母细胞性浆细胞样树突细胞肿瘤临床病理学及分子遗传学特征

Blastic plasmacytoid dendritic cell neoplasm:clinicopathological and molecular genetic characteristics

目的探讨母细胞性浆细胞样树突细胞肿瘤(BPDCN)的临床病理学及分子遗传学特征,以提高对该疾病的认识。方法回顾性分析8例BPDCN的临床病理资料、免疫表型等结果,并复习相关文献。结果8例患者中5例男性,3例女性。镜下肿瘤细胞浸润性生长,中等大小,形态一致,呈母细胞样,核分裂象易见。CD123、CD43、CD4均为阳性;7例表达CD56;2例TdT阳性;Ki-67增殖指数35%~95%,EBER原位杂交均为阴性。1例检测出DNMT3A基因Arg882His突变,另1例检测到CSMD1基因N191K突变,为胚系突变。结论BPDCN是一种罕见的高度侵袭性的肿瘤,预后较差。临床表现多样,常侵犯皮肤、淋巴结、骨髓。确诊主要依靠病理特征和临床表现。病变局限者手术切除或许能获益。

Objective To explore the clinicopathological and molecular genetic characteristics of blastic plasmacytoid dendritic cell neoplasm(BPDCN)and to improve the understanding about it.Methods The clinicopathologic data of 8 BPDCN cases were analyzed retrospectively and the related literatures were reviewed.Results There were 5 males and 3 females.The tumor cells were diffusely infiltrating,medium in size,uniform in morphology and showed a mother cell pattern.The mitoses were visible.The result of immunophenotype showed that all 8 cases were positive for CD123,CD43 and CD4,CD56 positive in 7 cases,TdT positive in 2 cases,the Ki-67 proliferation index was around 35%-95%.By targeted next generation sequencing,DNMT3A Arg882His mutation was found in one case and CSMD1 N191K mutation,a germline mutation,was found in another.Conclusion BPDCN is a rare and aggressive hematologic malignancy with poor clinical outcomes.It has various clinical manifestations,often involving skin,lymph nodes,as well as bone marrow.Its diagnosis predominantly depends on clinical manifestations and the result of pathological examination.Patients with skin solitary lesion may benefit from surgical resection.