[Clinical and Cytogenetical Characteristics in Acute Myeloid Leukemia with Myelodysplasia-Related Changes]

Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2021 Dec;29(6):1757-1762. doi: 10.19746/j.cnki.issn.1009-2137.2021.06.011.
[Article in Chinese]

Abstract

Objective: To explore the clinical and cytogenetic characteristics of acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) based on morphology define.

Methods: A total of 180 newly diagnosed acute myeloid leukemia (AML) patients were enrolled and retrospectively analyzed, and marrow cell morphology of 126 patients were re-evaluated. The clinical and cytogenetic characteristics, including ages, sex, WBC count, HGB level, PLT count, blasts percentage, abnormal karyotype detection rate of the patients in AML with multilineage dysplasia (AML-MRC-1), secondary AML from myelodysplastic/ myeloproliferative neoplasms (MDS/MPN) (AML-MRC-2), and AML not otherwise specified (AML-NOS) groups were investigated.

Results: There was no significant differences between the patients in three groups in terms of sex, age and platelet count (P=0.898, P=0.365, P=0.853), but AML-MRC-2 group (73.2%) was higher than AML-MRC-1 (60.0%) and AML-NOS (56.4%) in the percentages of patients over 60 years old (P=0.228); there were statistically significant differences on WBC count, HGB level, and blasts percentage (P=0.000, P=0.022, P=0.000, AML-MRC-2<AML-MRC-1<AML-NOS). Abnormal karyotypes rate were 59.2% in AML-MRC patients, among which complex karyotypes and myelodysplasia-related cytogenetic abnormalities accounted for 49.3%, and 5q- was the most common (28.2%), followed by 7q-/-7 (19.1%), 17p-/-17 (14.1%), +8 (14.1%), and 20q- (12.7%). Cytogenetic abnormalities rate were compared between the patients in the three groups, the result showed that AML-MRC-2 group (73.2%) was higher than AML-MRC-1 group (40.0%) and AML-NOS group (25.4%) (P=0.000). Complex karyotypes and myelodysplasia-related abnormalities were the main abnormalities in AML-MRC-2 and AML-MRC-1 group, the percentages of complex karyotypes of the patients in the two groups showed statistically significant (41.5% vs 16.7%, P=0.026), while the percentages of other myelodysplasia-related abnormalities showed no statistically significant (17.1% vs 20.0%, P=0.753).

Conclusion: Morphological reassessment of bone marrow cell dysplasia is crucial to the differential diagnoses between AML-MRC (defined only by morphological changes of multilineage dysplasia) and AML-NOS. And the detection rate of cytogenetic abnormalities that mainly consisted of complex karyotypes and myelodysplasia-related abnormalities was higher in AML-MRC patients.

题目: 急性髓系白血病伴骨髓增生异常相关改变的临床与遗传学特征研究.

目的: 探讨基于形态学定义的急性髓系白血病伴骨髓增生异常相关改变(AML-MRC)的临床和遗传学特征。.

方法: 收集并回顾性分析180例新发AML患者的临床资料,并对纳入研究的126例新发AML患者骨髓涂片重新评估,研究仅形态学多系发育异常(MLD)定义的AML-MRC-1组、基于骨髓增生异常综合征(MDS)、MDS/骨髓增殖性肿瘤(MPN)病史或无MLD但存在MDS相关遗传学异常定义的AML-MRC-2组和AML非特指型(AML-NOS)组患者的年龄和性别分布、WBC数、HGB水平、PLT数、原始细胞百分比、异常核型检出率等临床和遗传学特征。.

结果: AML-MRC-1、AML-MRC-2和AML-NOS 这3组在性别和年龄分布及PLT数上差异无统计学意义(P=0.898,P=0.365, P=0.853),但60岁以上患者占比AML-MRC-2组(73.2%)高于AML-MRC-1组(60.0%)和AML-NOS组(56.4%)(P= 0.228);3组的WBC数、HGB水平和原始细胞百分比都具有统计学差异(P=0.000, P=0.022, P=0.000),且AML-MRC-2组<AML-MRC-1组<AML-NOS组。AML-MRC患者异常核型总检出率为59.2%,其中复杂核型和其他MDS相关遗传学异常占49.3%,涉及5q-/-5最常见(28.2%),其次分别是:7q-/-7(19.1%)、17p-/-17(14.1%)、+8(14.1%)、20q-(12.7%);异常核型检出率比较:AML-MRC-2组(73.2%)>AML-MRC-1组(40.0%)>AML-NOS组(25.4%),差异有统计学意义(P=0.000)。AML-MRC-2组和AML-MRC-1组都以复杂核型和MDS相关异常为主,两组中复杂核型占比差异有统计学意义(41.5% vs 16.7%,P=0.026),其他MDS相关遗传学异常占比差异无统计学意义(17.1% vs 20.0%,P=0.753)。.

结论: 形态学评估新发AML患者细胞发育异常是仅形态学MLD定义的AML-MRC与AML-NOS鉴别诊断的重要依据,前者遗传学异常检出率更高,且以遗传学预后高危的复杂核型和MDS相关遗传学异常为主。.

MeSH terms

  • Cytogenetic Analysis
  • Cytogenetics
  • Humans
  • Leukemia, Myeloid, Acute* / genetics
  • Middle Aged
  • Myelodysplastic Syndromes* / genetics
  • Retrospective Studies