Hematologic Malignancy
Mantle Cell Lymphoma
CI-CAN-00005962MCLExplore in graph →
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Hematologic Malignancy
CI-CAN-00005962MCLExplore in graph →
Variants & evidence
33 evidence items mapped to this entity or its descendants, grouped by molecular profile, then therapy. 50 items per page.
| Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|
| ATM Mutation1 | |||||||
| Olaparib | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID1907Two ATM deficient mantle cell lymphoma (MCL) cell lines were more sensitive to PARP-1 inhibition with olaparib or PJ-34 than 4 other MCL cell lines. shRNA mediated ATM knockdown in a cell line increas… (full text at CIViC) PMID 20124459 · Williamson et al., 2010 · Open in CIViC | civic |
| ATM Oncogenic Mutations (loss of function alterations)1 | |||||||
| (oncogenic) | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11842Mantle cell lymphoma is characterized by inactivation of the ATM gene PMID 10706620 · Schaffner et al., 2000 · Open in CIViC | civic |
| B2M Mutation1 | |||||||
| (oncogenic) | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11891Through a meta-analysis of exome and whole genome sequencing data, this study identified 18 genes that were significantly enriched for mutations in MCL. PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC | civic |
| BIRC3 mutation1 | |||||||
| (oncogenic) | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11843BIRC3 mutations have been described in MCL in multiple studies PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC | civic |
| CARD11 MUTATION1 | |||||||
| (oncogenic) | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11844Genetic heterogeneity in primary and relapsed mantle cell lymphomas: Impact of recurrent CARD11 mutations PMID 27224912 · Wu et al., 2016 · Open in CIViC | civic |
| CCND1 Overexpression3 | |||||||
| (prognostic) | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID358Cyclin D1 overexpression is associated with shorter overall survival and increased metastasis in mantle cell lymphoma. PMID 17891190 · Jares et al., 2007 · Open in CIViC | civic |
| Palbociclib | Predictive | B | Does Not Support Sensitivity Response | 2 | accepted | EID1536A pharmacodynamic study (NCT00420056) of 17 mantle cell lymphoma MCL patients was performed using the CDK4/6 inhibitor palbociclib (PD0332991). Patients were verified by IHC, FISH or molecular testing… (full text at CIViC) PMID 22383795 · Leonard et al., 2012 · Open in CIViC | civic |
| 〃 | Predictive | D | Supports Sensitivity Response | 1 | accepted | EID1563In Mantle Cell Lymphoma (MCL), t(11:14)-induced overexpression of cyclin D1 was targeted by CDK4/6 inhibitor Palbociclib (PD0332991). Palbociclib caused Rb dephosphorylation in MCL cell lines and pati… (full text at CIViC) | |
| DAZAP1 mutation1 | |||||||
| (oncogenic) | 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 |
| EWSR1 mutation1 | |||||||
| (oncogenic) | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11846Somewhat rare but recurrent mutations have been described PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC | civic |
| HNRNPH1 non-coding mutations2 | |||||||
| (prognostic) | 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) | 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 |
| KMT2D mutation3 | |||||||
| (oncogenic) | 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 … (full text at CIViC) PMID 24145436 · Beà et al., 2013 · Open in CIViC | civic |
| 〃 | 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) | 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 · | |
| MEF2B mutation1 | |||||||
| (oncogenic) | 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 |
| NFKBIE Mutation1 | |||||||
| (oncogenic) | 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 |
| NOTCH1 Mutation3 | |||||||
| (prognostic) | 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 |
| 〃 | 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) | 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. PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC | |
| NOTCH2 Mutation1 | |||||||
| (oncogenic) | 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 |
| NSD2 Mutation1 | |||||||
| (oncogenic) | 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 |
| S1PR1 Mutation1 | |||||||
| (oncogenic) | 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 |
| SP140 Mutation1 | |||||||
| (oncogenic) | 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 |
| TP53 Mutation2 | |||||||
| (prognostic) | Prognostic | E | Supports Poor Outcome | 4 | submitted | EID11894This study confirmed clinical associations between TP53 and NOTCH1 with poor outcome. PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC | civic |
| (oncogenic) | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11893Through a meta-analysis of exome and whole genome sequencing data, this study identified 18 genes that were significantly enriched for mutations in MCL (including TP53). PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC | civic |
| UBR5 Mutation1 | |||||||
| (oncogenic) | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11897Through a meta-analysis of exome and whole genome sequencing data, this study identified 18 genes that were significantly enriched for mutations in MCL including UBR5. This gene has also been reported… (full text at CIViC) PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC | civic |
| ZEB1 Expression6 | |||||||
| (prognostic) | Prognostic | B | Supports Poor Outcome | 3 | submitted | EID12499In a tissue micro array from 46 cases histologically classified as MCL according to WHO criteria, 50% were positive for ZEB1 expression. ZEB1 expression correlated with beta catenin (Spearman correlat… (full text at CIViC) PMID 24013721 · Sánchez-Tilló et al., 2014 · Open in CIViC | civic |
| (oncogenic) | Oncogenic | D | Supports Oncogenicity | 2 | submitted | EID12501In a tissue micro array from 46 cases histologically classified as MCL according to WHO criteria, 50% were positive for ZEB1 expression. ZEB1 expression correlated with beta catenin (Spearman correlat… (full text at CIViC) PMID 24013721 · Sánchez-Tilló et al., 2014 · Open in CIViC | civic |
| Cytarabine + Doxorubicin + GemcitabineSubstitutes | Predictive | D | Supports Resistance | 2 | accepted | ||
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 16690963 · Marzec et al., 2006 · Open in CIViC
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Downregulation of ZEB1 expression in mantle cell lymphoma cell lines and mouse xenografts led to enhanced sensitivity towards treatment with doxorubicin, cytarabin and gemcitabine.
PMID 24013721 · Sánchez-Tilló et al., 2014 · Open in CIViC
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| Doxorubicin + SalinomycinCombination | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID900Downregulation of ZEB1 expression in mantle cell lymphoma cell lines and mouse xenografts led to enhanced sensitivity towards treatment with doxorubicin, cytarabin and gemcitabine. the combination of … (full text at CIViC) PMID 24013721 · Sánchez-Tilló et al., 2014 · Open in CIViC | civic |
| Salinomycin | Predictive | D | Supports Sensitivity Response | 2 | submitted | EID12500In a tissue micro array from 46 cases histologically classified as MCL according to WHO criteria, 50% were positive for ZEB1 expression. ZEB1 expression correlated with beta catenin (Spearman correlat… (full text at CIViC) PMID 24013721 · Sánchez-Tilló et al., 2014 · Open in CIViC | civic |
| Vincristine | Predictive | D | Does Not Support Resistance | 2 | submitted | EID12502In ZEB1 positive MCL cell line Granta-519, cells were treated with control shRNA or shZEB1, and then incubated with varying concentrations of vincristine. No difference in cell viability was seen over… (full text at CIViC) PMID 24013721 · Sánchez-Tilló et al., 2014 · Open in CIViC | civic |