母细胞性浆细胞样树突状细胞肿瘤临床分析

Clinical analysis of blastic plasmacytoid dendritic cell neoplasm

目的:探讨母细胞性浆细胞样树突状细胞肿瘤(blastic plasmacytoid dendritic cell neoplasm,BPDCN)的临床特征及分子生物学特点。方法:回顾性分析2017年10月——2020年11月收治的3例BPDCN患者,应用高通量测序(next generation sequencing,NGS)技术检测热点基因突变,动态监测其基因水平变化,分析临床特征。结果:3例患者诊断明确,均接受化疗,例1接受造血干细胞移植(hematopoietic stem cell transplantation,HSCT)后无病存活至今,例2、3死亡。例1以急性白血病起病,初诊时表现为TET2基因双位点突变,随着病程的发展,患者逐渐出现了KRAS和BRAF等突变;例2及例3均检测到胚系来源基因突变各1个,分别为PDGFβ突变(c.C283T)、rs2191566GG。结论:BPDCN的分子生物学特征具有异质性,NGS基因筛查有助于治疗方案的选择;KRAS、BRAF突变可能参与了伴TET2突变的BPDCN的发展,急性髓系白血病(acute myeloid leukemia,AML)样化疗方案对该类患者可能有效。

Objective:To investigate the clinical and molecular characteristics of the blastic plasmacytoid dendritic cell neoplasm(BPDCN).Methods:The clinical characteristics of 3 patients diagnosed with BPDCN enrolled from Oct.2017 to Nov.2020 were analyzed.The mutations at the hotspot region were monitored dynamically with the next generation sequencing tests.Results:After the diagnosis of BPDCN,the three patients underwent chemotherapy.Case 1,who received hematopoietic stem cell transplantation was still alive,but the other two cases died.Two TET2 mutations were detected in Case 1 at the time of diagnosis.And mutations of KRAS and BRAF were detected later.Mutations from the germline was detected in PDGFβ(c.C283 T),and rs2191566 GG in Case 2 and Case 3,respectively.Conclusions:The molecular biological characteristics of BPDCN were heterogeneous,and NGS screening was helpful for the selection of therapeutic regimen.We have found that TET2,KRAS and BRAF mutations are possibly involved in the development of BPDCN,and the acute myeloid leukemia(AML)-like regimen may be effective for BPDCN harboring the mutations frequently occurring in myeloid neoplasms.