Geurts van Kessel A, Stellink F, van Gaal J, van de Klundert W, Siepman A, Oosten H R
Department of Human Genetics, University Hospital, Nijmegen, The Netherlands.
Cancer Genet Cytogenet. 1994 Feb;72(2):105-8. doi: 10.1016/0165-4608(94)90124-4.
Cytogenetic analysis of unstimulated bone marrow (BM) and peripheral blood (PB) cells of a patient with clinical features of atypical chronic myeloid leukemia (CML) showed t(12;22)(p13;q12) as the sole karyotypic abnormality. Subsequent fluorescence in situ hybridization (FISH) with abl- and bcr-specific cosmids as well as chromosome 12- and 22-specific DNA libraries and Southern blot analysis confirmed that in this patient t(12;22) does not constitute a cryptic Ph variant. Recently, a few very similar cases were reported by other investigations. The possible significance of this translocation as a new cytogenetic marker for nonlymphocytic leukemia is discussed.
对一名具有非典型慢性髓性白血病（CML）临床特征患者的未刺激骨髓（BM）和外周血（PB）细胞进行细胞遗传学分析，结果显示t(12;22)(p13;q12)是唯一的核型异常。随后，使用abl和bcr特异性黏粒以及12号和22号染色体特异性DNA文库进行荧光原位杂交（FISH）和Southern印迹分析证实，在该患者中t(12;22)并不构成隐匿性Ph变异体。最近，其他研究报告了一些非常相似的病例。本文讨论了这种易位作为非淋巴细胞白血病新细胞遗传学标志物的可能意义。
