title: Acute lymphoblastic leukemia in a child with Fanconi's anaemia.
abstract: Fanconi anaemia (FA) is an autosomal recessive inherited disorder with progressive bone marrow failure, associated congenital malformation and solid and haematological malignancies. Acute myeloid leukemia is the commonest haematological malignancy followed by myelodysplastic syndrome in children with FA. FA transformed into acute lymphoblastic leukemia (ALL) is a rare phenomenon and one of the rarest haematological malignancies associated with this disorder. We are reporting a 13 years old girl with FA and positive chromosomal breakage. She required regular blood product transfusion. She was planned for haematopoietic stem cell transplantation (HSCT) but the sibling-matched donor was found to have chromosomal breaks as well. Later on, her peripheral smear showed blast cell. Bone marrow showed pre-B ALL. She was started on chemotherapy but died shortly due to complications of the treatment. For this rare condition conservative management is indeed essential, however, safe and appropriate chemotherapy regimen is needed.
authors: Department of Paediatrics and Child Health, Aga Khan University Hospital, Karachi, Pakistan. naureen.mushtaq@aku.edu
authors: Naureen
authors: N
authors: Mushtaq
authors: Rabia
authors: R
authors: Wali
authors: Zehra
authors: Z
authors: Fadoo
authors: Ali Faisal
authors: AF
authors: Saleem
mesh_terms: D000293:Adolescent; D001853:Bone Marrow / Q000473:pathology; D019457:Chromosome Breakage; D005199:Fanconi Anemia / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D017809:Fatal Outcome; D005260:Female; D005434:Flow Cytometry; D006801:Humans; D015452:Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D035583:Rare Diseases