Acute myeloid leukemia as the first hematologic manifestation of fanconi anemia

A. D. Auerbach, M. A. Weiner, D. Warburton, K. Yeboa, L. Lu, Hal Broxmeyer

Research output: Contribution to journalArticle

36 Citations (Scopus)

Abstract

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
Volume12
Issue number3
DOIs
StatePublished - 1982
Externally publishedYes

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Fanconi Anemia
Acute Myeloid Leukemia
Bone Marrow
Chromosome Breakage
Granulocyte-Macrophage Progenitor Cells
Genetic Markers
Bone Marrow Cells
Clone Cells
Myeloid Progenitor Cells
Chromosomes, Human, Pair 8
Chromosomes, Human, Pair 7
Alkylating Agents
Granulocyte-Macrophage Colony-Stimulating Factor
Leukemia
Fibroblasts
Lymphocytes
Growth
acidic isoferritin

ASJC Scopus subject areas

  • Hematology

Cite this

Acute myeloid leukemia as the first hematologic manifestation of fanconi anemia. / Auerbach, A. D.; Weiner, M. A.; Warburton, D.; Yeboa, K.; Lu, L.; Broxmeyer, Hal.

In: American Journal of Hematology, Vol. 12, No. 3, 1982, p. 289-300.

Research output: Contribution to journalArticle

Auerbach, A. D. ; Weiner, M. A. ; Warburton, D. ; Yeboa, K. ; Lu, L. ; Broxmeyer, Hal. / Acute myeloid leukemia as the first hematologic manifestation of fanconi anemia. In: American Journal of Hematology. 1982 ; Vol. 12, No. 3. pp. 289-300.
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