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Blood, Vol. 95 No. 6 (March 15), 2000:
pp. 2093-2097
Cytogenetic abnormalities in the myelodysplastic syndromes and
occupational or environmental exposure
R. R. West,
D. A. Stafford,
A. D. White,
D. T. Bowen, and
R. A. Padua
From the University of Wales College of Medicine, Cardiff.
Patients with myelodysplastic syndromes (MDS) have high
frequencies of cytogenetic abnormalities and evidence is accumulating of associations between exposure history and primary MDS. The objective
of this article is to examine the relationship between histories of
occupational or environmental exposure and presence of cytogenetic
abnormalities. A case control study of MDS patients estimated lifetime
exposure to more than 90 potential hazards in 400 age, sex, and area of
residence matched patient and control pairs. A parallel cytogenetics
study undertaken at time of diagnosis, independently of any knowledge
of exposure history, identified 75 cytogenetically abnormal and 139 normal (186 not studied). Odds ratios of MDS patients and their matched
controls were compared for 3 groups: cytogenetically abnormal, normal,
and not known. The odds ratios for all exposures combined were possibly
higher among cytogenetically abnormal 2.0 (95% confidence interval
0.8-5.9) than among normal 1.0 (0.6-1.8). This pattern was observed for exposure to semimetals, abnormal 4.0 (0.4-195.1) and normal 0.5 (0.1-1.0) and inorganic dusts, 1.6 (0. 6-3.8) and 0.4 (0.1-1.4) respectively. The pattern was principally in abnormalities in chromosomes 5 and 7. For organic chemicals and radiation, the odds
ratios for both cytogenetically abnormal and normal were marginally
raised: organic 1.8 (0.6-6.0) and 1.3 (0.6-2.9), respectively, and
radiation 1.7 (0.5-5.6) and 1.3 (0.4-4.7) respectively. For radiation,
abnormalities were mostly in chromosome 8. This study of association
between exposures and cytogenetics in primary MDS complements those
previously reported in secondary MDS and may provide some insight into
pathogenetic mechanisms that lead to development of MDS.

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