We performed exome sequencing of tumor (lymph node) and normal (skin) frozen tissue pairs from 24 patients in a discovery cohort with untreated follicular lymphoma (FL), relapsed FL, or transformed FL/iNHL (indolent non-Hodgkin lymphoma). From 24 patients, 28 tumor samples were exome sequenced including 1 patient with both untreated and relapse samples and 3 patients with samples derived from both bulk lymph node and following flow-sorting to purify light chain-restricted CD19+ lymphoma cells. We developed a custom capture assay (NimbleGen) that targets 7.05 MB corresponding to the exons and splice sites of 1716 genes (WUSM-LP). The custom capture genes included somatic nucleotide variants (SNVs) identified in our exome discovery cohort (898 genes) or SNVs previously published to be recurrently mutated in B cell NHL (818 genes). This custom capture reagent was used to sequence additional FFPE samples (and corresponding normal tissue, when available) from patients with follicular lymphoma. This approach was used to identify recurrently mutated genes in pathways in FL.

We performed exome sequencing of tumor (lymph node) and normal (skin) frozen tissue pairs from 24 patients in a discovery cohort with untreated follicular lymphoma (FL), relapsed FL, or transformed FL/iNHL (indolent non-Hodgkin lymphoma). From 24 patients, 28 tumor samples were exome sequenced including 1 patient with both untreated and relapse samples and 3 patients with samples derived from both bulk lymph node and following flow-sorting to purify light chain-restricted CD19+ lymphoma cells. We developed a custom capture assay (NimbleGen) that targets 7.05 MB corresponding to the exons and splice sites of 1716 genes (WUSM-LP). The custom capture genes included somatic nucleotide variants (SNVs) identified in our exome discovery cohort (898 genes) or SNVs previously published to be recurrently mutated in B cell NHL (818 genes). This custom capture reagent was used to sequence additional FFPE samples (and corresponding normal tissue, when available) from patients with follicular lymphoma. This approach was used to identify recurrently mutated genes in pathways in FL.