State Key Laboratory of Experimental Hematology, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China.
The Center of Hematology, The First Affiliated Hospital of Nanchang University, Nanchang, China.
Int J Lab Hematol. 2023 Oct;45(5):743-750. doi: 10.1111/ijlh.14124. Epub 2023 Jun 19.
Acute myeloid leukemia (AML) patients with CEBPA double mutation (CEBPA ) were associated with distinct immunophenotypes and prognosis. Recently, both International Consensus Classification (ICC) and World Health Organization (WHO) classifications incorporated BZIP single mutations (CEBPA ) into the favorable risk group. However, the immunophenotypes of CEBPA mutations have not been characterized, especially when compared with the immunophenotypes of CEBPA .
Retrospectively, we investigated and compared the immunophenotypes of AML with CEBPA mutations. Randomforest model and XGBoost algorithm were used to set up a scoring system based on the immunophenotypes of those patients.
In a total of 967 AML patients: 218 were CEBPA (198 consisted of mutations in the BZIP region [CEBPA ], 20 were double mutations outside BZIP region [CEBPA ]), 117 were CEBPA (54 CEBPA and 63 were single mutations outside BZIP region [CEBPA ]) and the others were wildtype CEBPA (CEBPA ). Patients with CEBPA , CEBPA and CEBPA shared the distinct immunophenotype of CD7 CD34 MPO HLA-DR CD19 , in contrast to patients with CEBPA and CEBPA who showed reduced expression of CD7, HLA-DR, MPO, CD34 and a higher expression of CD19. Based on these immunophenotypes, we developed a scoring system to preemptively identify AML with CEBPA and CEBPA and validated it internally and externally.
AML with CEBPA , CEBPA , and CEBPA shared similar immunophenotypic profiles, whereas profoundly differed from the CEBPA and CEBPA AML.
伴有 CEBPA 双突变（CEBPA ）的急性髓系白血病（AML）患者具有独特的免疫表型和预后。最近，国际共识分类（ICC）和世界卫生组织（WHO）分类均将 BZIP 单突变（CEBPA ）纳入有利风险组。然而，CEBPA 突变的免疫表型尚未得到明确描述，特别是与 CEBPA 相比。
我们回顾性地研究并比较了伴有 CEBPA 突变的 AML 的免疫表型。随机森林模型和 XGBoost 算法用于根据这些患者的免疫表型建立评分系统。
在总共 967 例 AML 患者中：218 例为 CEBPA（198 例为 BZIP 区突变[CEBPA ]，20 例为 BZIP 区外双突变[CEBPA ]），117 例为 CEBPA（54 例为 CEBPA ，63 例为 BZIP 区外单突变[CEBPA ]），其余为野生型 CEBPA（CEBPA ）。CEBPA 、CEBPA 和 CEBPA 患者具有独特的免疫表型，表现为 CD7+CD34+MPO+HLA-DR+CD19+，而 CEBPA 和 CEBPA 患者则表现为 CD7、HLA-DR、MPO、CD34 表达降低和 CD19 表达升高。基于这些免疫表型，我们开发了一个评分系统，用于预测性识别 CEBPA 和 CEBPA 伴 AML，并在内部和外部进行了验证。
CEBPA 、CEBPA 和 CEBPA 伴 AML 具有相似的免疫表型特征，而与 CEBPA 和 CEBPA 伴 AML 明显不同。
