[Multiple primary myeloid sarcoma in a child with t(16;21)(p11;q22)-TLS-ERG fusion gene]

Zhonghua Er Ke Za Zhi. 2023 May 2;61(5):467-469. doi: 10.3760/cma.j.cn112140-20220922-00830.
[Article in Chinese]

Abstract

患儿 女，11岁，因“眼黄、皮肤黄、尿黄2个月，确诊（十二指肠）髓系肉瘤1个月”就诊，首发表现为胰十二指肠占位，术后病理提示髓系肉瘤，后出现盆腔占位性病变，影像学提示全身多部位转移性病灶，盆腔占位组织病理提示髓系肉瘤，有t（16；21）（p11；q22）染色体核型异常伴TLS-ERG融合基因，诊断为伴t（16；21）（p11；q22）及TLS-ERG融合基因多发性原发性髓系肉瘤，多次化疗后疗效不佳，经造血干细胞移植、去甲基化等治疗后病情控制。.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Chromosomes, Human, Pair 16
  • Humans
  • Leukemia, Myeloid, Acute*
  • Neoplasms, Multiple Primary* / genetics
  • Oncogene Proteins, Fusion / genetics
  • RNA-Binding Protein FUS / genetics
  • Sarcoma, Myeloid* / genetics
  • Transcriptional Regulator ERG / genetics
  • Translocation, Genetic

Substances

  • ERG protein, human
  • Oncogene Proteins, Fusion
  • RNA-Binding Protein FUS
  • TLS-ERG fusion protein, human
  • Transcriptional Regulator ERG