Variable response to the diepoxybutane test in two dizygotic twins with Fanconi's anemia and flow cytometry for diagnosis confirmation

Pediatr Hematol Oncol. 1998 Jan-Feb;15(1):45-54. doi: 10.3109/08880019809009507.


Fanconi's anemia (FA) is a rare, genetically heterogeneous, autosomal recessive disorder characterized by bone marrow failure, congenital abnormalities, chromosome instability, and increased susceptibility to neoplasia. Congenital abnormalities vary in location and in severity and not all patients are affected. Although the primary defect of FA is unknown, hypersensitivity to the clastogenic effect of agents that introduce cross-links in the DNA, such as diepoxybutane (DEB), is a marker of the FA phenotype in patients suffering from aplastic anemia without the physical characteristics of the syndrome and, conversely, in cases with abnormalities in the preanemic phase. We report the case of two dizygotic twins suffering from FA with discordant hematologic data. The DEB test repeated several times in various laboratories yielded conflicting results, whereas cell cycle studies by flow cytometry revealed a pattern typical of FA patients. Moreover, the flow cytometric pattern was correlated with the clinical severity of the disease.

Publication types

  • Case Reports

MeSH terms

  • Adrenal Cortex Hormones / therapeutic use
  • Androgens / therapeutic use
  • Blood Transfusion
  • Cell Cycle
  • Child
  • Chromosome Aberrations
  • Cross-Linking Reagents
  • Diseases in Twins*
  • Epoxy Compounds*
  • Erythropoietin / therapeutic use
  • Fanconi Anemia / diagnosis*
  • Fanconi Anemia / genetics
  • Fanconi Anemia / therapy
  • Flow Cytometry / methods
  • Humans
  • Lymphocytes / immunology
  • Lymphocytes / pathology
  • Male
  • Prednisone / therapeutic use
  • Twins, Dizygotic*


  • Adrenal Cortex Hormones
  • Androgens
  • Cross-Linking Reagents
  • Epoxy Compounds
  • Erythropoietin
  • diepoxybutane
  • Prednisone