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Tauziède-Espariat A, Pierron G, Guillemot D, et al. A novel SMARCA2-CREM fusion: expanding the molecular spectrum of intracranial mesenchymal tumors beyond the FET genes. Acta Neuropathol Commun. 2021;9(1):174doi: 10.1186/s40478-021-01278-4.
Tauziède-Espariat, A., Pierron, G., Guillemot, D., Sievers, P., Cazals-Hatem, D., Faillot, T., Roux, A., Benzakoun, J., Bockel, S., Weinbreck, N., Hasty, L., Lechapt, E., Chrétien, F., & Varlet, P. (2021). A novel SMARCA2-CREM fusion: expanding the molecular spectrum of intracranial mesenchymal tumors beyond the FET genes. Acta neuropathologica communications, 9(1), 174. https://doi.org/10.1186/s40478-021-01278-4
Tauziède-Espariat, Arnault, et al. "A novel SMARCA2-CREM fusion: expanding the molecular spectrum of intracranial mesenchymal tumors beyond the FET genes." Acta neuropathologica communications vol. 9,1 (2021): 174. doi: https://doi.org/10.1186/s40478-021-01278-4
Tauziède-Espariat A, Pierron G, Guillemot D, Sievers P, Cazals-Hatem D, Faillot T, Roux A, Benzakoun J, Bockel S, Weinbreck N, Hasty L, Lechapt E, Chrétien F, Varlet P. A novel SMARCA2-CREM fusion: expanding the molecular spectrum of intracranial mesenchymal tumors beyond the FET genes. Acta Neuropathol Commun. 2021 Oct 29;9(1):174. doi: 10.1186/s40478-021-01278-4. PMID: 34715942; PMCID: PMC8555238.
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Acta Neuropathol Commun. 2021 Oct 29;9(1):174. doi: 10.1186/s40478-021-01278-4.

A novel SMARCA2-CREM fusion: expanding the molecular spectrum of intracranial mesenchymal tumors beyond the FET genes.

Acta neuropathologica communications

Arnault Tauziède-Espariat, Gaëlle Pierron, Delphine Guillemot, Philipp Sievers, Dominique Cazals-Hatem, Thierry Faillot, Alexandre Roux, Joseph Benzakoun, Sophie Bockel, Nicolas Weinbreck, Lauren Hasty, Emmanuèle Lechapt, Fabrice Chrétien, Pascale Varlet

Affiliations

  1. Department of Neuropathology, GHU Paris - Psychiatry and Neuroscience, Sainte-Anne Hospital, 1, rue Cabanis, 75014, Paris, France. [email protected].
  2. Institut de Psychiatrie et Neurosciences de Paris (IPNP), UMR S1266, INSERM, IMA-BRAIN, Paris, France. [email protected].
  3. Université de Paris, Paris, France. [email protected].
  4. Paris-Sciences-Lettres, Curie Institute Research Center, INSERMU830, Paris, France.
  5. Laboratory of Somatic Genetics, Curie Institute Hospital, Paris, France.
  6. Department of Neuropathology, Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany.
  7. Clinical Cooperation Unit Neuropathology, German Cancer Research Center DKFZ, German Consortium for Translational Cancer Research (DKTK), Heidelberg, Germany.
  8. Department of Pathology, APHP University Hospital Beaujon, Clichy, France.
  9. Department of Neurosurgery, APHP University Hospital Beaujon, Clichy, France.
  10. Institut de Psychiatrie et Neurosciences de Paris (IPNP), UMR S1266, INSERM, IMA-BRAIN, Paris, France.
  11. Université de Paris, Paris, France.
  12. Department of Neurosurgery, GHU Paris-Psychiatrie et Neurosciences, Sainte-Anne Hospital, Paris, France.
  13. Department of Radiology, GHU Paris-Psychiatrie et Neurosciences, Sainte-Anne Hospital, Paris, France.
  14. Department of Radiation Oncology, Gustave Roussy, Paris-Saclay University, Villejuif, France.
  15. Medipath Pathology Lab, Frejus, France.
  16. Department of Neuropathology, GHU Paris - Psychiatry and Neuroscience, Sainte-Anne Hospital, 1, rue Cabanis, 75014, Paris, France.

PMID: 34715942 PMCID: PMC8555238 DOI: 10.1186/s40478-021-01278-4

Abstract

A novel histomolecular tumor of the central nervous system, the "intracranial mesenchymal tumor (IMT), FET-CREB fusion-positive" has recently been identified in the literature and will be added to the 2021 World Health Organization Classification of Tumors of the Central Nervous System. However, our latest study using DNA-methylation analyses has revealed that intracranial FET-CREB fused tumors do not represent a single molecular tumor entity. Among them, the main subgroup presented classical features of angiomatoid fibrous histiocytoma, having ultrastructural features of arachnoidal cells, for. Another tumor type with clear cell component and histopathological signs of aggressivity clustered in close vicinity with clear cell sarcoma of soft tissue. Herein, we report one case of IMT with a novel SMARCA2-CREM fusion which has until now never been described in soft tissue or the central nervous system. We compare its clinical, histopathological, immunophenotypic, genetic and epigenetic features with those previously described in IMT, FET-CREB fusion-positive. Interestingly, the current case did not cluster with IMT, FET-CREB fusion-positive but rather presented histopathological (clear cell morphology with signs of malignancy), clinical (with a dismal course with several recurrences, metastases and finally the patient's death), genetic (fusion implicating the CREM gene), and epigenetic (DNA-methylation profiling) similarities with our previously reported clear cell sarcoma-like tumor of the central nervous system. Our results added data suggesting that different clinical and histomolecular tumor subtypes or grades seem to be included within the terminology "IMT, FET-CREB fusion-positive", and that further series of cases are needed to better characterize them.

© 2021. The Author(s).

Keywords: CREM; Intracranial mesenchymal tumor; SMARCA2

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