA), Praça da Cruz Vermelha, 23-6º floor, Rio de Janeiro, RJ, Brazil.
authors.forename: Mariana Tavares
authors.initials: MT
authors.lastname: de Souza
authors.affiliation: Institute of Human Genetics, Jena University, Jena, Germany.
authors.forename: Hasmik
authors.initials: H
authors.lastname: Mkrtchyan
authors.affiliation: Department of Molecular Biology of The National Center for Bone Marrow Transplantation (CEMO), National Cancer Institute (INCA), Rio de Janeiro, RJ, Brazil.
authors.forename: Rocio
authors.initials: R
authors.lastname: Hassan
authors.affiliation: Bone Marrow Unit, Department of Cytogenetics of The National Center for Bone Marrow Transplantation (CEMO), National Cancer Institute (INCA), Praça da Cruz Vermelha, 23-6º floor, Rio de Janeiro, RJ, Brazil.
authors.forename: Daniela Ribeiro
authors.initials: DR
authors.lastname: Ney-Garcia
authors.affiliation: Institute of Pediatrics Martagão Gesteira, Federal University of Rio de Janeiro (IPPMG -UFRJ), Rio de Janeiro, RJ, Brazil.
authors.forename: Alice Maria Boulhosa
authors.initials: AMB
authors.lastname: de Azevedo
authors.affiliation: Institute of Pediatrics Martagão Gesteira, Federal University of Rio de Janeiro (IPPMG -UFRJ), Rio de Janeiro, RJ, Brazil.
authors.forename: Elaine Sobral
authors.initials: ES
authors.lastname: da Costa
authors.affiliation: Bone Marrow Unit, Department of Cytogenetics of The National Center for Bone Marrow Transplantation (CEMO), National Cancer Institute (INCA), Praça da Cruz Vermelha, 23-6º floor, Rio de Janeiro, RJ, Brazil.
authors.forename: Amanda Faria
authors.initials: AF
authors.lastname: de Figueiredo
authors.affiliation: Institute of Human Genetics, Jena University, Jena, Germany.
authors.forename: Thomas
authors.initials: T
authors.lastname: Liehr
authors.affiliation: Bone Marrow Unit, Department of Cytogenetics of The National Center for Bone Marrow Transplantation (CEMO), National Cancer Institute (INCA), Praça da Cruz Vermelha, 23-6º floor, Rio de Janeiro, RJ, Brazil.
authors.forename: Eliana
authors.initials: E
authors.lastname: Abdelhay
authors.affiliation: Bone Marrow Unit, Department of Cytogenetics of The National Center for Bone Marrow Transplantation (CEMO), National Cancer Institute (INCA), Praça da Cruz Vermelha, 23-6º floor, Rio de Janeiro, RJ, Brazil. luizamacedo@inca.gov.br.
authors.forename: Maria Luiza Macedo
authors.initials: MLM
authors.lastname: Silva
mesh_terms: D002051:Burkitt Lymphoma / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D056905:Chromosome Breakpoints; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D020440:Gene Duplication; D015321:Gene Rearrangement; D006801:Humans; D008297:Male; D011379:Prognosis; D012720:Severity of Illness Index