Bernstein R, Bagg A, Pinto M, Lewis D, Mendelow B
Blood. 1986 Sep;68(3):652-7.
Two patients with acute blastic transformation of chronic myeloid leukemia (CML) associated with strikingly elevated platelet counts showed abnormalities of chromosome 3q in addition to the standard Philadelphia (Ph1) chromosome translocation. The first patient had an inversion of chromosome 3 (q21q26) cytologically identical to an inversion 3 previously reported in de novo acute megakaryoblastic leukemia, and the second patient showed a translocation between chromosome 3q and the chromosome 9 homologue not involved in the Ph1 translocation, [t(3;9)(q21;q34)]. Previous studies had incriminated either 3q21 or 3q26 as the locus for a regulatory thrombopoietic gene, but the current study suggests that 3q21 is the relevant site.
两名慢性髓性白血病（CML）急性原始细胞转化患者，血小板计数显著升高，除了标准的费城（Ph1）染色体易位外，还出现了3号染色体长臂异常。首例患者的3号染色体发生倒位（q21q26），细胞学特征与先前报道的原发性急性巨核细胞白血病中的3号染色体倒位相同；第二例患者显示3号染色体长臂与未参与Ph1易位的9号染色体同源物之间发生易位，即[t(3;9)(q21;q34)]。既往研究认为3号染色体长臂21区或26区是调节血小板生成基因的位点，但目前研究表明3号染色体长臂21区才是相关位点。
