title: Inversions of chromosomes 2 and 6 in mantle cell lymphoma. Cytogenetic, FISH, and molecular studies.
abstract: Inversions are infrequent events in hematological malignancies. We here report the cytogenetic, fluorescence in situ hybridization (FISH), and molecular studies of 2 patients diagnosed with mantle cell lymphoma (MCL) that showed inversions of chromosomes 2 and 6 as part of complex karyotypes. Both patients showed a cytogenetically identical inv(6)(p23q11) detected as a secondary aberration. In addition, both patients had a derivative chromosome 2 which originated by partial deletion of the short arm and a pericentric inversion with different breakpoints on the long arm: der(2)del(2)(p21)inv(2)(p21q11) and der(2)del(2)(p21)inv(2)(p21q13), respectively. The presence of t(11;14)(q13;q32) was confirmed by interphase FISH and by molecular study. Residual normal cells were found in both cases. The patients showed a different clinical evolution with a poor outcome for one case and a favorable course of the disease for the other one. The review of the literature in MCL showed a total of 9 inversions affecting different chromosomes. Considering that inversions are very infrequent events in MCL, our findings could be important for detecting genes potentially involved in development and/or progression of this aggressive non-Hodgkin lymphoma subtype.
authors.affiliation: Departamento de Genética, Instituto de Investigaciones Hematológicas Mariano R. Castex, Academia Nacional de Medicina, Pacheco de Melo 3081-1425, Buenos Aires, Argentina.
authors.forename: Estela
authors.initials: E
authors.lastname: Pedrazzini
authors.forename: Roxana
authors.initials: R
authors.lastname: Cerretini
authors.forename: María Fernanda
authors.initials: MF
authors.lastname: Noriega
authors.forename: Marina
authors.initials: M
authors.lastname: Narbaitz
authors.forename: María Fernanda
authors.initials: MF
authors.lastname: Palacios
authors.forename: Pedro
authors.initials: P
authors.lastname: Negri
authors.forename: Raquel
authors.initials: R
authors.lastname: Bengió
authors.forename: Irma
authors.initials: I
authors.lastname: Slavutsky
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D007446:Chromosome Inversion; D002889:Chromosomes, Human, Pair 2 / Q000648:ultrastructure; D002896:Chromosomes, Human, Pair 6 / Q000648:ultrastructure; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D020522:Lymphoma, Mantle-Cell / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D016133:Polymerase Chain Reaction