Genomic Landscape and Distinct Molecular Subsets of Primary Testicular Lymphoma

Abstract

Primary testicular lymphoma (PTL) is a malignant aggressive tumor that occurs in older men, and which is 90% histologically diffuse large B-cell lymphoma (PT-DLBCL). However, as a malignant tumor occurring in an immune privileged site, it is not very effective against a wide range of treatments and its prognosis is not satisfactory. To gain insight into the pathogenesis of PTL and the factors associated with its poor prognosis, the whole-exome sequencing analysis of 25 PTL patients were performed. Single-nucleotide variation (SNV) were analyzed through GATK and ANNOVAR workflows. In summary, we identified a number of high-frequency mutant genes, such as MYD88, HLA-A, PIM1 and so on. These high-frequency mutated genes are compatible with the high-frequency mutated genes that have appeared in previous studies on the genetic characteristics. However, we also identified some high-frequency mutated genes that have been rarely mentioned in previous articles. In addition, we calculated the TMB in order to see if the mutation had any impact on the prognosis and recurrence rate of the patients, and the results showed that a high TMB predicted a low progression-free survival (PFS). Notably, we will further analyze TMB and CNV to differentiate molecular subsets groups of PTL patients, which will have a basis for future immunotherapy in PTL.