Fanconi anemia: Myelodysplasia as a predictor of outcome

The adverse potential of the development of myelodysplastic syndrome (MDS) in Fanconi anemia (FA) tvas examined in a retrospective study of 41 FA pati ents who had bone marrow morphology and chromosomes reviewed by a single gr oup. Thirty-three patients had adequate cytogenetic studies, and 16 (48%) h ad one or more abnormal studies: nine initially, and seven more on follow-u p. Cytogenetic clonal variation was frequent, including disappearance of cl ones, clonal evolution, and appearance of new clones. The estimated five-ye ar survival with a cytogenetic clone is 0.40, compared to 0.94 without a cl one. Morphologic myelodysplasia (MDS), independent of a cytogenetic clone, was found in 13/41 patients (32%). The estimated five-year survival with MD S is 0.09, versus 0.92 without MDS. Leukemia developed in three patients wh ose 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 cla ssical cytogenetics in prediction of an adverse outcome. (C) Elsevier Scien ce Inc., 2000. All rights reserved.