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

G. S. Sellick, S. J. Lubbe, E. Matutes, D. Catovsky, R. S. Houlston*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)1320-1322
Number of pages3
JournalLeukemia and Lymphoma
Volume48
Issue number7
DOIs
StatePublished - Jul 1 2007

Keywords

  • Chronic B-cell lymphocytic leukemia (B-CLL)
  • Microsatellite instability (MSI)
  • Mismatch repair (MMR)

ASJC Scopus subject areas

  • Hematology
  • Oncology
  • Cancer Research

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