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目的:本研究旨在对急性髓系白血病中MLL基因高表达患者的临床表现和细胞分子遗传学特征进行探索与分析。方法:回顾性分析2010年1月至2016年8月来我院就诊的急性髓系白血病患者,发现2例患者MLL高表达。对这两例患者的临床和细胞分子遗传学特征进行收集和深入分析。结果:2例患者都是中年,分别诊断为FAB分型的M5b和M2a。该两例患者均具有复杂核型,并且都含有11号染色体异常,其中1例患者被RT-PCR确证为MLL-PTD(外显子2-9),另外1例为非MLL-PTD患者,经Cytoscan HD进一步分析发现:11q扩增和缺失同时存在,3p、3q、4q、5q、7q、8q、10p、10q、12p和18q都有区域缺失,4p有扩增。结论:染色体异常-5/5q-,-7/7q-和高度复杂核型同时存在时,会加速疾病不良预后。因此,尚需要进一步深入探讨遗传学异常是如何影响疾病进程。
OBJECTIVE: The purpose of this study was to explore and analyze the clinical manifestations and cellular molecular genetic features of patients with MLL gene overexpression in acute myeloid leukemia. Methods: A retrospective analysis of patients with acute myeloid leukemia who came to our hospital from January 2010 to August 2016 showed that MLL was highly expressed in 2 patients. The clinical and cytogenetic characteristics of these two patients were collected and analyzed in depth. Results: Both patients were middle-aged and were diagnosed as FAB-typed M5b and M2a respectively. Both patients had complex karyotypes and all had chromosome 11 anomalies. One of the patients was confirmed by RT-PCR as MLL-PTD (exons 2-9) and the other 1 as non-MLL-PTD, Further analysis by Cytoscan HD showed that both 11q amplification and deletion existed at the same time. There was a region deletion in 3p, 3q, 4q, 5q, 7q, 8q, 10p, 10q, 12p and 18q. Conclusion: The combination of chromosomal abnormalities -5 / 5q -, - 7 / 7q- and highly complex karyotype can accelerate the poor prognosis of the disease. Therefore, there is still a need to further explore how genetic abnormalities affect the disease process.