A Study Of Application Of Single-cell Sequencing In Blastic Plasmacytoid Dendritic Cell Neoplasm

Blastic plasmacytoid dendritic cell neoplasm(BPDCN)is one rare malignant tumor of the hemopoietic system,whose main diagnostic criteria depend on clinical manifestations,cell morphology and immunotyping.It still lacks specific molecular markers to distinguish BPDCN from other myeloid malignancies,which leads to often misdiagnosis.We reported two cases,both had difficulties to be distinguished between acute monocytic leukemia(AML-M5)and BPDCN,case 1 was finally diagnosed as BPDCN.By doing single-cell sequencing on bone marrow sample of case 1,a de novo AML-M5 case and a normal control case,we found BPDCN and AML-M5 were distinctively different on gene expression panels and can be easily dinstinguished.The most differential expressed genes between them were AREG,C12orf75,RASD1,PLD4,PMAIP1 and CD1 E,which were expressed significantly higher in BPDCN than AMLM5.By analyzing the bone marrow of BPDCN separately,we also found BPDCN indeed had different blast-like cells(cluster 1,2,3,4),cluster 3 belonged to proliferating cell,cluster 1,2,4 had different expression level of specific genes belongs to B cells and dendritic cells(DC)such as C12orf75,AREG,CD1 C and FCER1 A,was considered as sub-clones of BPDCN.Our study showed that single-cell sequencing technology has unique advantages in the diagnosis of BPDCN.BPDCN is a heterogeneous disease,of which malignant cells actually has sub-clones with different levels from the blast to more mature.BPDCN cells specifically expressed both DC and B cell genes.Further studies on the single-cell sequencing of BPDCN samples may elucidate the identity markers of BPDCN to learn more about this rare disease.