Su X Y, Cao Q, He K L
Shanghai Institute of Hematology, Rui-Jin Hospital, Shanghai 200025.
Zhonghua Yi Xue Za Zhi. 1999 Jan;79(1):34-7.
To study the genomic abnormality underlying the blast crisis of chronic myeloid leukemia(CML).
15 CML patients in blast crisis (BC), 3 in accelerated phase (AP) and 20 in chronic phase (CP) were analyzed by conventional cytogentics, comparative genomic hybridization (CGH) and dual color chromosomal painting.
Philadelphia (Ph) chromosome was identified in every case studied. Only 5 among 20 CP patients had additional abnormalities while 12 out of 14 patients with disease progression (BC + AP) showed extra numerical and/or structural chromosmal aberrations. Cytogenetically, the most common chromosome gains during BC and AP were double or triple Ph chromosome(5/14), trisomy 8(5/14), trisomy 7(1/14) and 17 (1/14). Three cases showed the same region being involved in translocations t(1;17)(q12-21;q10), t(1;10) (q12-21;q26) and t(1;11)(q12-21;p15). CGH analysis detected genetic imbalances in 8 cases. In one case, a very complex chromosmal translocation del(3), del(6)(q13-21), der(6)t(17;3;6), der(17)t(6;17) was characterized by chromosomal painting.
We find that the combined use of CGH, chromosomal painting, and classic cytogenetic analysis allows a better evaluation of the genomic aberration involved in CML blastic transformation, and offers new directions for its further molecular investigation.
研究慢性粒细胞白血病（CML）急变期的基因组异常。
采用传统细胞遗传学、比较基因组杂交（CGH）和双色染色体描绘技术，对15例CML急变期（BC）患者、3例加速期（AP）患者和20例慢性期（CP）患者进行分析。
在所研究的每例患者中均检测到费城（Ph）染色体。20例CP患者中仅有5例存在其他异常，而14例疾病进展患者（BC + AP）中有12例出现额外的数目和/或结构染色体畸变。细胞遗传学分析显示，BC和AP期最常见的染色体增加为双Ph或三Ph染色体（5/14）、8号染色体三体（5/14）、7号染色体三体（1/14）和17号染色体三体（1/14）。3例患者显示相同区域发生易位t(1;17)(q12 - 21;q10)、t(1;10)(q12 - 21;q26)和t(1;11)(q12 - 21;p15)。CGH分析在8例患者中检测到基因失衡。在1例患者中，通过染色体描绘鉴定出一种非常复杂的染色体易位del(3)、del(6)(q13 - 21)、der(6)t(17;3;6)、der(17)t(6;17)。
我们发现，联合使用CGH、染色体描绘和经典细胞遗传学分析能够更好地评估CML急变过程中涉及的基因组畸变，并为其进一步的分子研究提供新方向。
