title: Concurrent presence of inv(14)(q11q32) and t(4;11)(q21;q23) in pre-B acute lymphoblastic leukemia.
abstract: The inv(14)(q11q32) is a non-random chromosomal aberration which has been associated with a variety of T-cell malignancies. We have studied a case of inv(14)(q11q32) that is unique in several respects. First, the inversion, which is expressed at the mRNA level, occurred in the context of a pre-B acute lymphoblastic leukemia (ALL) as opposed to a T-cell malignancy. Second, cloning and sequencing of the inversion revealed that it resulted from a fusion between an immunoglobulin heavy chain variable (V) segment and a T-cell receptor delta diversity (D) segment. In addition, the patient had a second chromosomal abnormality at diagnosis, a t(4;11)(q21;q23) which disrupted the MLL gene. The fact that there were two distinct chromosomal abnormalities at diagnosis enabled us to address the question of leukemic clonal evolution during the course of this patient's disease. We present evidence suggesting that the t(4;11)(q21;q23) occurred first, with the inv(14)(q11q32) occurring as a second event.
authors.affiliation: Department of Pediatrics, Roswell Park Cancer Institute, Buffalo, NY 14263, USA.
authors.forename: D S
authors.initials: DS
authors.lastname: Chervinsky
authors.forename: M
authors.initials: M
authors.lastname: Grossi
authors.forename: S
authors.initials: S
authors.lastname: Kakati
authors.forename: A W
authors.initials: AW
authors.lastname: Block
authors.forename: P D
authors.initials: PD
authors.lastname: Aplan
mesh_terms: D000208:Acute Disease; D001483:Base Sequence; D002648:Child; D002678:Chimera; D002871:Chromosome Banding; D007446:Chromosome Inversion; D002880:Chromosomes, Human, Pair 11; D002883:Chromosomes, Human, Pair 14; D002894:Chromosomes, Human, Pair 4; D004252:DNA Mutational Analysis; D015326:Gene Rearrangement, B-Lymphocyte, Heavy Chain; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D015452:Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / Q000097:blood / Q000235:genetics*; D016692:Receptors, Antigen, T-Cell, gamma-delta / Q000235:genetics; D014178:Translocation, Genetic
chemical_list: D016692:Receptors, Antigen, T-Cell, gamma-delta