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 |
|---|---|---|---|---|---|---|---|---|
| H2BC12 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11950The 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 |
| H2BC5 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 2 | submitted | EID11949This 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 |
| HLA-A Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11951The 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 |
| HLA-B Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11952The 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 |
| HLA-C Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11953The 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 |
| HNRNPH1 non-coding mutations2 | ||||||||
| (prognostic) | Mantle Cell Lymphoma | Prognostic | E | Supports Poor Outcome | 4 | submitted | EID11905This study functionally characterized the role of recurrent non-coding mutations affecting exon 4 of the gene HNRNPH1. These mutations were significantly associated with shorter progression-free survi… (full text at CIViC) PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC | civic |
| (oncogenic) | Mantle Cell Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11847non-coding mutations have been functionally shown to influence HNRNPH1 expression PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC | civic |
| HNRNPU mutation1 | ||||||||
| (oncogenic) | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11840Recurrence of mutations now confirmed by multiple studies PMID 31558468 · Panea et al., 2019 · Open in CIViC | civic |
| HVCN1 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11954The 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 |
| ID3 mutation1 | ||||||||
| (oncogenic) | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11841ID3 mutations have been firmly established as a distinguishing genetic feature of BL and are one of the defining mutations in the new BL genetic subgrouping system proposed by Thomas et al PMID 23143595 · Richter et al., 2012 · Open in CIViC | civic |
| IL4R Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11955Based on a larger collection of 325 de novo DLBCL cases, the authors identified tumors with DLBCL morphology and a primary mediastinal B-cell lymphoma gene expression signature and identified mutation… (full text at CIViC) PMID 33684939 · Duns et al., 2021 · Open in CIViC | civic |
| IRF4 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11933This 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 |
| IRF8 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11920mutated genes in follicular and diffuse large B-cell lymphoma. They reported 30 genes that had significant evidence for recurrent mutation and positive selective pressure (Table 1). This is one of tho… (full text at CIViC) PMID 21796119 · Morin et al., 2011 · Open in CIViC | civic |
| ITPKB Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11956This gene was identified as recurrently mutated in an analysis of 574 DLBCL exomes PMID 29641966 · Schmitz et al., 2018 · Open in CIViC | civic |
| KLF2 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11957This gene was identified as recurrently mutated in an analysis of 574 DLBCL exomes PMID 29641966 · Schmitz et al., 2018 · Open in CIViC | civic |
| KLHL14 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11958This 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 |
| KLHL6 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11924This 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 |
| KMT2C Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 2 | submitted | EID11959The rate of KMT2C/MLL3 mutations reported in DLBCL was above 20% in the Zhang study but much lower in other studies (around 5%). Although the mutations do continue to be observed, the relevance and fr… (full text at CIViC) PMID 23292937 · Zhang et al., 2013 · Open in CIViC | civic |
| KMT2D Loss-of-function1 | ||||||||
| (diagnostic) | Follicular Lymphoma | Diagnostic | B | Supports Positive | 3 | accepted | EID435MLL2 was found to be the most frequently mutated gene in a sample of 31/35 follicular lymphoma patients and was not mutated in normal centroblast samples. Furthermore, MLL2 mutations were as frequentl… (full text at CIViC) PMID 21796119 · Morin et al., 2011 · Open in CIViC | civic |
| KMT2D mutation5 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | civic | |
| 〃 | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11835More common in DLBCL but also mutated in BL PMID 30617194 · Grande et al., 2019 · Open in CIViC | civic |
| 〃 | Mantle Cell Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11871[the study] identified 25 significantly mutated genes, including known drivers such as ataxia-telangectasia mutated (ATM), cyclin D1 (CCND1), and the tumor suppressor TP53; mutated genes encoding the … | |
| KRAS Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11960This study performed exome sequencing on 55 DLBCL tumor samples and identified several significantly mutated genes including KRAS. PMID 22343534 · Lohr et al., 2012 · Open in CIViC | civic |
| LTB Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11961The 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 |
| LYN Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 2 | submitted | EID11962The 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. The rate of mut… (full text at CIViC) PMID 29713087 · Chapuy et al., 2018 · Open in CIViC | civic |
| MEF2B mutation2 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11919Multiple studies have demonstrated an enrichment for somatic missense mutations in MEF2B including multiple hot spots. PMID 21796119 · Morin et al., 2011 · Open in CIViC | civic |
| 〃 | Mantle Cell Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11872[the study] identified 25 significantly mutated genes, including known drivers such as ataxia-telangectasia mutated (ATM), cyclin D1 (CCND1), and the tumor suppressor TP53; mutated genes encoding the … (full text at CIViC) PMID 24145436 · Beà et al., 2013 · Open in CIViC | civic |
| MEF2C Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11963The 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 |
| MGA Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11964This 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 |
| MPEG1 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11965The authors performed an integrative analysis of genomes, exomes and transcriptome data from DLBCL and identified recurrent coding and non-coding loci that are commonly mutated in DLBCL PMID 30275490 · Arthur et al., 2018 · Open in CIViC | civic |
| MS4A1 Mutation1 | ||||||||
| R-CHOP Regimen | Diffuse Large B-Cell LymphomaCURATED_BROADER | Predictive | B | Supports Resistance | 3 | accepted | EID10367A targeted sequencing study of 135 relapsed/refractory DLBCL patients identified an association between missense mutations in MS4A1 and acquired resistance to R-CHOP. PMID 32589730 · Rushton et al., 2020 · Open in CIViC | civic |
| MYC Translocation1 | ||||||||
| (diagnostic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Diagnostic | A | Supports Positive | 4 | submitted | EID11809MYC translocations, often (but not always) involving immunoglobulin loci, are common in DLBCL and one of two defining features of high-grade B-cell lymphoma with MYC and BCL2 rearrangements PMID 35653592 · Campo et al., 2022 · Open in CIViC | civic |
| BCL2 Translocation + MYC TranslocationMYCBCL21 | ||||||||
| (diagnostic) | High Grade B-Cell Lymphoma with MYC and BCL2 Rearrangements | Diagnostic | A | Supports Positive | 4 | submitted | EID11811MYC and BCL2 rearrangements together are defining diagnostic features of this new entity PMID 35653592 · Campo et al., 2022 · Open in CIViC | civic |
| BCL2 Translocation + BCL6 Translocation + MYC TranslocationMYCBCL2BCL61 | ||||||||
| (prognostic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Prognostic | C | Supports Poor Outcome | 2 | submitted | EID9813In 2016 the WHO added a new category of lymphoma, separate from diffuse large B-cell lymphoma, termed high-grade B-cell lymphoma with MYC AND [BCL2 OR BCL6] translocations. These represent less than 1… (full text at CIViC) PMID 28600333 · Friedberg, 2017 · Open in CIViC | civic |
| MYD88 L265P3 | ||||||||
| (prognostic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 3 | submitted | EID9376A meta-analysis of 40 published studies on 2736 DLBCL patients. The MYD88 L265P mutation was significantly associated with old age and poor overall survival, but not with sex and clinical stage. This … (full text at CIViC) PMID 28496180 · Lee et al., 2017 · Open in CIViC | civic |
| Ibrutinib | Lymphoplasmacytic Lymphoma | Predictive | B | Supports Sensitivity Response | 4 | accepted | EID986A prospective study of ibrutinib in 63 symptomatic patients with Waldenström's macroglobulinemia who had received at least one previous treatment. The response rates were highest among patients with M… (full text at CIViC) PMID 25853747 · Treon et al., 2015 · Open in CIViC | civic |
| IMG-2005-5 + IRAK-1/4 InhibitorSubstitutes | Lymphoplasmacytic Lymphoma | |||||||
| NFKBIA Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11967This gene was identified as recurrently mutated in an analysis of 574 DLBCL exomes PMID 29641966 · Schmitz et al., 2018 · Open in CIViC | civic |
| NFKBIE Mutation2 | ||||||||
| (oncogenic) | Mantle Cell Lymphoma | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11904Through a meta-analysis of exome and whole genome sequencing data, this study identified 18 genes that were significantly enriched for mutations in MCL including NFKBIE. PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC | civic |
| 〃 | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11966This gene was identified as recurrently mutated in an analysis of 574 DLBCL exomes PMID 29641966 · Schmitz et al., 2018 · Open in CIViC | civic |
| NFKBIZ 3-prime UTR mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11968The authors performed an integrative analysis of genomes, exomes and transcriptome data from DLBCL and identified recurrent coding and non-coding loci that are commonly mutated in DLBCL PMID 30275490 · Arthur et al., 2018 · Open in CIViC | civic |
| NOL9 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11969The authors performed an integrative analysis of genomes, exomes and transcriptome data from DLBCL and identified recurrent coding and non-coding loci that are commonly mutated in DLBCL PMID 29641966 · Schmitz et al., 2018 · Open in CIViC | civic |
| NOTCH1 Mutation4 | ||||||||
| (prognostic) | Mantle Cell Lymphoma | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID49414 out of 121 patient samples contained mutations in NOTCH1. Those with mutations had worse overall survival than wild-type (median OS, 1.43 years vs. 3.86 years). PMID 22210878 · Kridel et al., 2012 · Open in CIViC | civic |
| 〃 | Mantle Cell Lymphoma | Prognostic | E | Supports Poor Outcome | 4 | submitted | EID11895This study confirmed clinical associations between TP53 and NOTCH1 with poor outcome. PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC | civic |
| (oncogenic) | Mantle Cell Lymphoma | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11900Through a meta-analysis of exome and whole genome sequencing data, this study identified 18 genes that were significantly enriched for mutations in MCL including NOTCH1. | |
| NOTCH2 Mutation2 | ||||||||
| (oncogenic) | Mantle Cell Lymphoma | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11902Through a meta-analysis of exome and whole genome sequencing data, this study identified 18 genes that were significantly enriched for mutations in MCL including NOTCH2. PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC | civic |
| 〃 | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11971This gene was identified as recurrently mutated in an analysis of 574 DLBCL exomes PMID 29641966 · Schmitz et al., 2018 · Open in CIViC | civic |
Data updated 4 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.
PMID 24145436 · Beà et al., 2013 · Open in CIViC
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| 〃 | Mantle Cell Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11892Through a meta-analysis of exome and whole genome sequencing data, this study identified 18 genes that were significantly enriched for mutations in MCL (including KMT2D). PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC | civic |
| (prognostic) | Mantle Cell Lymphoma | Prognostic | E | Does Not Support Poor Outcome | 3 | submitted | EID11896This study did not confirm a previous reported association between KMT2D mutation status and outcome (Supplemental Figure 5) PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC | civic |
| D |
| Supports Sensitivity Response |
| 1 |
| accepted |
EID1641In a study of 30 patients with Waldenström’s macroglobulinemia, 87% had MYD88(L265P) mutations. Waldenstrom macroglobulinemia cells expressing MYD88(L265P) were treated with an MYD88 homodimerization… (full text at CIViC) PMID 22931316 · Treon et al., 2012 · Open in CIViC |
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PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC
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| 〃 | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11970This gene was identified as recurrently mutated in an analysis of 574 DLBCL exomes PMID 29641966 · Schmitz et al., 2018 · Open in CIViC | civic |