Microsatellite instability occurs in defined subsets of patients with acute myeloblastic leukaemia

• Published in: British journal of haematology Vol. 114; no. 2; pp. 307 - 312
• Main Authors: Das‐Gupta, Emma P., Seedhouse, Claire H., Russell, Nigel H.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Science Ltd 01-08-2001; Blackwell; Blackwell Publishing Ltd
• Subjects: acute myeloblastic leukaemia; Adolescent; Adult; Age Factors; Aged; Aged, 80 and over; Biological and medical sciences; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, Pair 5; Chromosomes, Human, Pair 7; cytogenetics; Hematologic and hematopoietic diseases; Hematology; Humans; Leukemia, Myeloid, Acute - chemically induced; Leukemia, Myeloid, Acute - drug therapy; Leukemia, Myeloid, Acute - genetics; Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis; Male; Medical sciences; microsatellite instability; Microsatellite Repeats - genetics; Middle Aged; mismatch repair; Mutation; mutator phenotype; Polymerase Chain Reaction - methods; Risk Factors; Human; Acute; Fluorescence; Exploration; Malignant hemopathy; Polymerase chain reaction; Phenotype; Microsatellite DNA; Cytogenetics; Instability; Mutation; Molecular biology; Tumor suppressor gene; Acute myelocytic leukemia
• ISSN: 0007-1048; 1365-2141
• DOI: 10.1046/j.1365-2141.2001.02920.x

Using a sensitive fluorescent‐polymerase chain reaction technique we looked for microsatellite instability (MSI) as functional evidence of mismatch repair defects in 71 cases of acute myeloblastic leukaemia (AML). MSI was assessed at 11 loci in matched leukaemic and constitutional DNA. Nine out of 71 patients (13%) were found to have MSI. Four of these patients had therapy‐related leukaemia and the remaining five were all over the age of 60 years. There was a high incidence of adverse‐risk cytogenetics in the patients with MSI, including abnormalities of chromosomes 5 and/or 7. Of the nine cases of t‐AML included in this study, four (44%) had MSI. MSI was also seen in five of 51 cases (10%) over the age of 60 years but not in any cases under the age of 60 years with de novo AML. Using a sensitive assay, our results suggest that MSI occurs in two subgroups of patients with AML: those with t‐AML and the elderly (> 60 years), but is rare in younger patients.