Characterization of genomic alterations in primary central nervous system lymphomas.
Soheil ZorofchianHanadi El-AchiYuanqing YanYoshua EsquenaziLeomar Y BallesterPublished in: Journal of neuro-oncology (2018)
This study shows the most common genetic alterations in PCNSL as determined by a commercial next generation sequencing assay. MYD88 and CD79b are frequently mutated in PCNSL, IGH-BCL6 is the most frequent gene rearrangement and approximately 1/4 of cases show a high TMB. Mutations in multiple genes, in addition to high TMB and gene rearrangements, highlights the complex molecular heterogeneity of PCNSL. Knowledge about genetic alterations in PCNSL can inform the development of novel targets for diagnosis and treatment.