title: A der(11)t(4;11)(q21;p15) in a T-ALL/LBL patient.
abstract: Translocation t(4;11)(q21;p15) is a rare recurrent change associated to T-cell acute leukemia. In most cases, this alteration appears as the only abnormality or as part of a simple karyotype. In this report, we present the first case of T acute lymphoblastic leukemia/lymphoma (T-ALL/LBL) with the unbalanced translocation der(11)t(4;11)(q21;p15) as part of a very complex karyotype with multiple chromosome abnormalities, most of them not previously described in the literature. FISH (fluorescence in situ hybridization) and spectral karyotype (HiSKY) analysis confirmed the presence of complex alterations. The patient, a 16-year-old male, showed poor response to treatment and short survival (11 months). A detailed review of previously reported cases with t(4;11)(q21;p15) is also provided. The description of this type of alterations may contribute to the identification of new molecular mechanism associated to neoplastic development.
authors.affiliation: Laboratorio de Genética de Neoplasias Linfoides, Instituto de Medicina Experimental, CONICET-Academia Nacional de Medicina, Buenos Aires, Argentina.
authors.forename: Sandra
authors.initials: S
authors.lastname: Colli
authors.affiliation: Centro Nacional de Genética Médica, Buenos Aires, Argentina.
authors.forename: Lilian
authors.initials: L
authors.lastname: Furforo
authors.affiliation: Hospital de Alta Complejidad "Presidente Juan Domingo Perón", Formosa, Argentina.
authors.forename: Eduardo
authors.initials: E
authors.lastname: Rojo Pisarello
authors.affiliation: Hospital de Alta Complejidad "Presidente Juan Domingo Perón", Formosa, Argentina.
authors.forename: Marcela
authors.initials: M
authors.lastname: Maidana
authors.affiliation: Consultorio de Hematopatología, La Plata, Argentina.
authors.forename: Carlos
authors.initials: C
authors.lastname: Martín
authors.affiliation: Hospital de Alta Complejidad "Presidente Juan Domingo Perón", Formosa, Argentina.
authors.forename: Javier
authors.initials: J
authors.lastname: Bordone
authors.affiliation: Laboratorio de Genética de Neoplasias Linfoides, Instituto de Medicina Experimental, CONICET-Academia Nacional de Medicina, Buenos Aires, Argentina. Electronic address: islavutsky@hematologia.anm.edu.ar.
authors.forename: Irma
authors.initials: I
authors.lastname: Slavutsky
mesh_terms: D000293:Adolescent; D002880:Chromosomes, Human, Pair 11; D002894:Chromosomes, Human, Pair 4; D003582:Cytogenetics / Q000379:methods; D006801:Humans; D008297:Male; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D014178:Translocation, Genetic
keywords: FISH; T-cell acute leukemia/lymphoma; cytogenetics; spectral karyotype