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

被引：0
作者：
Fábio Morato de Oliveira
Lorena Lobo de Figueiredo Pontes
Sarah Cristina Bassi
Leandro Felipe Figueiredo Dalmazzo
Roberto Passetto Falcão
机构：
[1] University of São Paulo,Department of Internal Medicine, Division of Hematology, School of Medicine of Ribeirão Preto
[2] National Institute of Science and Technology in Stem Cell and Cell Therapy,undefined
来源：
Medical Oncology | 2012年 / 29卷
关键词：
Chronic lymphocytic leukemia; t(613)(p21;q14.1); Spectral karyotyping (SKY);
D O I：
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学科分类号：
摘要：
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.
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页码：1227 / 1230
页数：3
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