A. Aggerholm et al., Mutational analysis of the tumour suppressor gene MMAC1/PTEN in malignant myeloid disorders, EUR J HAEMA, 65(2), 2000, pp. 109-113
The candidate tumour suppressor gene MMAC1/PTEN located at chromosome 10q23
.3 has been reported to be frequently mutated in a number of solid tumours.
Less is known about its status in leukaemia. In the present study we first
analysed 13 leukaemia cell lines for mutations and homozygous deletions in
MMAC1/PTEN using PCR and denaturing gradient gel electrophoresis (DGGE). W
e identified an intragenic deletion including MMAC1/PTEN exons 2-5 in an ac
ute myelocytic leukaemia cell line, HL-60 blast, and an insertion of four n
ucleotides in exon 5 in an acute monocytic leukaemia cell line, U937. Analy
sis of 59 patients with acute myeloid leukaemia (AML), 26 patients with mye
lodysplastic syndromes (MDS) and 10 patients with chronic myeloid leukaemia
(CML) only revealed a polymorphic base substitution in codon 44 in one AML
patient, suggesting that mutations in the MMAC1/PTEN gene are infrequent g
enetic aberrations in myeloid leukaemia.