Intracranial Angiomatoid Fibrous Histiocytoma with EWSR1-CREB Family Fusions: A Report of 2 Pediatric Cases

World Neurosurg. 2019 Jun:126:113-119. doi: 10.1016/j.wneu.2019.02.107. Epub 2019 Mar 2.

Abstract

Background: Intracranial angiomatoid fibrous histiocytomas (AFHs) are very rare tumors. Histologically, classical cases have been reported exclusively in adults, with myxoid variants identified only in children. Here, we report the clinical presentation, treatment, biopsy, and molecular test results for 2 children with classical intracranial AFH and combine this with a literature review of published intracranial AFH and AFH-like cases.

Case description: Two young girls presenting with abnormal neurologic signs, received diagnoses of intracranial AFHs from histopathologic analysis. No myxoid features were identified. Fluorescence in situ hybridization and reverse transcriptase polymerase chain reaction testing demonstrated EWS1-ATF1 and EWS1-CREM gene fusions, respectively, verified by Sanger sequencing. Both patients underwent surgery only. The first child experienced local recurrence 5 years from initial surgery. Following a further complete resection, this patient has remained recurrence free over a subsequent 6-year follow-up period. The second patient has recently experienced local multinodular recurrence 28 months after initial surgery and is awaiting surgical re-excision. No additional chemotherapy/radiotherapy has been administered to either patient.

Conclusions: This report describes the first 2 cases of nonmyxoid intracranial AFH in children; confirmed by molecular analysis. Our results suggest that a tumor spectrum incorporating classical and myxoid intracranial AFHs can occur in children and that gross total resection represents the treatment strategy of choice at diagnosis or following recurrence.

Keywords: Angiomatoid; Fibrous; Histiocytoma; Intracranial; Pediatric.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Brain Neoplasms / diagnostic imaging
  • Brain Neoplasms / genetics*
  • Brain Neoplasms / pathology
  • Brain Neoplasms / surgery
  • Child
  • Cyclic AMP Response Element-Binding Protein / genetics*
  • Female
  • Histiocytoma, Malignant Fibrous / diagnostic imaging
  • Histiocytoma, Malignant Fibrous / genetics*
  • Histiocytoma, Malignant Fibrous / pathology
  • Histiocytoma, Malignant Fibrous / surgery
  • Humans
  • Magnetic Resonance Imaging
  • Oncogene Fusion*
  • RNA-Binding Protein EWS / genetics*

Substances

  • Cyclic AMP Response Element-Binding Protein
  • RNA-Binding Protein EWS

Supplementary concepts

  • Histiocytoma, Angiomatoid Fibrous