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 |
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Authors: | Sellick G S Lubbe S J Matutes E Catovsky D Houlston R S |
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Affiliation: | a Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UKb Section of Haemato-Oncology, Institute of Cancer Research, Sutton, Surrey, UK |
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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. |
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Keywords: | Microsatellite instability (MSI) mismatch repair (MMR) chronic B-cell lymphocytic leukemia (B-CLL) |
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