Blood, Vol. 96 No. 3 (August 1), 2000:
pp. 859-863
Constitutive elevation of serum alpha-fetoprotein in Fanconi
anemia
Bruno Cassinat,
Philippe Guardiola,
Sylvie Chevret,
Marie-Hélène Schlageter,
Marie-Elisabeth Toubert,
Jean-Didier Rain, and
Eliane Gluckman
From the Nuclear Medicine Department, the Department of
Bio-Statistics, and the Hematology Bone Marrow Transplantation
Department, Saint-Louis Hospital, Paris, France.
The diagnosis of Fanconi anemia (FA) is based on the
association of congenital malformations, bone marrow failure syndrome, and hypersensitivity to chromosomal breaks induced by cross-linking agents. In the absence of typical features, the diagnosis is not easy
to establish because there is no simple and cost-effective test; thus,
investigators must rely on specialized analyses of chromosomal breaks.
Because we observed elevated serum alpha-fetoprotein (sAFP) levels in
FA patients, we investigated this parameter as a possible diagnostic
tool. Serum AFP levels from 61 FA patients and 27 controls with
acquired aplastic anemia or other inherited bone marrow failure
syndromes were analyzed using a fluoroimmunoassay based on
the TRACE technology. Serum AFP levels were significantly more elevated
(P < .0001) in FA than in non-FA aplastic patients. In the
detection of FA patients among patients with bone marrow failure
syndromes, this assay had a sensitivity of 93% and a specificity of
100%. This elevation was not explained by liver abnormalities. Levels
of sAFP were unchanged during at least 4 years of follow-up, and
allogeneic bone marrow transplantation did not modify sAFP levels.
Three of 4 FA patients with mosaicism as well as 5 of 6 FA patients
with myelodysplastic syndrome were detected by this test. Heterozygous
parents of FA patients had normal sAFP levels. Measurement of sAFP
levels with this automated, cost-effective, and reproducible
fluoroimmunoassay could be proposed for the preliminary diagnosis of FA
whenever this disorder is suspected.
