Hematologic Malignancy
Diffuse Large B-Cell Lymphoma
CI-CAN-00005107DLBCLExplore in graph →
- NCIt
- C8851
- DOID
- 0050745
- Other
- 4 more codes
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Hematologic Malignancy
CI-CAN-00005107DLBCLExplore in graph →
Variants & evidence
135 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 |
|---|---|---|---|---|---|---|---|---|
| ACTB Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11906This study performed exome sequencing on 55 DLBCL tumor samples and identified several significantly mutated genes including ACTB. PMID 22343534 · Lohr et al., 2012 · Open in CIViC | civic |
| ARID1A Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11907This study sequenced 73 DLBCL tumors (34 with matched constitutional DNA) and reported 322 genes they deemed recurrently mutated. Only genes that have been confirmed by other similar studies were adde… (full text at CIViC) PMID 23292937 · Zhang et al., 2013 · Open in CIViC | civic |
| ATM Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11908This study reportedly sequenced 1001 DLBCL tumors using whole exome sequencing. They reported 150 recurrently mutated genes. Only genes that have been confirmed by other similar studies were added to … (full text at CIViC) PMID 28985567 · Reddy et al., 2017 · Open in CIViC | civic |
| B2M Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11930This 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 |
| BCL10 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11911This 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 |
| BCL11A Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11935The 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 |
| BCL2 Overexpression2 | ||||||||
| (prognostic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID423In patients with Diffuse Large B-Cell Lymphoma, those with increased levels of BCL2 were shown to have decreased overall, disease-free, and relapse-free survival. PMID 9207459 · Gascoyne et al., 1997 · Open in CIViC | civic |
| 〃 | Diffuse Large B-Cell LymphomaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | rejected | EID424In patients with Diffuse Large B-Cell Lymphoma, those with increased levels of BCL2 were shown to have decreased OS, DFS, and RFS. PMID 9207459 · Gascoyne et al., 1997 · Open in CIViC | civic |
| BCL2 reg_e@[IGH]::BCL21 | ||||||||
| (diagnostic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Diagnostic | B | Supports Positive | 4 | accepted | EID407The t(14;18) transloaction of BCL2 is shown to be associated with germinal-center B-cell–like diffuse large-B-cell lymphomas. PMID 12075054 · Rosenwald et al., 2002 · Open in CIViC | civic |
| BCL2 Translocation1 | ||||||||
| (diagnostic) | High Grade B-Cell Lymphoma with MYC and BCL2 Rearrangements | Diagnostic | A | Supports Positive | 4 | submitted | EID11810The combination of these genetic features are diagnostic for this newly defined entity as per the latest ICC and WHO guidelines PMID 35653592 · Campo et al., 2022 · Open in CIViC | civic |
| BCL6 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11915This 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 |
| BCL7A mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11936This study reportedly sequenced 1001 DLBCL tumors using whole exome sequencing. They reported 150 recurrently mutated genes. Only genes that have been confirmed by other similar studies were added to … (full text at CIViC) PMID 28985567 · Reddy et al., 2017 · Open in CIViC | civic |
| BIRC6 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID12000This 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 |
| BRAF Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11937This study performed exome sequencing on 55 DLBCL tumor samples and identified several significantly mutated genes including BRAF. PMID 22343534 · Lohr et al., 2012 · Open in CIViC | civic |
| BRAF V600E1 | ||||||||
| Venetoclax | Diffuse Large B-Cell LymphomaCURATED_BROADER | Predictive | D | Supports Resistance | 3 | submitted | EID8952In a preclinical study, Diffuse large B-cell lymphoma cell lines expressing BRAF V600E were resistant to a BCL-2 inhibitor, venetoclax, demonstrating cell growth inhibition at half-maximal growth inhi… (full text at CIViC) PMID 29463802 · Herling et al., 2018 · Open in CIViC | civic |
| BTG1 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11918This 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 |
| BTG2 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11914This 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 |
| BTK MUTATION1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11938This study reportedly sequenced 1001 DLBCL tumors using whole exome sequencing. They reported 150 recurrently mutated genes. Only genes that have been confirmed by other similar studies were added to … (full text at CIViC) PMID 28985567 · Reddy et al., 2017 · Open in CIViC | civic |
| CARD11 MUTATION2 | ||||||||
| (prognostic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Prognostic | D | Supports Poor Outcome | 4 | rejected | EID8344The signalling adaptor CARD11 is required for constitutive NF-kappaB pathway activity and survival in ABC DLBCL. Roughly 10% of ABC DLBCLs have mutant CARD11 isoforms that activate NF-kappaB, but the … (full text at CIViC) PMID 20054396 · Davis et al., 2010 · Open in CIViC | civic |
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11932This 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 |
| CCND3 mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11926This 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 |
| CD58 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11923This 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 |
| CD70 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11925This 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 |
| CD79B MUTATION2 | ||||||||
| (prognostic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Prognostic | A | Supports Better Outcome | 4 | submitted | EID8262MCD subtype is based on the co-occurrence of MYD88.L265P and CD79B mutations. PMID 29641966 · Schmitz et al., 2018 · Open in CIViC | civic |
| (diagnostic) | MCD Diffuse Large B-Cell Lymphoma | Diagnostic | E | Supports Positive | 3 | submitted | EID11822This is one of the genetic features of this subgroup PMID 32289277 · Wright et al., 2020 · Open in CIViC | civic |
| CD83 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID12001This 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 |
| CDC50A loss-of-function mutation1 | ||||||||
| R-CHOP Regimen | Diffuse Large B-Cell LymphomaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 4 | submitted | EID11922This 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 | civic |
| CDC50A Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11921This 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 |
| CIITA Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11916This 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 |
| ALK Fusion3 | ||||||||
| (prognostic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Prognostic | C | Supports Poor Outcome | 3 | accepted | EID1263CLTC-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 | civic |
| ALK Inhibitor TAE684 | Diffuse Large B-Cell LymphomaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 4 | accepted | EID1261A 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 | civic |
| Crizotinib | Diffuse Large B-Cell Lymphoma | |||||||
| 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 |
| 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 |
| 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 |
| 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 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 Y6461 | ||||||||
| (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 |
| 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 Y646N3 | ||||||||
| (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 | |||||||
Data updated 22 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 |
| C |
| Supports Sensitivity Response |
| 3 |
| accepted |
EID1265A 21 year old male presented with lymphadenopathy and a low density mass in pancreas. Histopathological analysis showed diffuse tumor cell infiltrate (CD20/EMA negative) with cytoplasmic ALK. RT-PCR i… (full text at CIViC) PMID 26221234 · Li et al., 2015 · Open in CIViC |
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| 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 |
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| 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 |
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