Klaus Mirjam, Haferlach Torsten, Schnittger Susanne, Kern Wolfgang, Hiddemann Wolfgang, Schoch Claudia
Department of Internal Medicine III, Laboratory for Leukemia Diagnostics, Ludwig-Maximilians-University, Marchioninistrasse 15, 81377 Munich, Germany.
Cancer Genet Cytogenet. 2004 Nov;155(1):47-56. doi: 10.1016/j.cancergencyto.2004.03.008.
In about 55% of acute myeloid leukemia (AML) cases, chromosome aberrations are detectable by cytogenetics. Close correlations between cytomorphology and cytogenetics have been reported. To determine a pattern of cytogenetic abnormalities within the French-American-British (FAB) subtypes AML M0, M1, and M2, we analyzed 48 AML M0, 179 AML M1, and 425 AML M2 and compared cytogenetic data to a cohort of 1,062 AML M3/3v, M4, M4eo, M5a/5b, M6, and M7. Cytogenetic abnormalities were significantly more frequent in AML M0 (71%) compared to M1 (49%), M2 (53%), and the total cohort (56%; P < 0.02). While +8 was the most common numeric abnormality in all FAB subtypes, +13, +14, and +11 were associated with AML M0-M2. The only recurring balanced translocation that was associated with one of these FAB subtypes was t(8;21) in M2 (12.5%) and, rarely, M1 (1.7%) (M0, 0% and M3-7, 0.09%; P=0.001). To evaluate the frequency of cytogenetically undetectable abnormalities, we performed fluorescence in situ hybridization (FISH) analyses in 273 AML M0-M2 with normal karyotype using probes for ETO, ABL, MLL, TEL, RB, P53, AML1, and BCR. In two cases we identified numerical aberrations of RB only in interphases nuclei. In seven additional cases, TEL and MLL abnormalities were found. In conclusion, t(8;21), +11, +13, and +14 are strongly associated with AML M0, M1, and M2. The FISH screening analyses identified abnormalities in an additional 3% in normal karyotypes.
在约55%的急性髓系白血病（AML）病例中，细胞遗传学检测可发现染色体畸变。已有报道称细胞形态学与细胞遗传学之间存在密切关联。为确定法国-美国-英国（FAB）亚型AML M0、M1和M2中的细胞遗传学异常模式，我们分析了48例AML M0、179例AML M1和425例AML M2，并将细胞遗传学数据与1062例AML M3/3v、M4、M4eo、M5a/5b、M6和M7的队列进行比较。与M1（49%）、M2（53%）和整个队列（56%；P<0.02）相比，AML M0中细胞遗传学异常明显更常见（71%）。虽然+8是所有FAB亚型中最常见的数字异常，但+13、+14和+11与AML M0-M2相关。与这些FAB亚型之一相关的唯一反复出现的平衡易位是M2（12.5%）中的t(8;21)，M1中很少见（1.7%）（M0为0%，M3-7为0.09%；P=0.001）。为评估细胞遗传学检测不到的异常的频率，我们使用ETO、ABL、MLL、TEL、RB、P53、AML1和BCR的探针，对273例核型正常的AML M0-M2进行了荧光原位杂交（FISH）分析。在两例中，仅在间期核中发现RB的数字畸变。在另外七例中，发现了TEL和MLL异常。总之，t(8;21)、+11、+13和+14与AML M0、M1和M2密切相关。FISH筛查分析在核型正常的病例中又发现了3%的异常。
