Medulloblastoma as a first presentation of fanconi anemia

J Pediatr Hematol Oncol. 2004 Jan;26(1):52-5. doi: 10.1097/00043426-200401000-00016.

Abstract

Fanconi anemia is a chromosomal instability syndrome associated with certain congenital abnormalities, defective hemopoiesis, and an increased risk of developing acute myeloid leukemia and some solid tumors. The diagnosis can be made at birth if congenital abnormalities are present but is often made in childhood when hematologic complications develop. The authors report a case of Fanconi anemia diagnosed in a child with no congenital abnormalities and normal bone marrow who first presented with a cerebellar medulloblastoma. The authors discuss diagnostic and therapeutic implications for such malignancies in Fanconi anemia.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Bone Neoplasms / etiology
  • Bone Neoplasms / secondary
  • Cafe-au-Lait Spots
  • Cerebellar Neoplasms / etiology*
  • Cerebellar Neoplasms / pathology
  • Cerebellar Neoplasms / therapy
  • Child, Preschool
  • Chromosome Breakage
  • Fanconi Anemia / complications*
  • Fanconi Anemia / diagnosis
  • Fanconi Anemia / therapy
  • Fatal Outcome
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Medulloblastoma / etiology*
  • Medulloblastoma / pathology
  • Medulloblastoma / therapy
  • Recurrence