Integrative immunophenotypic and genetic characterization of acute myeloid leukemia with CBFB rearrangement.

IF 4.6 Q2 MATERIALS SCIENCE, BIOMATERIALS
Fnu Sameeta, Sa A Wang, Zhenya Tang, Joseph D Khoury, Hong Fang, Dylan Wang, Jie Xu, Shaoying Li, Zhihong Hu, Shimin Hu, Jeffrey L Jorgensen, L Jeffrey Medeiros, Wei Wang
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Abstract

Objectives: We sought to characterize the immunophenotype of acute myeloid leukemia (AML) with CBFB rearrangement and correlate the results with cytogenetic and molecular data.

Methods: Sixty-one cases of AML with CBFB rearrangement were evaluated.

Results: The sample population consisted of 33 men and 28 women, with a median age of 49 years. Flow cytometry immunophenotypic analysis showed that myeloblasts were positive for CD34 and CD117 in all cases, and myeloperoxidase was positive in 52 of 55 (95%) cases. The most common abnormalities included decreased CD38 in 90%, increased CD13 in 85%, increased CD123 in 84%, and decreased HLA-DR in 84% of cases. Monocytes were increased, with a mature immunophenotype, and accounted for 23.7% of total cells. Among 60 cases with available karyotype, inv(16)(p13.1q22) was most common in 50 (83%) cases, followed by t(16;16) (p13.1;q22) in 6 (10%). Type A CBFB::MYH11 transcript was most common, detected in 84% of cases. Mutational analysis showed mutations of NRAS in 37%, FLT3 in 25%, and KIT in 24% of cases. Comparing cases with type A vs non-type A transcripts, blasts in type A cases more frequently exhibited CD64 positivity and increased CD13 levels while showing a lower frequency of CD7 and CD56 expression. Trisomy 22 and mutations in KIT, NF1, and TET2 were identified only in cases with type A transcript.

Conclusions: Myeloblasts of AML with CBFB rearrangement are positive for CD34, CD117, and myeloperoxidase. These neoplasms most frequently carry inv(16)(p13.1q22) and type A fusion transcript. NRAS mutation was the most common mutation. Some immunophenotypic and genetic correlations occurred with different types of transcripts.

带有 CBFB 重排的急性髓性白血病的免疫表型和遗传特征综合分析。
目的:我们试图描述伴有CBFB重排的急性髓性白血病(AML)的免疫表型,并将结果与细胞遗传学和分子数据进行关联:我们试图描述伴有CBFB重排的急性髓性白血病(AML)的免疫表型特征,并将结果与细胞遗传学和分子数据相关联:方法:对61例CBFB重排的急性髓性白血病病例进行了评估:结果:样本人群包括 33 名男性和 28 名女性,中位年龄为 49 岁。流式细胞术免疫表型分析显示,所有病例的骨髓细胞 CD34 和 CD117 均呈阳性,55 例病例中有 52 例(95%)骨髓过氧化物酶呈阳性。最常见的异常包括 90% 的病例中 CD38 减少,85% 的病例中 CD13 增加,84% 的病例中 CD123 增加,84% 的病例中 HLA-DR 减少。单核细胞增多,免疫表型成熟,占细胞总数的 23.7%。在 60 例可提供核型的病例中,inv(16)(p13.1q22) 最常见,占 50 例(83%),其次是 t(16;16) (p13.1;q22),占 6 例(10%)。A型CBFB::MYH11转录本最常见,在84%的病例中检测到。突变分析显示,37%的病例存在NRAS突变,25%的病例存在FLT3突变,24%的病例存在KIT突变。比较A型与非A型转录本的病例,A型病例的胚泡更常表现出CD64阳性和CD13水平升高,而CD7和CD56的表达频率较低。只有在A型转录本病例中才发现了22三体综合征以及KIT、NF1和TET2突变:结论:具有 CBFB 重排的急性髓细胞性白血病骨髓母细胞的 CD34、CD117 和髓过氧化物酶均呈阳性。这些肿瘤最常携带 inv(16)(p13.1q22) 和 A 型融合转录本。NRAS突变是最常见的突变。不同类型的转录本存在一些免疫表型和遗传相关性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
ACS Applied Bio Materials
ACS Applied Bio Materials Chemistry-Chemistry (all)
CiteScore
9.40
自引率
2.10%
发文量
464
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