[Primary nasal and sinus blastic plasmacytoid dendritic cell neoplasm with EWSR1 gene translocation: report of a case]

Zhonghua Bing Li Xue Za Zhi. 2024 Jul 8;53(7):747-749. doi: 10.3760/cma.j.cn112151-20240107-00015.
[Article in Chinese]

Abstract

母细胞性浆细胞样树突状细胞肿瘤（BPDCN）是一种高度侵袭性的恶性肿瘤，主要依靠术后病理明确诊断。患者女，32岁。4个月前右侧鼻塞伴右眼流泪入院，发现右侧鼻腔肿物，镜下形态与多种小圆细胞恶性肿瘤相似，免疫组织化学染色显示CD123、CD56、CD4等阳性；EB病毒编码的RNA原位杂交检测结果阴性；外周血、骨髓穿刺活检未见异常；抗原受体基因克隆性重排PCR检测结果未显示B细胞及T细胞受体克隆性重排；染色体检查：患者为相对正常的整倍体，但EWSR1荧光染色体原位杂交显示伴有EWSR1（22q12）染色体易位，最终诊断为伴EWSR1基因易位的原发性鼻腔鼻窦BPDCN。.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Calmodulin-Binding Proteins / genetics
  • Calmodulin-Binding Proteins / metabolism
  • Chromosomes, Human, Pair 22 / genetics
  • Dendritic Cells* / pathology
  • Female
  • Humans
  • Nose Neoplasms* / genetics
  • Nose Neoplasms* / metabolism
  • Nose Neoplasms* / pathology
  • Paranasal Sinus Neoplasms / genetics
  • Paranasal Sinus Neoplasms / pathology
  • RNA-Binding Protein EWS* / genetics
  • RNA-Binding Proteins / genetics
  • RNA-Binding Proteins / metabolism
  • Translocation, Genetic*

Substances

  • RNA-Binding Protein EWS
  • EWSR1 protein, human
  • RNA-Binding Proteins
  • Calmodulin-Binding Proteins