我们试图描述伴有 CBFB 重排的急性髓系白血病 (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。对 61 例伴有 CBFB 重排的 AML 病例进行了评估。样本人群包括 33 名男性和 28 名女性，其中中位年龄为 49 岁。流式细胞术免疫表型分析显示，所有病例中成髓细胞CD34和CD117均呈阳性，55例中有52例（95%）髓过氧化物酶呈阳性。最常见的异常包括 90% 的 CD38 减少、85% 的 CD13 增加、84% 的 CD123 增加、84% 的病例 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 例具有可用核型的病例中，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 转录物最常见，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 型病例中的原始细胞更频繁地表现出 CD64 阳性和增加的 CD13 水平，同时显示出较低频率的 CD7 和 CD56 表达。 22 三体以及 KIT、NF1 和 TET2 突变仅在 A 型转录本的病例中被发现。具有 CBFB 重排的 AML 成髓细胞 CD34、CD117 和髓过氧化物酶呈阳性。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。© 作者 2024。由牛津大学出版社代表美国临床病理学会出版。版权所有。如需商业重复使用，请联系 reprints@oup.com 获取转载和转载的翻译权。所有其他权限均可通过我们网站文章页面上的“权限”链接通过我们的 RightsLink 服务获得 - 欲了解更多信息，请联系journals.permissions@oup.com。

We sought to characterize the immunophenotype of acute myeloid leukemia (AML) with CBFB rearrangement and correlate the results with cytogenetic and molecular data.Sixty-one cases of AML with CBFB rearrangement were evaluated.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.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.© The Author(s) 2024. Published by Oxford University Press on behalf of American Society for Clinical Pathology. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com.