Aim-To assess whether p53 gene mutation is important in the pathogenes
is and progression of multiple myeloma. Methods-Thirty eight DNA sampl
es (derived predominantly from bone marrow) obtained from 31 patients
with multiple myeloma were examined for mutations in p53 exons 5-9 by
polymerase chain reaction single strand conformation polymorphism. Twe
nty three samples were analysed at the time of diagnosis (one patient
had plasma cell leukaemia), three in plateau phase, and 12 at relapse
(one plasma cell leukaemia and one extramedullary relapse). Results-On
e p53 mutation was detected in this group of patients (3.2%). This was
seen in the diagnostic bone marrow sample of a 35 year old man with s
tage IIA disease and occurred in exon 6 as a result of a silent A to G
transition at codon 213 (CGA --> CGG), a polymorphism that has been r
eported in about 3% of breast and lung tumours. Conclusions-p53 gene m
utations are rare events in multiple myeloma and would seem to be of l
imited value as a prognostic factor.