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Science China Life Sciences

, Volume 60, Issue 7, pp 721–728 | Cite as

Detection of FOXO1 break-apart status by fluorescence in situ hybridization in atypical alveolar rhabdomyosarcoma

  • Libing Fu
  • Yaqiong Jin
  • Chao Jia
  • Jie Zhang
  • Jun Tai
  • Hongbin Li
  • Feng Chen
  • Jin Shi
  • Yongli Guo
  • Xin NiEmail author
  • Lejian HeEmail author
Research Paper

Abstract

The morphologies of alveolar rhabdomyosarcoma (ARMS) are various. Some cases entirely lack an alveolar pattern and instead display a histological pattern that overlaps with embryonal rhabdomyosarcoma (ERMS). The method of pathological diagnosis of ARMS and ERMS has been updated in the 4th edition of the World Health Organization’s guidelines for classification of skeletal muscle tumors. Under the new guidelines, there is still no molecular test to distinguish between these two subtypes of rhabdomyosarcoma (RMS). In the present study, we applied fluorescent in situ hybridization (FISH) and found that the Forkhead box O1 (FOXO1) gene broke apart, amplified, and displayed an aneuploid signal that was related to the RMS pathological subtype. Aside from the fact that FOXO1 break-apart and its amplification were correlated with atypical ARMS, aneuploidies were usually found in atypical ERMS. In conclusion, our results detail a potential biomarker to improve the accuracy of pathological diagnosis by discriminating between atypical ARMS and atypical ERMS.

Keywords

atypical alveolar rhabdomyosarcoma FOXO1 fluorescence in situ hybridization 

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Notes

Acknowledgements

This work was supported in part by Beijing Municipal Administration of Hospitals Clinical Medicine Development of Special Funding Support (ZYLX201508), Beijing Health System Top Level Health Technical Personnel Training Plan (20153079), and the Beijing Talents Fund (2015000021469G210).

Supplementary material

11427_2017_9082_MOESM1_ESM.doc (38 kb)
Abnormal FOXO1 genetic events and risk-stratify of RMS

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Copyright information

© Science China Press and Springer-Verlag GmbH Germany 2017

Authors and Affiliations

  • Libing Fu
    • 1
  • Yaqiong Jin
    • 2
    • 3
  • Chao Jia
    • 1
  • Jie Zhang
    • 4
  • Jun Tai
    • 4
  • Hongbin Li
    • 4
  • Feng Chen
    • 4
  • Jin Shi
    • 2
  • Yongli Guo
    • 2
    • 3
  • Xin Ni
    • 2
    • 3
    • 4
    Email author
  • Lejian He
    • 1
    Email author
  1. 1.Department of Pathology, Beijing Children’s HospitalCapital Medical University, National Center for Children’s HealthBeijingChina
  2. 2.Beijing Key Laboratory for Pediatric Diseases of Otolaryngology, Head and Neck Surgery, MOE Key Laboratory of Major Diseases in Children, Beijing Pediatric Research Institute, Beijing Children’s HospitalCapital Medical University, National Center for Children’s HealthBeijingChina
  3. 3.Biobank for Clinical Data and Samples in Pediatric, Beijing Pediatric Research Institute, Beijing Children’s HospitalCapital Medical University, National Center for Children’s HealthBeijingChina
  4. 4.Department of Otolaryngology, Head and Neck Surgery, Beijing Children’s HospitalCapital Medical University, National Center for Children’s HealthBeijingChina

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