Co-existence of t(6;13)(p21;q14.1) and trisomy 12 in chronic lymphocytic leukemia

Author(s)

de Oliveira, Fabio Morato ^{[1, 2]} ; de Figueiredo Pontes, Lorena Lobo ^{[1, 2]} ; Bassi, Sarah Cristina ^{[1, 2]} ; Figueiredo Dalmazzo, Leandro Felipe ^{[1, 2]} ; Falcao, Roberto Passetto ^{[1, 2]}

Affiliation

^[1] Natl Inst Sci & Technol Stem Cell & Cell Therapy, Ribeirao Preto - Brazil

^[2] Univ Sao Paulo, Sch Med Ribeirao Preto, Dept Internal Med, Div Hematol, BR-14049900 Ribeirao Preto, SP - Brazil

• Document type: Journal article
• Source: MEDICAL ONCOLOGY; v. 29, n. 2, p. 1227-1230, JUN 2012.
• Web of Science Citations: 0

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. (AU)