Intracranial mesenchymal tumor with FET-CREB fusion-A unifying diagnosis for the spectrum of intracranial myxoid mesenchymal tumors and angiomatoid fibrous histiocytoma-like neoplasms.

Autor:	Sloan EA; Department of Pathology, University of California, San Francisco, San Francisco, CA, USA., Chiang J; Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA., Villanueva-Meyer JE; Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, CA, USA., Alexandrescu S; Department of Pathology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Eschbacher JM; Department of Neuropathology, Barrow Neurological Institute, St Joseph's Hospital and Medical Center, Phoenix, AZ, USA., Wang W; Department of Pathology, The Ohio State University, Columbus, OH, USA., Mafra M; Department of Pathology, The Portuguese Institute of Oncology, Lisbon, Portugal., Ud Din N; Section of Histopathology, Department of Pathology and Laboratory Medicine, Aga Khan University Hospital, Karachi, Pakistan., Carr-Boyd E; Department of Histopathology, ADHB LabPlus, Auckland, New Zealand., Watson M; Department of Histopathology, ADHB LabPlus, Auckland, New Zealand., Punsoni M; Department of Pathology, University of Nebraska Medical Center, Omaha, NE, USA., Oviedo A; Department of Anatomic Pathology, Dalhousie University, Halifax, Nova Scotia, Canada., Gilani A; Department of Pathology, University of Colorado, Aurora, CO, USA., Kleinschmidt-DeMasters BK; Department of Pathology, University of Colorado, Aurora, CO, USA., Coss DJ; Division of Neuropathology, University of Virginia Health System, Charlottesville, VA, USA., Lopes MB; Division of Neuropathology, University of Virginia Health System, Charlottesville, VA, USA., Raffel C; Department of Neurological Surgery, University of California, San Francisco, CA, USA., Berger MS; Department of Neurological Surgery, University of California, San Francisco, CA, USA., Chang SM; Division of Neuro-Oncology, Department of Neurological Surgery, University of California, San Francisco, CA, USA., Reddy A; Division of Neuro-Oncology, Department of Neurological Surgery, University of California, San Francisco, CA, USA.; Department of Neurology, University of California, San Francisco, CA, USA., Ramani B; Department of Pathology, University of California, San Francisco, San Francisco, CA, USA., Ferris SP; Department of Pathology, University of California, San Francisco, San Francisco, CA, USA., Lee JC; Department of Pathology, University of California, San Francisco, San Francisco, CA, USA., Hofmann JW; Department of Pathology, University of California, San Francisco, San Francisco, CA, USA., Cho SJ; Department of Pathology, University of California, San Francisco, San Francisco, CA, USA., Horvai AE; Department of Pathology, University of California, San Francisco, San Francisco, CA, USA., Pekmezci M; Department of Pathology, University of California, San Francisco, San Francisco, CA, USA., Tihan T; Department of Pathology, University of California, San Francisco, San Francisco, CA, USA., Bollen AW; Department of Pathology, University of California, San Francisco, San Francisco, CA, USA., Rodriguez FJ; Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Ellison DW; Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA., Perry A; Department of Pathology, University of California, San Francisco, San Francisco, CA, USA.; Department of Neurological Surgery, University of California, San Francisco, CA, USA., Solomon DA; Department of Pathology, University of California, San Francisco, San Francisco, CA, USA.
Jazyk:	angličtina
Zdroj:	Brain pathology (Zurich, Switzerland) [Brain Pathol] 2021 Jul; Vol. 31 (4), pp. e12918. Date of Electronic Publication: 2021 Jan 28.
DOI:	10.1111/bpa.12918
Abstrakt:	Intracranial mesenchymal tumors with FET-CREB fusions are a recently described group of neoplasms in children and young adults characterized by fusion of a FET family gene (usually EWSR1, but rarely FUS) to a CREB family transcription factor (ATF1, CREB1, or CREM), and have been variously termed intracranial angiomatoid fibrous histiocytoma or intracranial myxoid mesenchymal tumor. The clinical outcomes, histologic features, and genomic landscape are not well defined. Here, we studied 20 patients with intracranial mesenchymal tumors proven to harbor FET-CREB fusion by next-generation sequencing (NGS). The 16 female and four male patients had a median age of 14 years (range 4-70). Tumors were uniformly extra-axial or intraventricular and located at the cerebral convexities (n = 7), falx (2), lateral ventricles (4), tentorium (2), cerebellopontine angle (4), and spinal cord (1). NGS demonstrated that eight tumors harbored EWSR1-ATF1 fusion, seven had EWSR1-CREB1, four had EWSR1-CREM, and one had FUS-CREM. Tumors were uniformly well circumscribed and typically contrast enhancing with solid and cystic growth. Tumors with EWSR1-CREB1 fusions more often featured stellate/spindle cell morphology, mucin-rich stroma, and hemangioma-like vasculature compared to tumors with EWSR1-ATF1 fusions that most often featured sheets of epithelioid cells with mucin-poor collagenous stroma. These tumors demonstrated polyphenotypic immunoprofiles with frequent positivity for desmin, EMA, CD99, MUC4, and synaptophysin, but absence of SSTR2A, myogenin, and HMB45 expression. There was a propensity for local recurrence with a median progression-free survival of 12 months and a median overall survival of greater than 60 months, with three patients succumbing to disease (all with EWSR1-ATF1 fusions). In combination with prior case series, this study provides further insight into intracranial mesenchymal tumors with FET-CREB fusion, which represent a distinct group of CNS tumors encompassing both intracranial myxoid mesenchymal tumor and angiomatoid fibrous histiocytoma-like neoplasms. (© 2020 The Authors. Brain Pathology published by John Wiley & Sons Ltd on behalf of International Society of Neuropathology.)
Databáze:	MEDLINE
Externí odkaz:	Plný text