Karyotypic studies of bone marrow were conducted in 79 previously untr
eated patients with multiple myeloma who received a standard programme
of chemotherapy. An abnormal karyotype was observed in 46% of patient
s, virtually all showing multiple abnormalities consistent with a long
period of preclinical clonal evolution. Patients with an abnormal pat
tern showed various aberrations with hyperdiploidy in 64%, pseudodiplo
idy in 5% and hypodiploidy in 31%. The number of chromosomes affected
ranged from two to 19 (median 10), with at least one trisomy in 83%, o
ne monosomy in 75%, and one translocation in 42% of patients, Lymphoma
-like karyotypes were present in 17% of patients with an abnormality b
ut were not associated with atypical clinical features, such as an ext
ramedullary mass, leukaemia, or increased serum lactate dehydrogenase.
Monosomy or deletion of chromosome 13 was present in 47% of patients
with an abnormal pattern, who lived for a shorter duration (median 10
months) than patients with other abnormalities (median 34 months) or w
ith diploidy (median 35 months). The cause of the short survival of pa
tients with monosomy or deletion of chromosome 13 was not clear, but f
urther studies on the relationship with specific oncogenes are indicat
ed.