title: Microsatellite instability indicative of defects in the major mismatch repair genes is rare in patients with B-cell chronic lymphocytic leukemia: Evaluation with disease stage and family history.
abstract: A possible role for DNA mismatch repair defects and microsatellite instability (MSI) in the pathogenesis of a number of B-cell lymphoproliferative disorders has recently been debated. To gain further insight into the impact of MSI on B-CLL, we evaluated samples from a series of 982 patients using the mono-satellite markers BAT25 and BAT26, which are highly sensitive in demonstrating classical mismatch repair (MMR) deficiency. Only 1% of cases displayed MSI and this was not correlated with stage of disease or family history of B-CLL. A sub-polymorphic germline variant of BAT25 was identified in one familial case, which was also detected in the patient's affected brother. In conclusion, our study demonstrates that MSI does not have a prominent role in the pathogenesis of B-CLL.
authors.affiliation: Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK.
authors.forename: G S
authors.initials: GS
authors.lastname: Sellick
authors.forename: S J
authors.initials: SJ
authors.lastname: Lubbe
authors.forename: E
authors.initials: E
authors.lastname: Matutes
authors.forename: D
authors.initials: D
authors.lastname: Catovsky
authors.forename: R S
authors.initials: RS
authors.lastname: Houlston
mesh_terms: D000368:Aged; D014408:Biomarkers, Tumor / Q000235:genetics; D053843:DNA Mismatch Repair; D004260:DNA Repair / Q000235:genetics*; D005192:Family Health; D005260:Female; D005819:Genetic Markers; D006801:Humans; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000209:etiology / Q000235:genetics*; D008297:Male; D053842:Microsatellite Instability; D018895:Microsatellite Repeats; D008875:Middle Aged
chemical_list: C516892:BAT26 microsatellite DNA; D014408:Biomarkers, Tumor; D005819:Genetic Markers