A blastic plasmacytoid dendritic cell neoplasm-like immunophenotype is negatively associated with CEBPA bZIP mutation and predicts unfavorable prognosis in acute myeloid leukemia
A blastic plasmacytoid dendritic cell neoplasm-like immunophenotype is negatively associated with CEBPA bZIP mutation and predicts unfavorable prognosis in acute myeloid leukemia
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DOI：
10.1007/s00277-023-05594-8
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发表时间：
2024-01
影响因子：
3.5
通讯作者：
Juanjuan Song;Weiya Li;Yanliang Bai;P. Zhou;J. Niu;X. Niu;Ying Liu;Xiaobo Liu;E. K. Drokow;Kai Sun;Hu Zhou
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文献类型：
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作者：
Juanjuan Song;Weiya Li;Yanliang Bai;P. Zhou;J. Niu;X. Niu;Ying Liu;Xiaobo Liu;E. K. Drokow;Kai Sun;Hu Zhou
母细胞性浆细胞样树突状细胞肿瘤（BPDCN）是一种罕见且侵袭性的骨髓恶性肿瘤，其特征性表达非典型表型，包括CD 123+、CD 56+和CD 4+。我们的目的是研究表现出BPDCN样免疫表型的AML患者的临床和预后特征，并为AML的风险分层提供额外的见解。共有241例新诊断的AML患者入组这项回顾性研究，并根据CD 123+沿着CD 56+或CD 4+或两者同时存在，分为BPDCN样阳性（n= 125）/阴性（n= 116）组。随后，进行了分析，以检查两个相应组的一般临床特征，遗传特征和预后。BPDCN样免疫表型患者的急性粒单核细胞白血病和急性单核细胞白血病的发生率较高。令人惊讶的是，BPDCN样免疫表型的存在与CEBPA bZIP突变呈反比关系。值得注意的是，与无BPDCN样表型的患者相比，具有BPDCN样表型的患者具有更差的OS和EFS。在CN-AML亚组中，BPDCN样表型与更差的EFS相关。同样，在可危亚组中OS和EFS的差异也有统计学意义，而在不良风险亚组中只有OS有统计学意义。此外，具有可危遗传学而无BPDCN样表型的患者生存期最长，而同时具有不良风险遗传学和BPDCN样表型的患者生存期最差。我们的研究表明，BPDCN样表型与CEBPA bZIP突变呈负相关，并显示AML的预后显着不良。此外，2022 ELN分类与BPDCN样表型相结合，可以更好地区分不同的风险群体。
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare and aggressive myeloid malignancy which characteristically expresses an atypical phenotype including CD123+, CD56+, and CD4+. We are aimed to investigate the clinical and prognostic characteristics of AML patients exhibiting BPDCN-like immunophenotype and provide additional insights for risk stratification of AML. A total of 241 newly diagnosed AML patients were enrolled in this retrospective study and categorized into BPDCN-like positive (n= 125)/negative (n= 116) groups, determined by the present with CD123+ along with either CD56+ or CD4+, or both. Subsequently, an analysis was conducted to examine the general clinical characteristics, genetic profiles, and prognosis of the two respective groups. Patients with BPDCN-like immunophenotype manifested higher frequencies of acute myelomonocytic leukemia and acute monoblastic leukemia. Surprisingly, the presence of the BPDCN-like immunophenotype exhibited an inverse relationship with CEBPA bZIP mutation. Notably, patients with BPDCN-like phenotype had both worse OS and EFS compared to those without BPDCN-like phenotype. In the CN-AML subgroups, the BPDCN-like phenotype was associated with worse EFS. Similarly, a statistically significant disparity was observed in both OS and EFS within the favorable-risk subgroup, while only OS was significant within the adverse-risk subgrouMoreover, patients possessing favorable-risk genetics without BPDCN-like phenotype had the longest survival, whereas those who had both adverse-risk genetics and BPDCN-like phenotype exhibited the worst survival. Our study indicated that BPDCN-like phenotype negatively associated with CEBPA bZIP mutation and revealed a significantly poor prognosis in AML. Moreover, the 2022 ELN classification, in combination with the BPDCN-like phenotype, may better distinguish between different risk groups.