Fanconi anemia: Myelodysplasia as a predictor of outcome

Blanche P. Alter, Jared P. Caruso, Richard A. Drachtman, Tatsuo Uchida, Gopalrao V.N. Velagaleti, M. Tarek Elghetany

Research output: Contribution to journalArticlepeer-review

87 Scopus citations


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. (C) Elsevier Science Inc., 2000.

Original languageEnglish (US)
Pages (from-to)125-131
Number of pages7
JournalCancer Genetics and Cytogenetics
Issue number2
StatePublished - Mar 2000

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Cancer Research


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