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Updated: Aug 10, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Microsatellite instability is rare in B-cell non-Hodgkin's lymphomas
B Gamberi1, G Gaidano, N Parsa
1Department of Pathology, College of Physicians and Surgeons, Columbia University, New York 10032, USA.
Microsatellite instability (MSI), a DNA repair defect, was investigated in non-Hodgkin
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Microsatellite instability (MSI) is a hallmark of DNA mismatch repair deficiency and a common feature in various cancers.
- The role of MSI in the pathogenesis of non-Hodgkin's lymphomas (NHL) remains incompletely understood.
- Previous research suggested a potential link between MSI and acquired immunodeficiency syndrome (AIDS)-related B-NHL.
Purpose of the Study:
- To investigate the prevalence and significance of MSI in a diverse cohort of B-cell non-Hodgkin's lymphomas (B-NHL).
- To evaluate MSI status in both common B-NHL and AIDS-related B-NHL (AIDS-NHL) subtypes.
- To examine MSI in relation to disease progression and histologic transformation.
Main Methods:
- Analysis of five distinct microsatellite repeat markers (dinucleotide, trinucleotide, tetranucleotide) using polymerase chain reaction.
- Testing of 69 B-NHL cases, including 17 AIDS-NHL cases.
- Investigation of paired samples from before and after clinical progression in selected cases.
Main Results:
- Microsatellite instability (MSI) was not detected in any of the analyzed NHL cases based on the defined criteria (alterations in ≥2 loci).
- Contrary to prior reports, MSI was found in only 1 out of 17 AIDS-NHL cases, indicating a low prevalence.
- No significant association was observed between MSI and the molecular pathogenesis of B-NHL.
Conclusions:
- Defects in DNA mismatch repair, as indicated by MSI, do not appear to be a major contributor to the development of B-cell non-Hodgkin's lymphomas.
- The findings challenge previous associations of MSI with AIDS-related lymphomas.
- Further research may be needed to explore other molecular pathways involved in B-NHL pathogenesis.
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