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.

journal_name

Leuk Lymphoma

journal_title

Leukemia & lymphoma

authors

Sellick GS,Lubbe SJ,Matutes E,Catovsky D,Houlston RS

doi

10.1080/10428190701361844

subject

Has Abstract

pub_date

2007-07-01 00:00:00

pages

1320-2

issue

7

eissn

1042-8194

issn

1029-2403

pii

780395362

journal_volume

48

pub_type

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