[Central nervous system sarcoma with ATXN1::DUX4 fusions: report of a case]

Zhonghua Bing Li Xue Za Zhi. 2025 Feb 8;54(2):181-183. doi: 10.3760/cma.j.cn112151-20240711-00452.
[Article in Chinese]

Abstract

ATXN1::DUX4融合中枢神经系统肉瘤是一种极罕见的中枢神经系统高级别肉瘤,本文报道1例发生于颅内右侧颞顶叶的ATXN1::DUX4融合肉瘤。患儿女,5岁,因“头痛半个月,加重3 d,发现颅内占位性病变”入院。磁共振成像检查显示颅内占位性病变,考虑胶质瘤,完善术前准备后行肿瘤切除术。术后病理检查,镜下可见肿瘤细胞多形性,呈圆形或上皮样改变,弥漫性分布,内见不规则坏死,局部见黏液样区;肿瘤细胞核仁明显,核分裂象易见,胞质嗜酸性。免疫组织化学染色示WT1、ETV4、DUX4、波形蛋白均阳性表达,CD99斑驳阳性,Ki-67阳性指数80%。荧光原位杂交检测CIC断裂阴性,DUX4断裂阳性。二代测序检测显示ATXN1::DUX4融合。.

Publication types

  • Case Reports

MeSH terms

  • Ataxin-1* / genetics
  • Ataxin-1* / metabolism
  • Brain Neoplasms / genetics
  • Brain Neoplasms / metabolism
  • Brain Neoplasms / pathology
  • Brain Neoplasms / surgery
  • Child, Preschool
  • Homeodomain Proteins / genetics
  • Homeodomain Proteins / metabolism
  • Humans
  • In Situ Hybridization, Fluorescence
  • Magnetic Resonance Imaging
  • Male
  • Oncogene Proteins, Fusion / genetics
  • Oncogene Proteins, Fusion / metabolism
  • Sarcoma / genetics
  • Sarcoma / metabolism
  • Sarcoma / pathology
  • Sarcoma / surgery

Substances

  • Ataxin-1
  • Homeodomain Proteins
  • DUX4L1 protein, human
  • ATXN1 protein, human
  • Oncogene Proteins, Fusion