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Atypical central neurocytoma with novel EWSR1-ATF1 fusion and MUTYH mutation detected by next-generation sequencing
  1. Yasmin Aghajan1,
  2. Denise M Malicki2,
  3. Michael L Levy3 and
  4. John Ross Crawford4
  1. 1 School of Medicine, UC San Diego, La Jolla, California, USA
  2. 2 Department of Pathology, Rady Children’s Hospital University of California San Diego, San Diego, California, USA
  3. 3 Department of Neurosurgery, University of California San Diego, San Diego, California, USA
  4. 4 Department of Neurosciences and Pediatrics, University of California San Diego, San Diego, California, USA
  1. Correspondence to Dr John Ross Crawford, jrcrawford{at}


We present the case of a 13-year-old boy with a very unusual periventricular atypical central neurocytoma with unique molecular features treated with subtotal surgical resection and photon intensity-modulated radiotherapy. Histological features were most consistent with atypical central neurocytoma. However, next-generation sequencing analysis revealed a novel EWSR1-ATF1 gene fusion (EWSR1-ATF1) as well as a MUTYH mutation. The EWSR1-ATF1 raised the possibility of Ewing sarcoma or angiomatoid fibrous histiocytoma, however, FLI-1 immunohistochemistry was negative. MUTYH mutations have been reported in diffuse midline paediatric glioma. The role of EWSR1-ATF1 and MUTYH mutations in central nervous system tumours is not well established. We present the first case of EWSR1-ATF1 and MUTYH mutation in a rare paediatric atypical central neurocytoma. Further studies are indicated to elucidate the consequences of these gene alterations in the context of paediatric central nervous system tumours as well as to investigate the potential role for targeted therapies.

  • neurooncology
  • neuroimaging
  • cns cancer
  • paediatric oncology

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  • Contributors All authors have contributed equally to the design and writing of the manuscript and approve of its contents. YA, DMM, MLL and JRC: responsible for the design, interpretation and writing of the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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