title: Fanconi anemia: myelodysplasia as a predictor of outcome.
abstract: The adverse potential of the development of myelodysplastic syndrome (MDS) in Fanconi anemia (FA) was examined in a retrospective study of 41 FA patients who had bone marrow morphology and chromosomes reviewed by a single group. Thirty-three patients had adequate cytogenetic studies, and 16 (48%) had one or more abnormal studies: nine initially, and seven more on follow-up. Cytogenetic clonal variation was frequent, including disappearance of clones, clonal evolution, and appearance of new clones. The estimated five-year survival with a cytogenetic clone is 0.40, compared to 0.94 without a clone. Morphologic myelodysplasia (MDS), independent of a cytogenetic clone, was found in 13/41 patients (32%). The estimated five-year survival with MDS is 0.09, versus 0.92 without MDS. Leukemia developed in three patients whose initial cytogenetic clones prior to leukemia were t(1;18), t(5;22) and monosomy 7; the one with t(1;18) also had MDS. Our results focus on marrow morphology, and suggest that morphologic MDS may be more important than classical cytogenetics in prediction of an adverse outcome.
authors.affiliation: Division of Pediatric Hematology/Oncology, University of Texas Medical Branch, Galveston, TX, USA.
authors.forename: B P
authors.initials: BP
authors.lastname: Alter
authors.forename: J P
authors.initials: JP
authors.lastname: Caruso
authors.forename: R A
authors.initials: RA
authors.lastname: Drachtman
authors.forename: T
authors.initials: T
authors.lastname: Uchida
authors.forename: G V
authors.initials: GV
authors.lastname: Velagaleti
authors.forename: M T
authors.initials: MT
authors.lastname: Elghetany
mesh_terms: D000293:Adolescent; D000328:Adult; D001853:Bone Marrow / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002999:Clone Cells; D005199:Fanconi Anemia / Q000150:complications* / Q000235:genetics / Q000401:mortality* / Q000473:pathology; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D009190:Myelodysplastic Syndromes / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D011379:Prognosis; D012189:Retrospective Studies; D016019:Survival Analysis