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 |
|---|---|---|---|---|---|---|---|---|
| MYD88 L265P2 | ||||||||
| 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 | Predictive | 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 | civic |
| 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 |
| NRAS Mutation1 | ||||||||
| (prognostic) | Multiple Myeloma | Prognostic | B | Supports N/A | 4 | accepted | EID496In patients with multiple myeloma, the presence of a mutation in NRAS was not significantly associated with progression-free or overall survival. PMID 18528420 · Chng et al., 2008 · Open in CIViC | civic |
| NSD2 Mutation1 | ||||||||
| (oncogenic) | Mantle Cell Lymphoma | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11898Through a meta-analysis of exome and whole genome sequencing data, this study identified 18 genes that were significantly enriched for mutations in MCL including WHSC1 (NSD2). PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC | civic |
| OSBPL10 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11972This gene was identified as recurrently mutated in an analysis of 574 DLBCL exomes PMID 29641966 · Schmitz et al., 2018 · Open in CIViC | civic |
| P2RY8 mutation2 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11973This study performed exome sequencing on 55 DLBCL tumor samples and identified several significantly mutated genes including. PMID 22343534 · Lohr et al., 2012 · Open in CIViC | civic |
| 〃 | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11834Mutations in this gene are common in BL according to several studies PMID 25274307 · Muppidi et al., 2014 · Open in CIViC | civic |
| PCBP1 mutation1 | ||||||||
| (oncogenic) | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11833Described in several BL studies after this one PMID 26173642 · Wagener et al., 2015 · Open in CIViC | civic |
| PIM1 L2V1 | ||||||||
| Ibrutinib | Diffuse Large B-Cell Lymphoma Activated B-Cell Type | Predictive | D | Supports Resistance | 3 | accepted | EID9945Foundation panel results of baseline tumour samples from 48 patients with diffuse large B cell lymphoma identified PIM1 mutations in 6 patient samples, 5 of which were the DLBCL-ABC subtype. Four out … (full text at CIViC) PMID 27904766 · Kuo et al., 2016 · Open in CIViC | civic |
| PIM1 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11974This is one of the first of many genes identified as targets of aberrant somatic hypermutation in DLBCL PMID 11460166 · Pasqualucci et al., 2001 · Open in CIViC | civic |
| PIM1 P81S1 | ||||||||
| Ibrutinib | Diffuse Large B-Cell Lymphoma Activated B-Cell Type | Predictive | D | Supports Resistance | 3 | accepted | EID9946Foundation panel results of baseline tumour samples from 48 patients with diffuse large B cell lymphoma identified PIM1 mutations in 6 patient samples, 5 of which were the DLBCL-ABC subtype. Four out … (full text at CIViC) PMID 27904766 · Kuo et al., 2016 · Open in CIViC | civic |
| PIM1 S97N1 | ||||||||
| Ibrutinib | Diffuse Large B-Cell Lymphoma Activated B-Cell Type | Predictive | D | Supports Resistance | 3 | accepted | EID9947Foundation panel results of baseline tumour samples from 48 patients with diffuse large B cell lymphoma identified PIM1 mutations in 6 patient samples, 5 of which were the DLBCL-ABC subtype. Four out … (full text at CIViC) PMID 27904766 · Kuo et al., 2016 · Open in CIViC | civic |
| PIM2 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11975This gene was identified as recurrently mutated in an analysis of 574 DLBCL exomes PMID 29641966 · Schmitz et al., 2018 · Open in CIViC | civic |
| POU2AF1 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11976Through targeted sequencing of 22 genes and comparing matched follicular and diffuse large B-cell lymphoma transformation pairs, mutations in this gene were identified as more common in the matched DL… (full text at CIViC) PMID 30802265 · González-Rincón et al., 2019 · Open in CIViC | civic |
| POU2F2 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11977The 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 |
| PRDM1 MUTATION2 | ||||||||
| (prognostic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 2 | accepted | EID1638Biopsies from 520 DLBCL patients treated with R-CHOP were evaluated for PRDM1 mutations or protein (BLIMP-1) expression. Patients with a homozygous deletion of PRDM1 (7%, N=19) had a significantly sho… (full text at CIViC) PMID 27568520 · Xia et al., 2017 · Open in CIViC | civic |
| 〃 | Diffuse Large B-Cell LymphomaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 2 | accepted | EID1717In 177 patients with activated B-cell diffuse large B-cell lymphoma (ABC-DLBCL), PRDM1 mutations (N=46) were associated with worse overall (P=0.016) and progression-free (P=0.023) survival compared to… (full text at CIViC) PMID 27568520 · Xia et al., 2017 · Open in CIViC | civic |
| PRKCB Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11978The 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 |
| PRKDC Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11979This gene was identified as recurrently mutated in an analysis of 574 DLBCL exomes PMID 29641966 · Schmitz et al., 2018 · Open in CIViC | civic |
| PTEN Mutation1 | ||||||||
| (oncogenic) | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | civic | |
| RB1 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11980This 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 |
| REL AMPLIFICATION1 | ||||||||
| (diagnostic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Diagnostic | B | Supports Positive | 4 | accepted | EID409Amplification of REL 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 |
| RFX7 mutation1 | ||||||||
| (oncogenic) | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11831Described in multiple genome-wide studies of BL PMID 30617194 · Grande et al., 2019 · Open in CIViC | civic |
| RHOA MUTATION2 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11981One of the first genes found to be affected by aberrant somatic hypermutation in DLBCL PMID 11460166 · Pasqualucci et al., 2001 · Open in CIViC | civic |
| 〃 | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11830Described in multiple genome-wide studies of BL PMID 30617194 · Grande et al., 2019 · Open in CIViC | civic |
| S1PR1 Mutation1 | ||||||||
| (oncogenic) | Mantle Cell Lymphoma | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11903Through a meta-analysis of exome and whole genome sequencing data, this study identified 18 genes that were significantly enriched for mutations in MCL including S1PR1. PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC | civic |
| S1PR2 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11982This 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 |
| SETD1B Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11983This 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 |
| SGK1 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11910This 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 |
| SIN3A mutation2 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11984The 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 |
| 〃 | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11829Described in multiple genome-wide studies of BL PMID 30617194 · Grande et al., 2019 · Open in CIViC | civic |
| SMARCA4 Mutation2 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11985This 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 |
| 〃 | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11828Described in multiple genome-wide studies PMID 30617194 · Grande et al., 2019 · Open in CIViC | civic |
| SOCS1 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11986The authors found that approximately 25% of diffuse large B-cell lymphoma and follicular lymphomas had SOCS1 mutations and they concluded these were likely caused by aberrant somatic hypermutation PMID 19734449 · Mottok et al., 2009 · Open in CIViC | civic |
| SP140 Mutation1 | ||||||||
| (oncogenic) | Mantle Cell Lymphoma | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11901Through a meta-analysis of exome and whole genome sequencing data, this study identified 18 genes that were significantly enriched for mutations in MCL including SP140. PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC | civic |
| SPEN Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11987This 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 |
| STAT3 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11988The authors sequenced exons 19–24 of STAT3 (the region where the hot spot has been reported in other malignancies) in 48 diffuse large B-cell lymphoma samples. PMID 24837465 · Ohgami et al., 2014 · Open in CIViC | civic |
| STAT6 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11989The authors analyzed exome data from 38 relapsed DLBCLs and 138 diagnostic DLBCLs and identified genes enriched for mutations in the former relative to the latter. PMID 26647218 · Morin et al., 2016 · Open in CIViC | civic |
| TBL1XR1 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11990The authors applied exome sequencing to14 relapsed/refractory (R/R) DLBCL patients and implicated these genes PMID 26608593 · Mareschal et al., 2016 · 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 32160292 · Pararajalingam et al., 2020 · Open in CIViC
| civic |
| 〃 | 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 |