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Mutational analysis of the tumour suppressor gene MMAC1/PTEN in malignant myeloid disorders
Author(s) -
Aggerholm Anni,
Grønbæk Kirsten,
Guldberg Per,
Hokland Peter
Publication year - 2000
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1034/j.1600-0609.2000.90181.x
Subject(s) - pten , cancer research , exon , myeloid , biology , tumor suppressor gene , gene , myelodysplastic syndromes , mutation , genetics , immunology , bone marrow , carcinogenesis , pi3k/akt/mtor pathway , apoptosis
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). We identified an intragenic deletion including MMAC1/PTEN exons 2–5 in an acute myelocytic leukaemia cell line, HL‐60 blast, and an insertion of four nucleotides in exon 5 in an acute monocytic leukaemia cell line, U937. Analysis of 59 patients with acute myeloid leukaemia (AML), 26 patients with myelodysplastic 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 genetic aberrations in myeloid leukaemia.