B-Cell Non-Hodgkin Lymphoma

This study used a combination of RNA-seq, whole genome and targeted sequencing to identify recurrently mutated genes in follicular and diffuse large B-cell lymphoma. They reported 30 genes that had si… (full text at CIViC)

PMID 21796119 · Morin et al., 2011 · Open in CIViC

MCD subtype is based on the co-occurrence of MYD88.L265P and CD79B mutations.

PMID 29641966 · Schmitz et al., 2018 · Open in CIViC

This is one of the genetic features of this subgroup

PMID 32289277 · Wright et al., 2020 · Open in CIViC

In a preclinical study using 5 CD80-overexpressing Burkitt B-cell lymphoma cell lines (Raji, Daudi, Ramos, DHL4, 2F7), treatment with the anti-CD80 monoclonal antibody galiximab (25–100 µg/mL) inhibit… (full text at CIViC)

PMID 22267549 · Martinez-Paniagua et al., 2012 · Open in CIViC

This study reportedly sequenced 1001 DLBCL tumors using whole exome sequencing. They reported 150 recurrently mutated genes. Some concerns about the validity of the results have been expressed in subs… (full text at CIViC)

PMID 28985567 · Reddy et al., 2017 · Open in CIViC

This study shows that patients with TMEM30A mutations respond better to standard of care (R-CHOP). The functional data implies these mutations may also sensitize more generally to other chemotherapies… (full text at CIViC)

PMID 32094924 · Ennishi et al., 2020 · Open in CIViC

This study used a combination of RNA-seq, whole genome and targeted sequencing to identify recurrently mutated genes in follicular and diffuse large B-cell lymphoma. They reported 30 genes that had si… (full text at CIViC)

PMID 21796119 · Morin et al., 2011 · Open in CIViC

Mutations have been described in several studies including the one cited.

PMID 30617194 · Grande et al., 2019 · Open in CIViC

Mutations in this gene have been described as a feature of some BLs as per this study

PMID 30617194 · Grande et al., 2019 · Open in CIViC

This study used a combination of RNA-seq, whole genome and targeted sequencing to identify recurrently mutated genes in follicular and diffuse large B-cell lymphoma. They reported 30 genes that had si… (full text at CIViC)

PMID 21796119 · Morin et al., 2011 · Open in CIViC

CLTC-ALK is one of the most common ALK fusions found in diffuse large B cell lymphoma (DLBCL). In a retrospective study of 38 patients with ALK-rearranged DLBCL, 3 were CD20 positive. Only one showed … (full text at CIViC)

PMID 19636007 · Laurent et al., 2009 · Open in CIViC

A cell line called LM1 was established from the bone marrow of a 13 year old female patient with relapsed CLTC-ALK positive diffuse large B-cell lymphoma (DLBCL). The patient had been heavily treated … (full text at CIViC)

PMID 21494621 · Cerchietti et al., 2011 · Open in CIViC

A 37 year old, heavily pretreated (including thalidomide and lenalidomide) patient with IgG-kappa multiple myeloma was sequenced following extramedullary relapse. A high number of alterations were obs… (full text at CIViC)

PMID 23480694 · Egan et al., 2013 · Open in CIViC

Two phase II clinical trials examined mTOR inhibitors, everolimus (NCT00436618) or temsirolimus (NCT00290472) in relapsed/refractory FL. Tumour blocks were collected from these trials for 21 cases (15… (full text at CIViC)

PMID 39188028 · Kumar et al., 2024 · Open in CIViC

This study showed that CREBBP and EP300 were recurrently mutated in DLBCL

PMID 21390126 · Pasqualucci et al., 2011 · Open in CIViC

Clinical responses to NY-ESO-1/LAGE-1 TCR-engineered T-cells were observed in 16 of 20 patients (80%) with advanced multiple myeloma expressing NY-ESO-1 and/or LAGE-1 in this Phase 1/2a trial showing … (full text at CIViC)

PMID 26193344 · Rapoport et al., 2015 · Open in CIViC

Clinical responses to NY-ESO-1/LAGE-1 TCR-engineered T-cells were observed in 16 of 20 patients (80%) with advanced multiple myeloma expressing NY-ESO-1 and/or LAGE-1 in this Phase 1/2a trial showing … (full text at CIViC)

PMID 26193344 · Rapoport et al., 2015 · Open in CIViC

Identified from whole genome sequencing of DLBCL

PMID 23131835 · Khodabakhshi et al., 2012 · Open in CIViC

DAZAP1 has been demonstrated to be recurrently mutated in multiple studies of MCL

PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC

DDX3X mutations are one of the most common somatic alterations in BL. This is just an arbitrarily chosen example of a mutation observed in the cited study.

PMID 30617194 · Grande et al., 2019 · Open in CIViC

Identified from exome sequencing of 574 DLBCL biopsies

PMID 29641966 · Schmitz et al., 2018 · Open in CIViC

Identified as recurrently mutated in an analysis of 574 DLBCL exomes

PMID 29641966 · Schmitz et al., 2018 · Open in CIViC

This study reportedly sequenced 1001 DLBCL tumors using whole exome sequencing. They reported 150 recurrently mutated genes. Some concerns about the validity of the results have been expressed in subs… (full text at CIViC)

PMID 28985567 · Reddy et al., 2017 · Open in CIViC

This study reportedly sequenced 1001 DLBCL tumors using whole exome sequencing. They reported 150 recurrently mutated genes. Some concerns about the validity of the results have been expressed in subs… (full text at CIViC)

PMID 28985567 · Reddy et al., 2017 · Open in CIViC

Recurrence of mutations confirmed by multiple studies

PMID 31558468 · Panea et al., 2019 · Open in CIViC

This study showed that CREBBP and EP300 were recurrently mutated in DLBCL

PMID 21390126 · Pasqualucci et al., 2011 · Open in CIViC

This study used a combination of RNA-seq, whole genome and targeted sequencing to identify recurrently mutated genes in follicular and diffuse large B-cell lymphoma. They reported 30 genes that had si… (full text at CIViC)

PMID 21796119 · Morin et al., 2011 · Open in CIViC

Somewhat rare but recurrent mutations have been described

PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC

In this 2013 study, the authors analyzed 366 follicular lymphoma (FL) patients with additional paired samples from 33 cases of transformed FL. Patients harbored EZH2 mutations predominantly at codons … (full text at CIViC)

PMID 24052547 · Bödör et al., 2013 · Open in CIViC

In this 2020 study, the authors analyzed four cases of follicular lymphoma using circulating tumor DNA and droplet digital PCR to monitor EZH2 hotspot mutations, including A682G. One patient with tran… (full text at CIViC)

PMID 32668764 · Nagy et al., 2020 · Open in CIViC

In this 2011 study, the authors analyzed tumor and matched normal DNA and RNA from 127 cases of B-cell non-Hodgkin lymphoma to identify recurrent somatic variants. EZH2 A682G and A638G were identified… (full text at CIViC)

PMID 21796119 · Morin et al., 2011 · Open in CIViC

In this study, 366 patients with follicular lymphoma were analyzed using next-generation sequencing and Sanger sequencing to evaluate EZH2 variants. EZH2 variants were identified in 101 patients (27.6… (full text at CIViC)

PMID 24052547 · Bödör et al., 2013 · Open in CIViC

In this study, tumor and matched normal DNA and RNA from 127 cases of B-cell non-Hodgkin lymphoma were analyzed to identify recurrent somatic variants. EZH2 A692V was identified in one lymphoma case. … (full text at CIViC)

PMID 21796119 · Morin et al., 2011 · Open in CIViC

Tazemetostat was found to have increased anti-tumor activity in patients with relapsed/refractory follicular lymphoma with gain-of-function EZH2 mutations (cobas EZH2 Mutation Test; objective response… (full text at CIViC)

PMID 33035457 · Morschhauser et al., 2020 · Open in CIViC

In this phase I study, four Japanese patients with follicular lymphoma were recruited to test the efficacy of EZH2 inhibitor-Tazemetostat. Patients were screened for presence of EZH2 mutations and onl… (full text at CIViC)

PMID 33492746 · Munakata et al., 2021 · Open in CIViC

In this phase I study (clinical trial NCT03009344), one patient with germinal center B‐cell‐like (GCB) DLBCL and two with non-GCB DLBCL types were recruited to test the efficacy of EZH2 inhibitor-Taze… (full text at CIViC)

PMID 33492746 · Munakata et al., 2021 · Open in CIViC

In advanced stage follicular lymphoma patients receiving rituximab + chemotherapy (R-CHOP or R-CVP), EZH2 mutations were associated with better failure free survival in patients with high-risk FLIPI s… (full text at CIViC)

PMID 26256760 · Pastore et al., 2015 · Open in CIViC

Heterozygous mutations in EZH2 at Y641 were the second most frequent genetic event (after BCL2 t(14;18)) associated with a diagnosis of GCB-DLBCL in 35 / 320 patient samples. In contrast, mutations in… (full text at CIViC)

PMID 20081860 · Morin et al., 2010 · Open in CIViC

Heterozygous mutations in EZH2 at Y641 were the second most frequent genetic event (after BCL2 t(14;18)) associated with a diagnosis of Follicular non-Hodgkin Lymphoma in 18 / 251 patient samples. In … (full text at CIViC)

PMID 20081860 · Morin et al., 2010 · Open in CIViC

A selective EZH2 inhibitor (EI1) and siRNA were used to inhibit EZH2 Y641F mutation in DLBCL mutated cell line (WSU-DLCL2). Two independent siRNAs knocked down EZH2 mRNA by almost 80% and inhibited c… (full text at CIViC)

PMID 23236167 · Qi et al., 2012 · Open in CIViC

In this preclinical study, authors aimed to study EZH2 inhibition effect on PRAME in DLBCL. IμBcl6 EZH2-Y646F Cγ1-Cre mice were used for in vivo experiment using a vehicle or EZH2 inhibitor, EPZ011989… (full text at CIViC)

PMID 35380993 · Takata et al., 2022 · Open in CIViC

A phase I safety and dose-escalation study (NCT01897571) was completed for tazemetostat in relapsed or refractory B-cell non-Hodgkin lymphoma or advanced solid tumors. Durable objective responses, inc… (full text at CIViC)

PMID 29650362 · Italiano et al., 2018 · Open in CIViC

A selective EZH2 inhibitor (EI1) was used to target the EZH2 Y641N mutation in DLBCL cell lines. EI1 treatment significantly inhibited proliferation in EZH2-mutated cells compared to lymphoma cells wi… (full text at CIViC)

PMID 23236167 · Qi et al., 2012 · Open in CIViC

EZH2 inhibitor, GSK126, showed high potency against DLBCL cell line, KARPAS-422, which harbors the variant Y646N, and resulted in cellular proliferation inhibition after six days (growth IC50 = 232 n… (full text at CIViC)

PMID 23051747 · McCabe et al., 2012 · Open in CIViC

In this large cohort study, 366 patients with follicular lymphoma (FL) were recruited to investigate the incidence and distribution of EZH2 mutations. NGS and Sanger detected EZH2 positive mutations i… (full text at CIViC)

PMID 24052547 · Bödör et al., 2013 · Open in CIViC

In a multicentre, open-label, phase 1 trial, tazemetostat was evaluated in 64 adult patients (≥18 years) with relapsed or refractory B-cell non-Hodgkin lymphoma (n=21) or advanced solid tumours (n=43)… (full text at CIViC)

PMID 29650362 · Italiano et al., 2018 · Open in CIViC