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.
Med Oncol. 2012 Jun;29(2):1227-30. doi: 10.1007/s12032-011-9957-1. Epub 2011 Apr 29.
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.
我们报告了一例 57 岁男性慢性淋巴细胞白血病（CLL）患者，其存在罕见的 t(6;13)(p21;q14.1)易位，同时伴有 12 号染色体的额外拷贝。使用 DSP30 和 IL-2 的免疫刺激组合进行经典细胞遗传学分析显示，75%的中期细胞中存在核型 47,XY,t(6;13)(p21;q14.1), +12。光谱核型分析（SKY）证实了 G 带所见到的异常。此外，在没有任何刺激剂的情况下，使用外周血细胞进行 LSI CEP 12 探针的间期荧光原位杂交显示，67%的分析细胞（134/200）存在 12 号染色体三体。据我们所知，CLL 中 t(6;13)(p21;q14.1)和 +12 的关联从未被描述过。这些新发现对 CLL 的预后意义仍有待阐明。然而，该患者自 2009 年以来一直未接受任何治疗干预，并且迄今为止一直保持稳定。
