A Summary of Variant classification in DLBCL NOS cases of specific genetic subtypes

Note the higher mutational load in comparison with the molecular NOS cases. B Summary of Variant classification in DLBCL NOS of the molecular NOS/other subtype (49%, 37 case. S2 Fig. A complete representation of genetic subtype associated Lymphgen features found on each case of DLBCL. Genetic subtype prediction, FISH results for MYC, BCL2 and BCL6, Histopathological subtype and cell of origin phenotype are shown. S3 Fig. Oncogenic signaling pathway analysis focusing on the RTK/RAS pathway in molecular NOS/Other DLBCL cases. Somatic mutations in genes such as ROS1 (7 cases) were prevalent in these cases. Mutations in MAPK/ERK pathway were absent with isolated cases showing NF1 (4 cases), BRAF (1 case) and NRAs (1 case) somatic mutations. B. Detail of gene locations for mutations in ROS1, NF1 and ALK. S4 Fig. TP53 somatic mutations in DLBCL cases. Detailed protein location of TP53 gene mutations are shown. Note the presence of hotspot mutations such as (p.Arg175His COSV52661038 and p.Gly245Ser, COSV52661877). S5 Fig. Detailed protein location of recurrent mutations in MAPK/ERK pathway genes, EGFR and ROS1 in plasmablastic lymphoma. S6 Fig. druggable categories in plasmablastic lymphoma according to mutational landscape. S1 Table. Summary of pathological features of the cohort of cases. Data regarding histopathological diagnosis according to current WHO classification, phenotype based on immunohistochemistry and/or gene expression profiling (LymphC2x), MYD88 L265P mutation status by allele-specific PCR and/or NGS in the tumor biopsy, FISH results, TP53 CNAs prediction, Lymphgen 2.0 genetic subtype predictions, EBV-EBER by in situ hybridization in tumor biopsy and HIV status are shown. S2 Table. MYD88L265P mutation status detected by AS-PCR in an independent series of 112 DLBCL samples, including seventy-one extranodal DLBCL. The prevalence of MYD88L265P mutation in extranodal samples was 45%, in contrast with <10% of nodal Lymphoma cases. S3 Table. Summary genetic subtype associated Lymphgen features found on each case of DLBCL. S4 Table. Summary of Lymphgen features found on each case of Plasmablastic Lymphoma. S5 Table. List of somatic variants identified in 108 cases. This list includes all type of variants (synonymous, intronic, missense, nonsense, splice site, frame-shift deletions, frame-shift insertions, in frame deletions, in-frame insertions, translation start site, non-stop mutations) with a DP superior or equal to 50 reads. For evaluation of complete raw data for each case, including germline DNA sequencing when available, please consider to log in the EGA repository (https://ega-archive.org/studies/EGAS50000000371). Request for data access may be referred directly to the Data Access Committee: https://ega-archive.org/dacs/EGAC50000000261