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2806例急性髓系白血病患者的细胞遗传学特征——一项全国性多中心回顾性研究

Cytogenetic profiles of 2806 patients with acute myeloid leukemia-a retrospective multicenter nationwide study.

作者信息

Byun Ja Min, Kim Young Jin, Yoon Hwi-Joong, Kim Si-Young, Kim Hee-Je, Yoon Jaeho, Min Yoo Hong, Cheong Jun-Won, Park Jinny, Lee Jae Hoon, Hong Dae Sik, Park Seong Kyu, Kim Hyeoung-Joon, Ahn Jae-Sook, Shin Ho-Jin, Chung Joo Seop, Lee Won Sik, Lee Sang Min, Park Yong, Kim Byung Soo, Lee Je-Hwan, Lee Kyoo-Hyung, Jung Chul Won, Jang Jun Ho, Min Woo-Sung, Park Tae Sung

机构信息

Department of Medicine, Kyung Hee University Graduate School, 23, Kyungheedae-ro, Dongdaemun-gu, Seoul, 130-872, Republic of Korea.

Department of Laboratory Medicine, School of Medicine, Kyung Hee University, 23, Kyungheedae-ro, Dongdaemun-gu, Seoul, 130-872, Republic of Korea.

出版信息

Ann Hematol. 2016 Aug;95(8):1223-32. doi: 10.1007/s00277-016-2691-1. Epub 2016 May 26.

DOI:10.1007/s00277-016-2691-1
PMID:27230620
Abstract

The cytogenetic and molecular data is recognized as the most valuable prognostic factor in acute myeloid leukemia (AML). Our aim was to systemically analyze the cytogenetics of Korean AML patients and to compare the cytogenetic profiles of various races to identify possible geographic heterogeneity. We retrospectively reviewed medical records of 2806 AML patients diagnosed at 11 tertiary teaching hospitals in Korea between January 2007 and December 2011. The most common recurrent chromosomal abnormality was t(8;21) (8.8 %, 238/2717), but t(15;17) showed an almost same number (8.6 %,235/2717). Among de novo AML, the most frequent aberrations were t(15;17), observed in 229 (10.7 %). The most common French-American-British (FAB) classification type was M2 (32.2 %), and recurrent cytogenetic abnormalities correlated with the FAB subtypes. Among 283 secondary AML cases, myelodysplastic syndrome was the most common predisposing factor. About 67.1 % of the secondary AML cases were associated with chromosomal aberrations, and chromosome 7 abnormalities (n = 45, 15.9 %) were most common. The incidence of FLT3 internal tandem duplication mutation was relatively low at 15 %. Our study reports certain similarities and differences in comparison to previous reports. Such discrepancies call for extensive epidemiological studies to clarify the role of genetic as well as geographic heterogeneity in the pathogenesis of AML.

摘要

细胞遗传学和分子数据被认为是急性髓系白血病(AML)中最有价值的预后因素。我们的目的是系统分析韩国AML患者的细胞遗传学,并比较不同种族的细胞遗传学谱,以确定可能存在的地理异质性。我们回顾性分析了2007年1月至2011年12月期间在韩国11家三级教学医院诊断的2806例AML患者的病历。最常见的复发性染色体异常是t(8;21)(8.8%,238/2717),但t(15;17)的数量几乎相同(8.6%,235/2717)。在初发AML中,最常见的畸变是t(15;17),共观察到229例(10.7%)。最常见的法国-美国-英国(FAB)分类类型是M2(32.2%),复发性细胞遗传学异常与FAB亚型相关。在283例继发性AML病例中,骨髓增生异常综合征是最常见的诱发因素。约67.1%的继发性AML病例与染色体畸变有关,其中7号染色体异常(n = 45,15.9%)最为常见。FLT3内部串联重复突变的发生率相对较低,为15%。我们的研究报告了与先前报告相比的某些异同。这些差异需要广泛的流行病学研究来阐明遗传因素以及地理异质性在AML发病机制中的作用。

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