Ahmad Firoz, Dalvi Rupa, Das Bibhu Ranjan, Mandava Swarna
Research and Development, SRL Ranbaxy Ltd., 17th Street, MIDC, Andheri (E), Mumbai 400093, India.
Cancer Detect Prev. 2008;32(2):168-77. doi: 10.1016/j.cdp.2008.05.007. Epub 2008 Jul 18.
Acute myeloid leukemia (AML) is a heterogeneous disease with regard to morphology, immunophenotype, and genetic rearrangements. Multiple recurrent chromosomal aberrations have been identified by conventional cytogenetic analysis, which is now widely recognized as one of the most important diagnostic and prognostic determinants in AML.
Conventional cytogenetic analysis was done on 200 de novo AML subjects.
Of these, 176 (88%) were successfully karyotyped and 24 (12%) showed culture failure. Among the 176 subjects, 101 (57.4%) were abnormal and 75 (42.6%) showed an apparently normal karyotype. The various aberrations observed were t(8;21)(q22;q22) (5.2%); t(15;17) (q22;q11-21) (9%); t(9;22)(q34;q11)(1.7%); t(14;17)(q32;q11.2)(0.5%); inv(16)(p13;q22)(1.7%); 11q23 rearrangements (4%); monosomy 7 (2.2%) and 22 (1.1%); deletion of 9q (q22q34) (5.1%), 5q (q13q33) (0.5%) and 13q (q13q31) (0.5%); common trisomies like +8 (5.6%), +16 (1.7%), +22 (1.1%), +21 (0.5%), +13 (0.5%), +11 (0.5%), +3 (0.5%); hyperdiploidy (3.4%); hypodiploidy (1.1%); complex karyotype (4%); and other structural abnormalities (4.5%). Apart from these, three novel chromosomal abnormalities viz. t(8;18), t(7;14), t(13;15) were observed in the current study population.
This study confirms that the incidence of chromosomal abnormalities varies considerably. Comparatively, the incidence t(15;17), and del9q is higher, while that of -5/del5q, -7/del7q and inv (16) were lower in our population. Similarly, the frequency of other recurrent FAB associated abnormalities viz. 11qabn was comparable to previous reports. Furthermore, ongoing cytogenetic studies are warranted in larger groups of AML cases to identify newly acquired chromosomal aberrations that may aid in cloning novel genes involved in the neoplastic process, ultimately helping in the development of targeted therapeutic drugs.
急性髓系白血病（AML）在形态学、免疫表型和基因重排方面是一种异质性疾病。通过传统细胞遗传学分析已鉴定出多种复发性染色体畸变，目前其被广泛认为是AML最重要的诊断和预后决定因素之一。
对200例初发AML患者进行传统细胞遗传学分析。
其中，176例（88%）成功进行了核型分析，24例（12%）培养失败。在176例患者中，101例（57.4%）异常，75例（42.6%）核型明显正常。观察到的各种畸变包括t(8;21)(q22;q22)（5.2%）；t(15;17)(q22;q11 - 21)（9%）；t(9;22)(q34;q11)（1.7%）；t(14;17)(q32;q11.2)（0.5%）；inv(16)(p13;q22)（1.7%）；11q23重排（4%）；7号染色体单体（2.2%）和22号染色体单体（1.1%）；9q（q22q34）缺失（5.1%）、5q（q13q33）缺失（0.5%）和13q（q13q31）缺失（0.5%）；常见三体如+8（5.6%）、+16（1.7%）、+22（1.1%）、+21（0.5%）、+13（0.5%）、+11（0.5%）、+3（0.5%）；超二倍体（3.4%）；亚二倍体（1.1%）；复杂核型（4%）；以及其他结构异常（4.5%）。除此之外，在本研究人群中观察到三种新的染色体异常，即t(8;18)、t(7;14)、t(13;15)。
本研究证实染色体异常的发生率差异很大。相对而言，t(15;17)和9q缺失的发生率较高，而在我们的人群中-5/del5q、-7/del7q和inv(16)的发生率较低。同样，其他与FAB相关的复发性异常即11q异常的频率与先前报道相当。此外，有必要对更大组的AML病例进行持续的细胞遗传学研究，以鉴定新出现的染色体畸变，这可能有助于克隆参与肿瘤形成过程的新基因，最终有助于开发靶向治疗药物。
