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Microsatellite instability analysis in typical and progressed mantle cell lymphoma and B-cell chronic lymphocytic
L Sanz-Vaqué1, D Colomer, F Bosch
1Department of Hematology, Hospital Clinic, Universitat de Barcelona, Villarroel 170, 08036 Barcelona, Spain.
Background And Objectives:
Microsatellite instability (MSI) is characterized by tumor-associated alterations in the germline size of microsatellite repeats caused by a reduced efficacy of the DNA mismatch repair machinery. The aim of this study was to investigate the presence of MSI in a number of cases of indolent and aggressive mantle cell lymphoma (MCL) and B-cell chronic lymphocytic leukemia (B-CLL) to determine its possible role in the initial development and progression of these disorders.
Design And Methods:
We examined the presence of MSI in 28 B-CLL, 24 typical and 4 transformed B-CLL (Richter's syndrome) and 29 MCL, 19 typical and 10 blastoid variants by using a panel of 10 microsatellite markers and analyzed them using an AbiPrism 310 DNA sequencer. Fisher's exact test was used to compare categorical variables and Mann-Whitney's U-test for continuous variables.
Results:
MSI alterations were not observed in any case of MCL or Richter's syndrome and in only three (13%) patients with typical B-CLL. Two of these patients also had loss of heterozygosity in one of the 10 sites examined. These patients presented with a more advanced stage, diffuse bone marrow involvement, and poorer performance status than patients without these alterations.
Interpretation And Conclusions:
These findings indicate that MSI is not involved in the pathogenesis or progression of B-CLL and MCL but may appear in a small subset of patients with advanced B-CLL.