两例MLL基因高表达的AML患者临床特征和细胞分子遗传学分析（英文）

Clinical and Cytogenetic Characteristics of Two AML Patients with High-level MLL Expression

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： To investigate the clinical and cytogenetic characteristics of high-level mixed-lineage leukaemia （MLL） gene amplification in patients with acute myeloid leukemia （AML）. Methods： The clinical and cytogenetic data of 2 AML patients with high-level MLL amplification from January 2010 to August 2016 were analyzed retrospectively. Results： The two AML cases were in middle-aged population. They were diagnosed as FAB subtype MSb and M2a respectively. Both of them had complex karyotypes with the aberrations of chromosome 11. One case was confirmed as MLL-PTD involving exons 2 - 9 by RT-PCR and sequencing. The other case without MLL-PTD was further analyzed by CytoScan HD analysis. The CMA results showed partial gain of 11 q accompanied with partial loss in 11 q, deletion of regions in 3p, 3q, 4q, 5q, 7q, 8q, 10p, 10q, 12p and 18q, as well as gain of 4p. Conclusion： The co- existence of -5/5q -, -7/7q - and highly complex karyotype may accelerate the poor prognosis. Thus how those cvtogenetic abnormalities influencing the disease orognosis need to be further explored.