The mutator pathway is a feature of immunodeficiency-related lymphomas

A Duval, M Raphael, C Brennetot… - Proceedings of the …, 2004 - National Acad Sciences
A Duval, M Raphael, C Brennetot, H Poirel, O Buhard, A Aubry, A Martin, A Krimi, V Leblond…
Proceedings of the National Academy of Sciences, 2004National Acad Sciences
The mutator phenotype caused by defects in the mismatch repair system is observed in a
subset of solid neoplasms characterized by widespread microsatellite instability-high (MSI-
H). It is known to be very rare in non-Hodgkin lymphomas (NHL), whereas mutator NHL is
the most frequent tumor subtype in mismatch repair-deficient mice. By screening a series of
603 human NHL with specific markers of the mutator phenotype, we found here 12 MSI-H
cases (12/603, 2%). Of interest, we demonstrated that this phenotype was specifically …
The mutator phenotype caused by defects in the mismatch repair system is observed in a subset of solid neoplasms characterized by widespread microsatellite instability-high (MSI-H). It is known to be very rare in non-Hodgkin lymphomas (NHL), whereas mutator NHL is the most frequent tumor subtype in mismatch repair-deficient mice. By screening a series of 603 human NHL with specific markers of the mutator phenotype, we found here 12 MSI-H cases (12/603, 2%). Of interest, we demonstrated that this phenotype was specifically associated with immunodeficiency-related lymphomas (ID-RL), because it was observed in both posttransplant lymphoproliferative disorders (9/111, 8.1%) and HIV infection-related lymphomas (3/128, 2.3%) but not in a large series of NHL arising in the general population (0/364) (P < 0.0001). The MSI pathway is known to lead to the production of hundreds of abnormal protein neoantigens that are generated in MSI-H neoplasms by frameshift mutations of a number of genes containing coding microsatellite sequences. As expected, MSI-H ID-RL were found to harbor such genetic alterations in 12 target genes with a putative role in lymphomagenesis. The observation that the MSI-H phenotype was restricted to HIV infection-related lymphomas and posttransplant lymphoproliferative disorders suggests the existence of the highly immunogenic mutator pathway as a novel oncogenic process in lymphomagenesis whose role is favored when host immunosurveillance is reduced. Because MSI-H-positive cases were found to be either Epstein-Barr virus-positive or -negative, the mutator pathway should act synergistically or not with this other oncogenic factor, playing an important role in ID-RL.
National Acad Sciences