Berger R, Le Coniat M, Lacronique V, Daniel M T, Lessard M, Berthou C, Marynen P, Bernard O
Unité INSERM U 301 and SD 401 No. 301 CNRS, Institut de Génétique Moléculaire, Paris, France.
Leukemia. 1997 Sep;11(9):1400-3. doi: 10.1038/sj.leu.2400785.
A wide variety of abnormalities of the short arm of chromosome 12 has been reported in hematologic malignancies. The most frequent rearrangements result from t(12;21)(p13;q22) of childhood acute lymphoblastic leukemia, a translocation cryptic when leukemic cells are analyzed with chromosome banding techniques. This translocation results in a fusion of the TEL/ETV6 and AML1 genes. In this report, examples of rearrangements of 12p are presented. Study of two complex chromosome abnormalities associated with t(12;21) emphasizes the importance of using FISH in detection of such translocations. Three novel translocations involving the TEL/ETV6 gene localized on 12p13 are also reported: t(X;12)(q28;p13), t(1;12)(q21;p13), and t(9;12)(p23-24;p13). Finally, the presentation of two translocations with breakpoints located centromeric to TEL/ETV6 highlights the not uncommon involvement of genes other than TEL/ETV6 on 12p.
血液系统恶性肿瘤中已报道了多种12号染色体短臂异常。最常见的重排源于儿童急性淋巴细胞白血病的t(12;21)(p13;q22)，当用染色体显带技术分析白血病细胞时，这种易位是隐匿的。这种易位导致TEL/ETV6和AML1基因融合。在本报告中，展示了12p重排的实例。对与t(12;21)相关的两种复杂染色体异常的研究强调了使用荧光原位杂交（FISH）检测此类易位的重要性。还报道了三种涉及位于12p13的TEL/ETV6基因的新型易位：t(X;12)(q28;p13)、t(1;12)(q21;p13)和t(9;12)(p23 - 24;p13)。最后，两个断点位于TEL/ETV6着丝粒侧的易位的呈现突出了12p上除TEL/ETV6之外的基因也常受累。
