Hagemeijer A, Bartram C R, Smit E M, van Agthoven A J, Bootsma D
Cancer Genet Cytogenet. 1984 Sep;13(1):1-16. doi: 10.1016/0165-4608(84)90083-9.
Six variants of the Ph1 translocation are described. The clinical diagnoses were chronic myeloid leukemia (CML) in 5 cases (patients 1-5) and acute lymphocytic leukemia (ALL) in patient 6. Three Ph1 variants were clear complex translocations, involving chromosomes #9, #22, and a third chromosome, i.e., #16, #11, or #14. The other three Ph1 variants appeared as "simple" translocations between chromosome #22 and chromosome #19, #4, or #12 when G- or Q-banding were used. When studied with high resolution R-banding, a small deletion of the terminal part of one chromosome #9 was visible, strongly suggesting that these variants were also complex translocations, i.e., t(9;19;22)(q34;p13;q11),t(4;9;22) (p16;q34;q11), and t(9;12;22)(q34;p13;q11). In the latter two cases, using in situ hybridization techniques, we demonstrated the presence of c-abl sequences on the Ph1 chromosome. This proved the involvement of 9q34 in these two variants. Our proposal is that most, and probably all, variants of Ph1 are complex translocations involving part of 9q34 and that the conjunction of a specific region of 22q11 with a specific segment of 9q34 (carrying the c-abl protooncogene) is essential for the development of Ph1 + CML.
本文描述了Ph1易位的六种变体。临床诊断结果为：5例（患者1 - 5）为慢性粒细胞白血病（CML），患者6为急性淋巴细胞白血病（ALL）。三种Ph1变体为明确的复杂易位，涉及9号、22号染色体以及第三条染色体，即16号、11号或14号染色体。当使用G显带或Q显带时，其他三种Ph1变体表现为22号染色体与19号、4号或12号染色体之间的“简单”易位。当采用高分辨率R显带进行研究时，可见一条9号染色体末端部分存在小缺失，强烈提示这些变体也是复杂易位，即t(9;19;22)(q34;p13;q11)、t(4;9;22) (p16;q34;q11)和t(9;12;22)(q34;p13;q11)。在后两例中，我们采用原位杂交技术，证实了Ph1染色体上存在c - abl序列。这证明了9q34参与了这两种变体。我们的推测是，Ph1的大多数变体，可能是所有变体，都是涉及9q34部分的复杂易位，并且22q11的特定区域与9q34的特定片段（携带c - abl原癌基因）的结合对于Ph1 + CML的发生发展至关重要。
