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）
发布时间：2018-11-28 18:10
【摘要】：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。
[Abstract]:Objective: to explore and analyze the clinical manifestations and cytogenetic characteristics of patients with high expression of MLL gene in acute myeloid leukemia. Methods: the high expression of MLL was found in 2 patients with acute myeloid leukemia from January 2010 to August 2016. The clinical and cytogenetic characteristics of these two patients were collected and analyzed. Results: two cases of middle age were diagnosed as M 5b and M 2 a by FAB classification, respectively. Both patients had complex karyotypes and both had chromosome 11 abnormalities. One patient was identified as MLL-PTD (exon 2-9) by RT-PCR and the other was a non-MLL-PTD patient. Further analysis by Cytoscan HD showed that both 11q amplification and deletion existed simultaneously, and 4p was amplified. Conclusion: chromosomal abnormalities-5 / 5q-7 / 7q- and highly complex karyotypes can accelerate the poor prognosis of the disease. Therefore, it is necessary to further explore how genetic abnormalities affect disease progression.
【作者单位】： 中国医学科学院北京协和医学院血液学研究所血液病医院;
【基金】：国家自然科学基金项目(81500134)
【分类号】：R733.71
本文编号：2363824
[Abstract]:Objective: to explore and analyze the clinical manifestations and cytogenetic characteristics of patients with high expression of MLL gene in acute myeloid leukemia. Methods: the high expression of MLL was found in 2 patients with acute myeloid leukemia from January 2010 to August 2016. The clinical and cytogenetic characteristics of these two patients were collected and analyzed. Results: two cases of middle age were diagnosed as M 5b and M 2 a by FAB classification, respectively. Both patients had complex karyotypes and both had chromosome 11 abnormalities. One patient was identified as MLL-PTD (exon 2-9) by RT-PCR and the other was a non-MLL-PTD patient. Further analysis by Cytoscan HD showed that both 11q amplification and deletion existed simultaneously, and 4p was amplified. Conclusion: chromosomal abnormalities-5 / 5q-7 / 7q- and highly complex karyotypes can accelerate the poor prognosis of the disease. Therefore, it is necessary to further explore how genetic abnormalities affect disease progression.
【作者单位】： 中国医学科学院北京协和医学院血液学研究所血液病医院;
【基金】：国家自然科学基金项目(81500134)
【分类号】：R733.71
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