Objective To investigate the characteristics in cytogenetics and molecular genetics of chronic myeloid rnleukemia ( CML) and the clinical signif'icance of CML. Methods 196 patients with CML were selected. Bone marrow rndirect method and /or 24 h culture without phytohaemagelutimin were used to prepare the chromosomes and kaiyotype a -rnnalysis was performed with R - banding techniques. Fluorescence in situ hybridization ( FISH) with Dual colour/dual furnsion or extra - signal ( ES) DNA prohe was used to detect BCR - ABL fusion gene in patients with CML. Results The rnpatients were divided into chronic phase and accelerated phase /blast crisis. The cytogenetic results showed that the pro -rnportion of additional chromosome and variant translocation was 9/166 ( 5. 4％ ) and 7/166 (4. 2％ ) in chronic phrase ,rnand 19/30 (63. 3％ ) and 3/30 ( 10. 0％ ) in accelerated phase/blast crisis. Among the 196 cases, 179 cases (91. 3％ rn) were Ph positive in which classic translocation was found in 169 cases ( 94. 4％ ) , variant translocation in 10 cases rn(5.6％ ) and the most common numerical abnormalities were double Ph , +8, i (17q) and -Y. By molecular genetic rnanalysis , 68 cases underwent FISH determination and were BCR - ABL positive ( including 10 cases of variant translocarntion, 11 cases with Ph negative chromosome and 6 cases with kaiyotype determination failure ) , in which 10 cases rn( 14. 7％ ) were der ( 9) deletions including 1 case with chromosome and kaiyotype determination failure . The proportion rnwas 8/55 ( 14. 5％ ) and 2/13 ( 15. 4％ ) in chronic phase group and accelerated/blast crisis group , respectively. Of the rn68 cases . there were 41 cases of classic translocation , 10 cases of variant translocation , and the proportion of der (9) dernletions in classic translocation and vanant translocation was 5/41 ( 12. 2％ ) and 4/10 ( 40％ ) , respectively. Conclusion rn Compared to chronic phase , the incidences of additional chromosome and variant translocation are much higher in ac -rncelerated phase/blast crisis. Conventional cytogenetic analysis is helpful to the diagnosis of CML and analysis of the pro -gress. On the basis of conventional cytogenetic analysis , FISH analysis technology can significantly promote the diagnosis rnrate and the accuracy in detection of chromosomal ahnormalities , and is effective in the detection of der (9) deletions.%@@ 1 文献来源rnDunne C, Burke JP, Morrow M, et al.Effect of margin status on local recurrence after breast conser-vation and radiation therapy for ductal carcinoma in situ[J].J Clin Oncol, 2009, 28 (10) : 1615-1620.
展开▼
