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15号染色体缺失作为急性髓系白血病的唯一异常:三例报告及文献复习

Deletion 15q as the sole abnormality in acute myeloid leukemia: report of three cases and review of the literature.

作者信息

Lu Gary, Yin C Cameron, Medeiros L Jeffrey, Abruzzo Lynne V

机构信息

Department of Hematopathology, Box 350, The University of Texas M.D. Anderson Cancer Center, 1515 Holcombe Blvd., Houston, TX 77030, USA.

出版信息

Cancer Genet Cytogenet. 2009 Jan 15;188(2):118-23. doi: 10.1016/j.cancergencyto.2008.09.006.

DOI:10.1016/j.cancergencyto.2008.09.006
PMID:19100517
Abstract

Deletions within the long arm of chromosome 15, a recurrent abnormality in myeloid malignancies, have been reported previously as a sole abnormality in only eight cases of acute myeloid leukemia (AML). We describe three new cases of AML with this abnormality, all adult women (age, 41-66 years). Two cases were acute myelomonocytic leukemia (FAB AML-M4), and one was acute myeloblastic leukemia with maturation (FAB AML-M2). The deletion was identified at initial diagnosis in one patient and at relapse in the other two. Although all received aggressive therapy, their survival was short. Taken together with the eight previously reported cases, we conclude that deletions in chromosome 15 are associated with AML, both in cases that arise de novo or in the setting of a myeloproliferative disorder or myelodysplastic syndrome. These cases often show features of myelomonocytic or monocytic differentiation. The prognosis is poor, with survival similar to other AML cases with unfavorable cytogenetic changes.

摘要

15号染色体长臂缺失是髓系恶性肿瘤中一种常见的异常情况,此前仅有8例急性髓系白血病(AML)报告其为唯一异常。我们描述了3例具有这种异常的AML新病例,均为成年女性(年龄41 - 66岁)。2例为急性粒单核细胞白血病(FAB AML - M4),1例为急性粒细胞白血病伴成熟(FAB AML - M2)。1例患者在初诊时发现缺失,另外2例在复发时发现。尽管所有患者均接受了积极治疗,但生存期较短。结合之前报告的8例病例,我们得出结论,15号染色体缺失与AML相关,无论是原发性病例,还是在骨髓增殖性疾病或骨髓增生异常综合征背景下发生的病例。这些病例常表现出粒单核细胞或单核细胞分化特征。预后较差,生存期与其他具有不良细胞遗传学改变的AML病例相似。

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引用本文的文献

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Trisomy 11 as an isolated abnormality in acute myeloid leukemia is associated with unfavorable prognosis but not with an NPM1 or KIT mutation.11号染色体三体作为急性髓系白血病中的一种孤立异常与不良预后相关,但与核仁磷酸蛋白1(NPM1)或原癌基因c-KIT(KIT)突变无关。
Int J Clin Exp Pathol. 2011 Apr;4(4):371-7. Epub 2011 Apr 25.
2
del(15q) is a recurrent minor-route cytogenetic abnormality in the clonal evolution of chronic myelogenous leukemia.15号染色体长臂缺失(del(15q))是慢性髓性白血病克隆进化过程中一种常见的次要细胞遗传学异常。
Cancer Genet Cytogenet. 2009 Jul;192(1):18-23. doi: 10.1016/j.cancergencyto.2009.02.017.