Intracranial myxoid mesenchymal tumor with EWSR1-CREB1 fusion

Sasha Libbrecht; Joni Van Der Meulen; Veerle Mondelaers; Edward Baert; Caroline Vande Walle; Jo Van Dorpe; David Creytens

doi:10.1016/j.prp.2020.153239

Intracranial myxoid mesenchymal tumor with EWSR1-CREB1 fusion

Pathol Res Pract. 2020 Dec;216(12):153239. doi: 10.1016/j.prp.2020.153239. Epub 2020 Oct 2.

Authors

Sasha Libbrecht¹, Joni Van Der Meulen², Veerle Mondelaers³, Edward Baert⁴, Caroline Vande Walle⁵, Jo Van Dorpe⁶, David Creytens⁷

Affiliations

¹ Department of Pathology, Ghent University Hospital, Ghent University, Ghent, Belgium.
² Center for Medical Genetics, Ghent University Hospital, Ghent University, Ghent, Belgium; CRIG, Cancer Research Institute Ghent, Ghent University Hospital, Ghent University, Ghent, Belgium.
³ CRIG, Cancer Research Institute Ghent, Ghent University Hospital, Ghent University, Ghent, Belgium; Department of Pediatric Hematology-Oncology and Stem Cell Transplantation, Ghent University Hospital, Ghent University, Ghent, Belgium.
⁴ Department of Neurosurgery, Ghent University Hospital, Ghent University, Ghent, Belgium.
⁵ Department of Radiology, Ghent University Hospital, Ghent University, Ghent, Belgium.
⁶ Department of Pathology, Ghent University Hospital, Ghent University, Ghent, Belgium; CRIG, Cancer Research Institute Ghent, Ghent University Hospital, Ghent University, Ghent, Belgium.
⁷ Department of Pathology, Ghent University Hospital, Ghent University, Ghent, Belgium; CRIG, Cancer Research Institute Ghent, Ghent University Hospital, Ghent University, Ghent, Belgium. Electronic address: [email protected].

PMID: 33080563
DOI: 10.1016/j.prp.2020.153239

Abstract

Myxoid mesenchymal tumor with predilection for intracranial location harboring EWSR1 fusions with CREB family transcription factors is a recently described and exceedingly rare neoplasm. While some debate still exists whether this is a true separate entity or a myxoid variant of angiomatoid fibrous histiocytoma, these tumors still deserve separate attention due to localization, fairly distinct histology and higher incidence in the pediatric population. Data regarding outcome of these neoplasms are still sparse in medical literature. We report a case of an intracranial myxoid tumor with EWSR1-CREB1 fusion in a 14-year-old girl.

Keywords: Angiomatoid fibrous histiocytoma; CREB; EWSR1; Fluorescence in situ hybridization; Intracranial myxoid mesenchymal tumor.

Publication types

Case Reports

MeSH terms

Adolescent
Biomarkers, Tumor / genetics*
Brain Neoplasms / diagnostic imaging
Brain Neoplasms / genetics*
Brain Neoplasms / pathology
Diagnosis, Differential
Female
Gene Fusion*
Histiocytoma, Malignant Fibrous / diagnostic imaging
Histiocytoma, Malignant Fibrous / genetics*
Histiocytoma, Malignant Fibrous / pathology
Humans
In Situ Hybridization, Fluorescence
Oncogene Proteins, Fusion / genetics*
Predictive Value of Tests

Substances

Biomarkers, Tumor
EWSR1-CREB1 fusion protein, human
Oncogene Proteins, Fusion

Supplementary concepts

Histiocytoma, Angiomatoid Fibrous