Cytogenetic abnormalities in de novo acute myeloid leukemia in adults: relation to morphology, age, sex and ethnicity - a single center study from Singapore.

Anoop Kumar Enjeti, Sim Leng Tien, Christina Rudduck Sivaswaren
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引用次数: 33

Abstract

Background: Cytogenetic analysis performed at diagnosis is considered to be the most valuable prognostic factor in acute myeloid leukemia (AML). Large systematic studies of cytogenetic abnormalities in AML patients from Southeast Asia are not available. The karyotypic patterns in AML patients from a single center in Singapore were studied and compared with reports from other regions of the world to identify possible geographic heterogeneity.

Methods: Analysis was performed on 501 consecutive de novo AML patients diagnosed according to the FAB criteria in the Singapore General Hospital. The cytogenetic findings were analyzed for possible associations between karyotypic pattern and the age, gender, ethnicity as well as morphological (FAB) subtypes.

Results: A total of 454 patients were studied of which 275(61%) had abnormal cytogenetics(median age 48 years). The t(15;17) and trisomy 8 were the most frequent karyotypic abnormalities - seen in 52(11%) and 33(7.3%) cases, respectively. Inv(lf) and t(16;16) were uncommon, seen only in five (1.1%) cases. The abnormalities del 5/5q and del 7/7q were seen in 30(6.6%) and 32(7%) of the cases. Complex karyotypes were seen in 78(17%) of the cases.Recurrent cytogenetic abnormalities correlated with the FAB subtypes. In all, 21 novel cytogenetic abnormalities were observed.

Conclusions: Certain differences such as the age at presentation and frequency of recurrent balanced translocations were noted in comparison to previous reports. These point to the need for extensive epidemiological studies to clarify the role of genetic as well as geographic heterogeneity in the pathogenesis of AML.

成人新生急性髓性白血病的细胞遗传学异常:与形态学、年龄、性别和种族的关系——来自新加坡的一项单中心研究
背景:诊断时进行的细胞遗传学分析被认为是急性髓性白血病(AML)最有价值的预后因素。东南亚AML患者细胞遗传学异常的大型系统研究尚不存在。研究了来自新加坡单一中心的AML患者的核型模式,并与来自世界其他地区的报告进行了比较,以确定可能的地理异质性。方法:对新加坡综合医院501例符合FAB标准的急性髓系白血病(AML)患者进行分析。细胞遗传学结果分析了核型模式与年龄、性别、种族以及形态(FAB)亚型之间可能存在的关联。结果:共研究了454例患者,其中275例(61%)细胞遗传学异常(中位年龄48岁)。t(15;17)和8三体是最常见的核型异常,分别有52例(11%)和33例(7.3%)。Inv(lf)和t(16;16)不常见,仅5例(1.1%)。del 5/5q异常30例(6.6%),del 7/7q异常32例(7%)。复杂核型78例(17%)。复发性细胞遗传学异常与FAB亚型相关。总共观察到21例新的细胞遗传学异常。结论:与以前的报道相比,某些差异,如出现的年龄和复发性平衡易位的频率。这些表明需要进行广泛的流行病学研究,以阐明遗传和地理异质性在AML发病机制中的作用。
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