Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare, male-predominant hematologic malignancy with poor outcomes and with just one recently approved agent (tagraxofusp). It is characterized by the abnormal proliferation of precursor plasmacytoid dendritic cells (pDCs) with morphologic and molecular similarities to acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS)/chronic myelomonocytic leukemia (CMML) in its presentation within the bone marrow and peripheral blood. To identify disease-specific molecular features of BPDCN, we profiled the bone marrow, peripheral blood, and serum samples from primary patient samples using an in-house hematologic malignancy panel ("T300" panel), transcriptome microarray, and serum multiplex immunoassays. TET2 mutations (5/8, 63%) were the most prevalent in our cohort. Using the transcriptome microarray, genes specific to pDCs (LAMP5, CCDC50) were more highly expressed in BPDCN than in AML specimens. Finally, the serum cytokine profile analysis showed significantly elevated levels of eosinophil chemoattractants eotaxin and RANTES in BPDCN as compared with AML. Along with the high levels of PTPRS and dendritic nature of the tumor cells, these findings suggest a possible pre-inflammatory context of this disease, in which BPDCN features nonactivated pDCs.

中文翻译：

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弹性浆细胞样树突状细胞瘤（BPDCN）的非激活树突状状态和免疫缺陷的特征。

弹状浆细胞样树突状细胞瘤（BPDCN）是一种罕见的以男性为主的血液系统恶性肿瘤，预后较差，仅使用一种近期批准的药物（tagraxofusp）。它的特征是前浆细胞样树突状细胞（pDC）异常增殖，其形态和分子相似性与急性髓细胞性白血病（AML）和骨髓增生异常综合症（MDS）/慢性粒细胞性单核细胞白血病（CMML）呈递在骨髓和外周血中。为了鉴定BPDCN的疾病特异性分子特征，我们使用内部血液学恶性检测组（“ T300”检测组），转录组微阵列和血清多重免疫分析对来自原发患者样品的骨髓，外周血和血清样品进行了分析。在我们的队列中，TET2突变（5 / 8，63％）是最普遍的。使用转录组微阵列，BDCCN中的pDC特异性基因（LAMP5，CCDC50）比AML标本中的表达更高。最后，血清细胞因子谱分析显示，与AML相比，BPDCN中嗜酸性粒细胞趋化剂嗜酸性粒细胞趋化因子eotaxin和RANTES的水平显着升高。这些发现与高水平的PTPRS和肿瘤细胞的树突状性质一起，暗示了该疾病的可能的炎症前背景，其中BPDCN具有未激活的pDC。