[Alveolar rhabdomyosarcoma with amplification of 12q15 region including MDM2 and FRS2 genes: report of a case]

Zhonghua Bing Li Xue Za Zhi. 2025 Jan 8;54(1):84-86. doi: 10.3760/cma.j.cn112151-20240407-00230.
[Article in Chinese]

Abstract

报道1例罕见的PAX3：：FOXO1融合的腺泡状横纹肌肉瘤（alveolar rhabdomyosarcoma，ARMS）伴有12q15区段中MDM2、FRS2基因高水平扩增的病例。患儿女，12岁，因发现左手大鱼际质硬包块入院。镜下见肿瘤细胞呈圆形、卵圆形及多角形，排列呈条索状和巢状，部分形成腺泡状结构，腺泡之间为纤维血管性间隔。免疫组织化学示肿瘤细胞结蛋白、Myogenin、MyoD1阳性，MDM2局灶阳性，CDK4及间变性淋巴瘤激酶阴性。荧光原位杂交检测提示PAX3：：FOXO1基因融合，MDM2及FRS2基因扩增，CDK4、GLI1基因未扩增。MDM2 RNA原位杂交呈强阳性。本例的发现提示除上述3种遗传学近亲肿瘤外，ARMS也可发生12q15区段的扩增。但不同的是，上述肿瘤常发生12q13-15多区段共扩增，而ARMS病例则主要发生12q13-14或12q15区段单扩增。.

Publication types

  • Case Reports

MeSH terms

  • Adaptor Proteins, Signal Transducing* / genetics
  • Adaptor Proteins, Signal Transducing* / metabolism
  • Child
  • Chromosomes, Human, Pair 12* / genetics
  • Female
  • Forkhead Box Protein O1 / genetics
  • Forkhead Box Protein O1 / metabolism
  • Gene Amplification*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Membrane Proteins* / genetics
  • Membrane Proteins* / metabolism
  • MyoD Protein / genetics
  • MyoD Protein / metabolism
  • Myogenin / genetics
  • Myogenin / metabolism
  • Oncogene Proteins, Fusion* / genetics
  • PAX3 Transcription Factor / genetics
  • PAX3 Transcription Factor / metabolism
  • Proto-Oncogene Proteins c-mdm2* / genetics
  • Rhabdomyosarcoma, Alveolar* / genetics
  • Rhabdomyosarcoma, Alveolar* / metabolism
  • Rhabdomyosarcoma, Alveolar* / pathology

Substances

  • Proto-Oncogene Proteins c-mdm2
  • FRS2 protein, human
  • MDM2 protein, human
  • Membrane Proteins
  • Oncogene Proteins, Fusion
  • Adaptor Proteins, Signal Transducing
  • Forkhead Box Protein O1
  • PAX3 Transcription Factor
  • MyoD Protein
  • Myogenin
  • FOXO1 protein, human
  • MyoD1 myogenic differentiation protein