Acute myeloid leukemia as the first hematologic manifestation of fanconi anemia

Arleen D. Auerbach, Michael A. Weiner, Dorothy Warburton, Kwame Yeboa, Li Lu, Hal E. Broxmeyer

Research output: Contribution to journalArticle

36 Scopus citations


A six‐year‐old girl with Fanconi anemia (FA) developed acute myeloid leukemia (AML) as the first hematologic manifestation of the syndrome. She remains in remission 18 mo after diagnosis although her management is complicated by unusual sensitivity to chemotherapeutic agents. Marrow cells studied prior to initiation of leukemia therapy showed increased chromosome breakage and an abnormal clone in which a number 7 and a number 8 chromosome were replaced by two marker chromosomes. During the present remission her cultured lymphocytes, bone marrow cells, and fibroblasts showed increased “spontaneous” chromosome breakage as well as enhanced sensitivity to the clastogenic effect of the difunctional alkylating agent diepoxybutane (DEB), features characteristic of FA. Eight months into remission 50% of her marrow cells comprised an abnormal clone, which was monosomic for the number 7 chromosome but had both copies of number 8; in addition a variable number of unique marker chromosomes were present in clonal as well as nonclonal cells. This same marrow sample, upon culture, showed an abnormal growth pattern of CFU‐GM, absence of detectable CFU‐GEMM and BFUe, non‐responsiveness of CFU‐GM to inhibition by acidic isoferritins, increased bone marrow acidic isoferritin inhibitory activity, and absence of detectable bone marrow cell‐derived GM‐CSF. The implications of these findings to leukemogenesis in FA are discussed.

Original languageEnglish (US)
Pages (from-to)289-300
Number of pages12
JournalAmerican Journal of Hematology
Issue number3
StatePublished - May 1982
Externally publishedYes


  • Fanconi anemia
  • colony formation
  • cytogenetics
  • inhibition activity
  • leukemia

ASJC Scopus subject areas

  • Hematology

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