Metachronous multifocal desmoid-type fibromatoses along the neuraxis with adenomatous polyposis syndrome

J Neurosurg Pediatr. 2010 Oct;6(4):372-6. doi: 10.3171/2010.8.PEDS1015.

Abstract

Desmoid-type fibromatosis, aggressive fibromatosis, or desmoid tumor is an uncommon benign but locally aggressive fibroblastic lesion. Although intraabdominal desmoid-type fibromatoses are well described in association with adenomatous polyposis syndrome, their occurrence along the neuraxis is extremely rare. The authors report the case of a 14-year-old boy with metachronous intracranial and spinal desmoid-type fibromatoses with preceding medulloblastoma. He was ultimately diagnosed with adenomatous polyposis syndrome. This is the first reported case of spinal desmoid-type fibromatosis in association with adenomatous polyposis syndrome. The identification of an underlying genetic instability allows for screening to detect lesions and institute measures to avoid preventable mortality from nonneurological tumors.

Publication types

  • Case Reports

MeSH terms

  • Adenomatous Polyposis Coli / genetics
  • Adenomatous Polyposis Coli / pathology*
  • Adolescent
  • Cerebellar Neoplasms / genetics
  • Cerebellar Neoplasms / pathology
  • Cerebral Ventricle Neoplasms / genetics
  • Cerebral Ventricle Neoplasms / pathology*
  • Family Health
  • Fibromatosis, Aggressive / genetics
  • Fibromatosis, Aggressive / pathology*
  • Genes, APC*
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Medulloblastoma / genetics
  • Medulloblastoma / pathology
  • Neoplasms, Multiple Primary / genetics
  • Neoplasms, Multiple Primary / pathology*
  • Pedigree