Medulloblastoma as a first presentation of fanconi anemia.
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.
Tischkowitz
Marc D
MD
Clinical Genetics Unit, Institute of Child Health, Great Ormond Street Hospital, London, United Kingdom. mtischkowitz@doctors.org.uk
Chisholm
Julia
J
Gaze
Mark
M
Michalski
Antony
A
Rosser
Elisabeth M
EM
D001859:Bone Neoplasms / Q000209:etiology / Q000556:secondary; D019080:Cafe-au-Lait Spots; D002528:Cerebellar Neoplasms / Q000209:etiology* / Q000473:pathology / Q000628:therapy; D002675:Child, Preschool; D019457:Chromosome Breakage; D005199:Fanconi Anemia / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D017809:Fatal Outcome; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008527:Medulloblastoma / Q000209:etiology* / Q000473:pathology / Q000628:therapy; D012008:Recurrence