Hematologic Malignancy
B-Cell Non-Hodgkin Lymphoma
CI-CAN-00000471Explore in graph →
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Hematologic Malignancy
CI-CAN-00000471Explore in graph →
Variants & evidence
281 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 |
|---|---|---|---|---|---|---|---|---|
| EZH2 A682G + EZH2 A692V + EZH2 Y646C + EZH2 Y646F + EZH2 Y646H + EZH2 Y646N + EZH2 Y646S2 | ||||||||
| 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 | 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 |
| 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 | |
| FGFR3 F384L1 | ||||||||
| Midostaurin | Multiple Myeloma | Predictive | D | Supports Sensitivity Response | 2 | submitted | EID10410Cell line LP1 expressing FGFR3 F384L was treated with small molecule inhibitor PKC412, with relative viability rising above 1.1/1.0 at both 50 nM and 100 nM. Relative viability dropped to 0.96/1.0 at … (full text at CIViC) PMID 16091734 · Chen et al., 2005 · Open in CIViC | civic |
| FGFR3 G802_X807del + FGFR3 Fusion1 | ||||||||
| Erdafitinib | Multiple Myeloma | Predictive | C | Supports Sensitivity Response | 2 | submitted | EID11033Analysis of a single patient is reported from a phase II trial (NCT02952573) testing erdafitinib in relapsed/refractory myeloma patients with or without FGFR3 mutations. The single patient (52 year ol… (full text at CIViC) PMID 36639200 · Croucher et al., 2023 · Open in CIViC | civic |
| FGFR3 K508M1 | ||||||||
| (oncogenic) | Multiple Myeloma | Oncogenic | D | Does Not Support Oncogenicity | 2 | submitted | EID11804The study found that FGFR3 interacts with a regulatory subunit of PI3K, and this interaction negatively regulates the Ras/ERK/MAPK pathway in response to FGFR3 activity. This interaction could be a po… (full text at CIViC) PMID 19286672 · Salazar et al., 2009 · Open in CIViC | civic |
| FGFR3 K650E3 | ||||||||
| (oncogenic) | Multiple Myeloma | Oncogenic | D | Supports Oncogenicity | 1 | submitted | EID10383Xenografts of multiple myeloma cell line OPM2 (FGFR3 K650E) into nude mice resulted in tumor growth. PMID 19381019 · Qing et al., 2009 · Open in CIViC | civic |
| Midostaurin | Multiple Myeloma | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID10407PKC412 inhibited the growth of FGFR3 K650E-transformed Ba/F3 cells. Researchers introduced an N540D mutation to FGFR3-transformed Ba/F3 cells, which reduces inhibition of the FGFR3 K650E-transformed c… (full text at CIViC) PMID 16091734 · Chen et al., 2005 · Open in CIViC | civic |
| R3Mab | Multiple Myeloma | Predictive | D | Supports Sensitivity Response | 4 | submitted | EID10365In culture, monoclonal antibody R3Mab treatment inhibited the growth of multiple myeloma cell line UTMC-2 which has wild type FGFR3 but did not affect proliferation of multiple myeloma cell line KMS11… | |
| FGFR3 N540D1 | ||||||||
| Midostaurin | Multiple Myeloma | Predictive | D | Supports Resistance | 3 | submitted | EID10411Ba/F3 cells transformed with FGFR3 K650E or TEL-FGFR3 had mutation FGFR3 N540D introduced to determine whether the FGFR3 mutants were the critical targets for PKC412-mediated cytotoxicity. The cells t… (full text at CIViC) PMID 16091734 · Chen et al., 2005 · Open in CIViC | civic |
| FGFR3 Overexpression3 | ||||||||
| Dovitinib | Multiple Myeloma | Predictive | D | Does Not Support Sensitivity Response | 2 | submitted | EID12294Multiple myeloma (MM) is a neoplastic disorder of clonal B cells characterised by uncontrolled and aberrant proliferation of plasma cells within bone marrow, monoclonal protein in the blood or urine, … (full text at CIViC) PMID 25402977 · Scheid et al., 2015 · Open in CIViC | civic |
| R3Mab | Multiple Myeloma | Predictive | D | Supports Sensitivity Response | 4 | rejected | EID10363Pro-B Ba/F3 cells transfected with wild type FGFR3 resulted in Il-3 independence with FGF1 dependence for growth. Monoclonal antibody R3Mab treatment in addition to FGF1 resulted in suppression of pro… (full text at CIViC) PMID 19381019 · Qing et al., 2009 · Open in CIViC | civic |
| 〃 | Multiple Myeloma | Predictive | D | Supports Sensitivity Response | 4 | |||
| FGFR3 Y373C3 | ||||||||
| (oncogenic) | Multiple Myeloma | Oncogenic | D | Supports Oncogenicity | 2 | submitted | EID10385Ba/F3 cells transfected with wild type FGFR3 or common bladder carcinoma variant FGFR3 Y375C both resulted in IL-3 independence with FGF1 dependence for growth. However, tumors grew when multiple myel… (full text at CIViC) PMID 19381019 · Qing et al., 2009 · Open in CIViC | civic |
| Midostaurin | Multiple Myeloma | Predictive | D | Supports Sensitivity Response | 2 | submitted | EID10408t(4;14) positive multiple myeloma cell line OPM-1 and KMS11 expressing FGFR3 Y373C were inhibited by PKC412, with relative viability dropping to 0.9/1.0 at 100 nM, 0.8/1.0 to 200 nM, 0.58/1.0 at 400 … (full text at CIViC) PMID 16091734 · Chen et al., 2005 · Open in CIViC | civic |
| R3Mab | Multiple Myeloma | Predictive | D | Supports Sensitivity Response | 4 | submitted | ||
| 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 |
| 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 |
Data updated 21 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 19381019 · Qing et al., 2009 · Open in CIViC
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| submitted |
EID10364Pro-B Ba/F3 cells transfected with wild type FGFR3 resulted in Il-3 independence with FGF1 dependence for growth. Monoclonal antibody R3Mab treatment in addition to FGF1 resulted in suppression of pro… (full text at CIViC) PMID 19381019 · Qing et al., 2009 · Open in CIViC |
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EID10366In culture, monoclonal antibody R3Mab treatment inhibited the growth of multiple myeloma cell line UTMC-2 which has wild type FGFR3 but did not affect proliferation of multiple myeloma cell line KMS11… (full text at CIViC) PMID 19381019 · Qing et al., 2009 · Open in CIViC |
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| 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 |
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