Thirteen patients with acute myelocytic leukemia (AML) and with clonal aber
rations involving chromosome 3 were studied. Three patients had monosomy 3,
four had trisomy 3, and six had structural aberrations of chromosome 3, In
the majority of cases chromosome 3 aberrations were parts of complex karyo
types, but in two patients, the abnormalities appeared as single aberration
s, one as an interstitial deletion del(3)(p13p21) and the other as monosomy
3. All breakpoints of chromosome 3 were found in the fragile site regions
3p14.2, 3q21 and 3q26-27, All patients with monosomy 3 or structural aberra
tions of chromosome 3 and one of the four patients with trisomy 3 had been
exposed to mutagens, such as occupational exposures to organic solvents and
/or petroleum products or treatments with irradiation or antineoplastic age
nts. The association among mutagen exposure, structural chromosome 3 aberra
tions and fragile sites in AML may indicate that targeting of the mutagens
to these sites is of importance for the etiology of the disease.