title: Co-existence of t(6;13)(p21;q14.1) and trisomy 12 in chronic lymphocytic leukemia.
abstract: We report a case of a 57-year-old man diagnosed with chronic lymphocytic leukemia (CLL) and presence of a rare t(6;13)(p21;q14.1) in association with an extra copy of chromosome 12. Classical cytogenetic analysis using the immunostimulatory combination of DSP30 and IL-2 showed the karyotype 47,XY,t(6;13)(p21;q14.1), +12 in 75% of the metaphase cells. Spectral karyotype analysis (SKY) confirmed the abnormality previously seen by G-banding. Additionally, interphase fluorescence in situ hybridization using an LSI CEP 12 probe performed on peripheral blood cells without any stimulant agent showed trisomy of chromosome 12 in 67% of analyzed cells (134/200). To the best of our knowledge, the association of t(6;13)(p21;q14.1) and +12 in CLL has never been described. The prognostic significance of these new findings in CLL remains to be elucidated. However, the patient has been followed up since 2009 without any therapeutic intervention and has so far remained stable.
authors.affiliation: Department of Internal Medicine, Division of Hematology, School of Medicine of Ribeirão Preto, University of São Paulo, Av. Bandeirantes, 3900, Ribeirão Preto, SP 14049-900, Brazil. morato.oliveira@yahoo.com.br
authors.forename: Fábio Morato
authors.initials: FM
authors.lastname: de Oliveira
authors.forename: Lorena Lobo
authors.initials: LL
authors.lastname: de Figueiredo Pontes
authors.forename: Sarah Cristina
authors.initials: SC
authors.lastname: Bassi
authors.forename: Leandro Felipe Figueiredo
authors.initials: LF
authors.lastname: Dalmazzo
authors.forename: Roberto Passetto
authors.initials: RP
authors.lastname: Falcão
mesh_terms: D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D014178:Translocation, Genetic / Q000235:genetics*; D014314:Trisomy / Q000235:genetics*