Intracranial myxoid mesenchymal tumor with EWSR1-CREB1 gene fusion: a case report and literature review

Brain Tumor Pathol. 2020 Apr;37(2):76-80. doi: 10.1007/s10014-020-00359-x. Epub 2020 Mar 25.

Abstract

Intracranial myxoid mesenchymal tumors harboring EWSR1 fusions with CREB transcriptional factor gene families were recently described in several case reports and a few case series and this tumor closely resembles the myxoid variant of angiomatoid fibrous histiocytoma. We herein present an intracranial mesenchymal myxoid tumor arising in the third ventricle of a middle-aged woman. The tumor displayed prominent myxoid features consisting of mildly atypical oval to round cells, arranged in reticular and cord-like structures, with starburst-like amianthoid fibers, whereas it lacked pseudoangiomatoid spaces, pseudocapsules and lymphoid cuffing. Immunophenotypically, tumor cells were positive for EMA, desmin, and ALK (focal). EWSR1 and CREB1 rearrangements were identified using FISH assay. The proliferation index was low. It is currently uncertain whether these myxoid tumors represent a variant of angiomatoid fibrous histiocytoma or a novel tumor entity.

Keywords: CREB; EWSR1; Intracranial; Myxoid tumor.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Brain Neoplasms / genetics*
  • Brain Neoplasms / pathology
  • Cyclic AMP Response Element-Binding Protein / genetics*
  • Female
  • Gene Fusion*
  • Gene Rearrangement
  • Histiocytoma, Malignant Fibrous / genetics*
  • Histiocytoma, Malignant Fibrous / pathology
  • Humans
  • Middle Aged
  • RNA-Binding Protein EWS / genetics*

Substances

  • CREB1 protein, human
  • Cyclic AMP Response Element-Binding Protein
  • EWSR1 protein, human
  • RNA-Binding Protein EWS

Supplementary concepts

  • Histiocytoma, Angiomatoid Fibrous