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Identification of a novel translocation producing an in-frame fusion of TAF15 and ETV4 in a case of extraosseous Ewing sarcoma revealed in the prenatal period

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Abstract

Ewing sarcoma (ES) is a highly malignant round cell sarcoma, characterized by gene fusion involving FET (FUS, EWSR1, TAF15) and ETS family genes, respectively. The involvement of the EWSR1 gene has been reported in approximately 90% of cases of ES, with the EWSR1::FLI1 fusion being the most frequent. We report the case of a newborn with a localized soft tissue paravertebral neoplasm diagnosed prenatally. Histopathology and immunophenotype were consistent with a CD99 + , NKX2.2 + undifferentiated round cell sarcoma (URSC); whole-exome RNA-sequencing demonstrated an undescribed in-frame TAF15::ETV4 fusion transcript, while consensus clustering analysis showed high transcriptomic proximity to the ES group. Given clinical context, high tumor chemosensitivity to ES conventional drugs, morphological characteristics, nature of the fusion partners involved, and high transcriptomic proximity to bona fide ESs, this case may represent a new genetic variant of ES.

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Authors and Affiliations

  1. Institut de Pathologie Multisite, Site Est, Hospices Civils de Lyon, Lyon, France

    Cécile Picard & Frédérique Dijoud

  2. Department of Biopathology, UNICANCER, Centre Leon Bérard, Lyon, France

    Nicolas Macagno, Alexandra Meurgey, Marie Karanian & Daniel Pissaloux

  3. UMR1251, Department of Pathology, Aix Marseille Univ, INSERM, APHM MMG, Marmara Institute, La Timone Hospital, Marseille, France

    Nicolas Macagno

  4. Department of Pediatric Oncology, Centre Léon Bérard, Institut d’Hematologie Et d’Oncologie Pédiatrique, Lyon, France

    Nadège Corradini & Perrine Marec-Bérard

  5. Consultation Des Angiomes, Centre de Compétence Des Malformations Vasculaires Superficielles, Service d Imagerie Pédiatrique, Hôpital Femme-Mère-Enfant, Bron, France

    Sara Cabet, Laurent Guibaud & Loic Viremouneix

  6. Department of Paediatric Orthopaedic Surgery, Hôpital Femme-Mère-Enfant de Lyon, Hospices Civils de Lyon, Université Claude-Bernard Lyon 1, 69500, Bron, France

    Sébastien Raux & Franck Chotel

  7. Medipath Fréjus-Saint-Raphael, Pôle d’Excellence Jean Louis, 263 via Nova, Frejus, France

    Nicolas Weinbreck

  8. Centre Léon Bérard, Université Lyon, Université Claude Bernard Lyon 1, CNRS 5286, Cancer Research Center of Lyon, INSERM 1052, Lyon, France

    Frank Tirode

Authors
  1. Cécile Picard
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  2. Nicolas Macagno
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  3. Nadège Corradini
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  4. Perrine Marec-Bérard
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  5. Sara Cabet
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  6. Laurent Guibaud
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  7. Loic Viremouneix
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  8. Sébastien Raux
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  9. Franck Chotel
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  11. Alexandra Meurgey
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  12. Marie Karanian
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  13. Daniel Pissaloux
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  14. Frank Tirode
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  15. Frédérique Dijoud
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Contributions

C.P., N.M., and F.D. conceived and designed the study and take responsibility for the integrity of the data. N.C., P. MB, S.R., and F.C. provided clinical data and performed clinical routine investigations and surgical procedures. L.G., L.V., and S.C. provided imaging data. C.P., N.M., A.M., M.K., N.W., and F.D. provided histological and immunohistological data. N.M., A.M., M.K. F.T., and D.P. performed whole-exome RNA sequencing and expression profile analyses. C.P. and N.M drafted the paper.

All the authors critically revised the manuscript for important intellectual content and gave final approval for the version to be published. All the authors agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

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Correspondence to Cécile Picard.

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The authors declare no competing interests.

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Picard, C., Macagno, N., Corradini, N. et al. Identification of a novel translocation producing an in-frame fusion of TAF15 and ETV4 in a case of extraosseous Ewing sarcoma revealed in the prenatal period. Virchows Arch 481, 665–669 (2022). https://doi.org/10.1007/s00428-022-03335-2

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  • DOI: https://doi.org/10.1007/s00428-022-03335-2

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