Hematologic Malignancy
Mature B-Cell Non-Hodgkin Lymphoma
CI-CAN-00003259Explore in graph →
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- C7056
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Hematologic Malignancy
CI-CAN-00003259Explore in graph →
Variants & evidence
216 evidence items mapped to this entity or its descendants, grouped by molecular profile, then therapy. 50 items per page.
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| CREBBP HAT mutation1 | ||||||||
| MTOR Inhibitor | Follicular Lymphoma | Predictive | B | Supports Sensitivity Response | 3 | submitted | EID12290Two 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 | civic |
| CREBBP Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11927This study showed that CREBBP and EP300 were recurrently mutated in DLBCL PMID 21390126 · Pasqualucci et al., 2011 · Open in CIViC | civic |
| CXCR4 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11939Identified from whole genome sequencing of DLBCL PMID 23131835 · Khodabakhshi et al., 2012 · Open in CIViC | civic |
| DAZAP1 mutation1 | ||||||||
| (oncogenic) | Mantle Cell Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11845DAZAP1 has been demonstrated to be recurrently mutated in multiple studies of MCL PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC | civic |
| DDX3X D347G1 | ||||||||
| (oncogenic) | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11812DDX3X 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 | civic |
| DDX3X Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11940Identified from exome sequencing of 574 DLBCL biopsies PMID 29641966 · Schmitz et al., 2018 · Open in CIViC | civic |
| DTX1 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11941Identified as recurrently mutated in an analysis of 574 DLBCL exomes PMID 29641966 · Schmitz et al., 2018 · Open in CIViC | civic |
| DUSP2 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 2 | submitted | EID11942This 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 | civic |
| EBF1 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11999This 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 | civic |
| EIF4A1 mutation1 | ||||||||
| (oncogenic) | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11838Recurrence of mutations confirmed by multiple studies PMID 31558468 · Panea et al., 2019 · Open in CIViC | civic |
| EP300 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11928This study showed that CREBBP and EP300 were recurrently mutated in DLBCL PMID 21390126 · Pasqualucci et al., 2011 · Open in CIViC | civic |
| ETS1 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11931This 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 | civic |
| EWSR1 mutation1 | ||||||||
| (oncogenic) | Mantle Cell Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11846Somewhat rare but recurrent mutations have been described PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC | civic |
| EZH2 A682G2 | ||||||||
| (oncogenic) | Follicular Lymphoma | Oncogenic | B | Supports Oncogenicity | 3 | accepted | EID12876In 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 | civic |
| 〃 | Follicular Lymphoma | Oncogenic | C | Supports Oncogenicity | 3 | accepted | EID12875In 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 | civic |
| EZH2 A638G + EZH2 A682G1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 3 | submitted | EID12904In 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 | civic |
| EZH2 A692V1 | ||||||||
| (oncogenic) | Follicular Lymphoma | Oncogenic | B | Supports Oncogenicity | 3 | submitted | EID12885In 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 | civic |
| EZH2 Activating Mutation2 | ||||||||
| Tazemetostat | Follicular Lymphoma | Predictive | A | Supports Sensitivity Response | 3 | accepted | EID9709Tazemetostat 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 | civic |
| 〃 | Follicular Lymphoma | Predictive | C | Supports Sensitivity Response | 1 | accepted | EID11107In 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 | civic |
| EZH2 expression1 | ||||||||
| Tazemetostat | Diffuse Large B-Cell Lymphoma Germinal Center B-Cell Type | Predictive | C | Supports Sensitivity Response | 1 | accepted | EID11108In 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 | civic |
| EZH2 Mutation1 | ||||||||
| (prognostic) | Follicular Lymphoma | Prognostic | B | Supports Better Outcome | 4 | accepted | EID1015In 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 | civic |
| EZH2 Y6462 | ||||||||
| (diagnostic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Diagnostic | B | Supports Positive | 4 | accepted | EID432Heterozygous 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 | civic |
| 〃 | Follicular Lymphoma | Diagnostic | B | Supports Positive | 4 | accepted | EID433Heterozygous 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 | civic |
| EZH2 Y646F3 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | D | Supports Oncogenicity | 3 | submitted | EID11012A 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 | civic |
| EPZ011989 | Diffuse Large B-Cell LymphomaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID11025In 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 | civic |
| GSK126 | Diffuse Large B-Cell LymphomaCURATED_BROADER | |||||||
| EZH2 Y646H1 | ||||||||
| Tazemetostat | Diffuse Large B-Cell LymphomaCURATED_BROADER | Predictive | C | Supports Sensitivity Response | 2 | accepted | EID9377A 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 | civic |
| EZH2 Y646N4 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | D | Supports Oncogenicity | 4 | accepted | EID11013A 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 | civic |
| GSK126 | Diffuse Large B-Cell LymphomaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID11105EZH2 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 | civic |
| Tazemetostat | Diffuse Large B-Cell LymphomaCURATED_BROADER | |||||||
| EZH2 A682G + EZH2 A692V + EZH2 Y646C + EZH2 Y646F + EZH2 Y646H + EZH2 Y646N + EZH2 Y646S3 | ||||||||
| (oncogenic) | Follicular Lymphoma | Oncogenic | B | Supports Oncogenicity | 4 | accepted | EID11111In 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 | civic |
| Tazemetostat | Follicular Lymphoma | Predictive | B | Supports Sensitivity Response | 4 | accepted | EID11109In this study, Koji Izutsu et al. conducted a multicenter, open-label phase II clinical trial to evaluate the efficacy and safety of the EZH2 inhibitor tazemetostat in Japanese patients with relapsed … (full text at CIViC) PMID 34159682 · Izutsu et al., 2021 · Open in CIViC | civic |
| 〃 | Diffuse Large B-Cell LymphomaCURATED_BROADER | Predictive | ||||||
| FAS Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11917This 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 | civic |
| FBXO11 mutation1 | ||||||||
| (oncogenic) | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | civic | |
| FOXO1 mutation2 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11934This 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 | civic |
| 〃 | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11819FOXO1 mutations are associated with multiple B-cell lymphomas including BL as described in the referenced study PMID 30617194 · Grande et al., 2019 · Open in CIViC | civic |
| FOXP1 AMPLIFICATION1 | ||||||||
| (diagnostic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Diagnostic | B | Supports Positive | 3 | accepted | EID408Amplification of FOXP1 is shown to be associated with ABC DLBCL. PMID 18765795 · Lenz et al., 2008 · Open in CIViC | civic |
| GNA13 mutation3 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11912This 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 | civic |
| 〃 | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11820Somatic mutations in this gene have been reported in several genome-wide studies of B-cell lymphomas PMID 30275490 · Arthur et al., 2018 · Open in CIViC | civic |
| 〃 | Burkitt Lymphoma | Oncogenic | E | Supports | ||||
| GNAI2 mutation2 | ||||||||
| (oncogenic) | EZB Diffuse Large B-Cell Lymphoma | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11943The study identified recurrently mutated genes in DLBCL using whole genome sequencing. PMID 23699601 · Morin et al., 2013 · Open in CIViC | civic |
| 〃 | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11839Mutated at high frequency in both DLBCL and BL PMID 30617194 · Grande et al., 2019 · Open in CIViC | civic |
| GRHPR Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11944This gene was identified as recurrently mutated in an analysis of 574 DLBCL exomes PMID 29641966 · Schmitz et al., 2018 · Open in CIViC | civic |
| H1-2 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11929This 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 | civic |
| H1-3 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11946The authors analyzed 304 primary DLBCLs using whole exome sequencing and targeted sequencing. This one one of the genes they identified as significantly enriched for somatic mutations. PMID 29713087 · Chapuy et al., 2018 · Open in CIViC | civic |
| H1-5 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11945The authors analyzed 304 primary DLBCLs using whole exome sequencing and targeted sequencing. This one one of the genes they identified as significantly enriched for somatic mutations. PMID 29713087 · Chapuy et al., 2018 · Open in CIViC | civic |
| H2AC17 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11948The authors analyzed 304 primary DLBCLs using whole exome sequencing and targeted sequencing. This one one of the genes they identified as significantly enriched for somatic mutations. PMID 29713087 · Chapuy et al., 2018 · Open in CIViC | civic |
| H2AC6 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11947The authors analyzed 304 primary DLBCLs using whole exome sequencing and targeted sequencing. This one one of the genes they identified as significantly enriched for somatic mutations. PMID 29713087 · Chapuy et al., 2018 · Open in CIViC | civic |
Data updated 23 hours agoSource updated unknownsource: civic (CC0)
Evidence levels, directions and ratings are those assigned by CIViC curators. "Submitted" items have not completed curation review. This is not treatment guidance.
| Predictive |
| D |
| Supports Sensitivity Response |
| 3 |
| submitted |
EID11106EZH2 inhibitor, GSK126, showed high potency against DLBCL cell lines, WSU-DLCL2 and SU-DHL-10, harboring the Y646F variant. Cell proliferation inhibition was measured after six days at growth IC50= 13… (full text at CIViC) PMID 23051747 · McCabe et al., 2012 · Open in CIViC |
| civic |
| Predictive |
| D |
| Supports Sensitivity Response |
| 3 |
| submitted |
EID11049In this preclinical study, mutated cell line, KARPAS-422 with EZH2 Y646N mutation, showed a strong cytotoxic response at 250 nmol/L tazemetostat while cell lines with wild EZH2 showed dose-dependent d… (full text at CIViC) PMID 28835384 · Brach et al., 2017 · Open in CIViC |
| civic |
| Atezolizumab + TazemetostatCombination | Diffuse Large B-Cell LymphomaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 2 | submitted | EID1111243 DLBCL patients were recruited for this phase Ib study to evaluate the safety and efficacy of combining both EZH2 inhibitor, tazemetostat, and PDL1 blocker, atezolizumab. Tazemetostat was administer… (full text at CIViC) PMID 35151584 · Palomba et al., 2022 · Open in CIViC | civic |
| B |
| Supports Sensitivity Response |
| 3 |
| accepted |
EID11110This phase II study evaluated the efficacy and safety of the EZH2 inhibitor tazemetostat in Japanese adults with relapsed or refractory B-cell non-Hodgkin lymphoma harboring EZH2-activating mutations … (full text at CIViC) PMID 34159682 · Izutsu et al., 2021 · Open in CIViC |
| civic |
| 3 |
| submitted |
EID11821Mutations in this gene have been described in several genome-wide studies of B-cell lymphomas including this one PMID 30617194 · Grande et al., 2019 · Open in CIViC |
| civic |