Cancer Family
Hematopoietic and Lymphatic System Neoplasm
CI-CAN-00000022Explore in graph →
- NCIt
- C35813
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Cancer Family
CI-CAN-00000022Explore in graph →
Variants & evidence
2,012 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 |
|---|---|---|---|---|---|---|---|---|
| CCND1 Overexpression4 | ||||||||
| (prognostic) | Mantle Cell Lymphoma | 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 |
| Bortezomib | Multiple Myeloma | Predictive | C | Supports Sensitivity Response | 3 | submitted | EID7788Bone marrow specimens from 20/47 patients treated with bortezomib were analyzed. Researchers analyzed CCND1, CCND2, and CCND3 expression using real-time PCR. Results show all patients with CCND1 ove… (full text at CIViC) PMID 20578819 · Ngo et al., 2010 · Open in CIViC | civic |
| Palbociclib | Mantle Cell Lymphoma | 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 |
| 〃 | Mantle Cell Lymphoma | 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) PMID 16690963 · Marzec et al., 2006 · Open in CIViC | civic |
| CCND3 Loss1 | ||||||||
| Palbociclib | T Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID263Treatment of Notch-driven T-cell leukemia in Ccnd3 knockout mice with Palbociclib (PD-0332991) significantly increased median survival. PMID 23079656 · Sawai et al., 2012 · Open in CIViC | civic |
| CCND3 mutation2 | ||||||||
| (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 |
| 〃 | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11814Many mutations in CCND3 have been described in the cited study and other studies of BL PMID 30617194 · Grande et al., 2019 · Open in CIViC | civic |
| CD19 delta-ex2, delta-ex5-61 | ||||||||
| Tisagenlecleucel | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | D | Supports Resistance | 4 | submitted | EID9700In an in vitro study, cells transduced with CD19 delta5-6 and CD19 delta2 show significantly no response to CART-19 therapy compared to CD19-FL transduced cells. PMID 26516065 · Sotillo et al., 2015 · 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 |
| PDGFRB Fusion2 | ||||||||
| (oncogenic) | B Acute Lymphoblastic LeukemiaALIAS | Oncogenic | D | Supports Oncogenicity | 4 | submitted | EID13181A somatic out-of-frame CD74intr::PDGFRB rearrangement joined CD74 exon 1 to PDGFRB exon 11 and retained 75 bp of CD74 intronic sequence containing a premature stop codon. Rather than producing a conve… (full text at CIViC) PMID 36810896 · Sadras et al., 2023 · Open in CIViC | civic |
| Dasatinib | B Acute Lymphoblastic LeukemiaALIAS | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID13182A 22-month-old patient with high-risk Philadelphia chromosome-like B-cell acute lymphoblastic leukemia harboring CD74intr::PDGFRB had 46.3% residual bone marrow blasts at the end of induction therapy.… (full text at CIViC) PMID 36810896 · Sadras et al., 2023 · 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 |
| CD80 Overexpression1 | ||||||||
| Cisplatin + GaliximabCombination | B-Cell Non-Hodgkin Lymphoma | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID12554In a preclinical study using 5 CD80-overexpressing Burkitt B-cell lymphoma cell lines (Raji, Daudi, Ramos, DHL4, 2F7), treatment with the anti-CD80 monoclonal antibody galiximab (25–100 µg/mL) inhibit… (full text at CIViC) PMID 22267549 · Martinez-Paniagua et al., 2012 · 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 |
| CDKN2A Deletion1 | ||||||||
| (prognostic) | Acute Lymphoblastic Leukemia | Prognostic | B | Supports Poor Outcome | 4 | rejected | EID7985CDKN2A/B deletions were poor prognostic factors for both overall survival (OS) (HR = 2.15, 95% CI 1.82-2.54) and event-free survival (EFS)/disease-free survival (DFS)/relapse-free survival (RFS) (HR =… (full text at CIViC) PMID 30592434 · Zhang et al., 2019 · Open in CIViC | civic |
| CDKN2A Loss1 | ||||||||
| (prognostic) | Acute Lymphoblastic Leukemia | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID7986A total of thirteen studies including 2857 patients were combined in a meta-analysis. Combined HRs suggested that CDKN2A/B deletions were poor prognostic factors for both overall survival (OS) (HR = 2… (full text at CIViC) PMID 30592434 · Zhang et al., 2019 · Open in CIViC | civic |
| CDKN2A Mutation1 | ||||||||
| (oncogenic) | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11815Mutations have been described in several studies including the one cited. PMID 30617194 · Grande et al., 2019 · Open in CIViC | civic |
| CDKN2B METHYLATION1 | ||||||||
| (prognostic) | Acute Promyelocytic Leukemia | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID1848This study analyses 45 new acute promyelocytic leukemia patients (22 male and 23 female). CDKN2B was found to be a negative prognostic biomarker for disease free survival (DFS). The 5-year DFS was 9.6… (full text at CIViC) PMID 16307009 · Chim et al., 2006 · Open in CIViC | civic |
| CEBPA BIALLELIC INACTIVATION1 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Better Outcome | 5 | accepted | EID1512In a study of 1,540 patients with Acute Myeloid Leukemia, 66 patients (4%) had a CEBPA (biallelic) mutation. In the absence of gene fusion products, patients with biallelic CEBPA mutations showed the… (full text at CIViC) PMID 27276561 · Papaemmanuil et al., 2016 · Open in CIViC | civic |
| CEBPA Mutation12 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Better Outcome | 4 | accepted | EID167In young patients (age 16-60) with previously untreated, cytogenetically normal acute myeloid leukemia, CEBPA mutation was significantly associated with complete remission in multivariate analysis (od… (full text at CIViC) PMID 18450602 · Schlenk et al., 2008 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Better Outcome | 4 | accepted | EID467In children with acute myeloid leukemia, those with mutations in CEBPA had better overall and event-free survival and decreased cummulative incidence of relapse. PMID 19304957 · Ho et al., 2009 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | ||||||
| CEBPA N-TERMINAL FRAME SHIFT2 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Better Outcome | 3 | accepted | EID169Remission duration was significantly longer in younger (16-60), cytogenetically normal AML patients with CEBPA PMID 14726504 · Fröhling et al., 2004 · Open in CIViC | civic |
| OICR-9429 | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID1103This preclinical study establishes that the p30 isoform of CEBPA expressed as a result of N-terminal truncating mutations preferentially interacts with WRD5, a component of the SET/MLL complex. Knockd… (full text at CIViC) PMID 26167872 · Grebien et al., 2015 · Open in CIViC | civic |
| ABL1 Fusion1 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 2 | accepted | EID9078This study included 1389 cases of high-risk pediatric B-ALL, of which 284 were identified by TaqMan Low Density Array to have a BCR-ABL1-like (Ph-like) gene expression signature. RT-PCR or RNAseq perf… (full text at CIViC) PMID 28408464 · Reshmi et al., 2017 · Open in CIViC | civic |
| CHD8 mutation1 | ||||||||
| (oncogenic) | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11817Mutations in this gene have been described as a feature of some BLs as per this study PMID 30617194 · Grande et al., 2019 · Open in CIViC | civic |
| Positive2 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 3 | submitted | EID12040Samples from 395 patients with de novo or secondary AMP were processed by SNP arrays and chromothripsis was assessed using CTLP-Scanner. Patients were classified as either positive or negative for chr… (full text at CIViC) PMID 29472722 · Fontana et al., 2018 · Open in CIViC | civic |
| Chemotherapy | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | B | Supports Resistance | 3 | submitted | EID12041Chromothripsis defined a group of patients with poor prognosis. Samples from 395 patients with de novo or secondary AMP were processed by SNP arrays and chromothripsis was assessed using CTLP-Scanner.… (full text at CIViC) PMID 29472722 · Fontana et al., 2018 · 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 |
| High1 | ||||||||
| (prognostic) | Chronic Lymphocytic Leukemia | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID12038In a retrospective study of 5,290 chronic lymphocytic leukemia (CLL) patients where chromosome-banding analysis (CBA) data was available, karyotype complexity was assessed for clinical impact. Karyoty… (full text at CIViC) PMID 30602617 · Baliakas et al., 2019 · 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 | |||||||
| ABL1 Fusion2 | ||||||||
| (oncogenic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Oncogenic | C | Supports Oncogenicity | 2 | submitted | EID13001In a 56-year-old female diagnosed with B-lymphoblastic leukemia/lymphoma (B-ALL), transcriptome sequencing (RNA-seq) identified a CNTRL::ABL1 fusion. At diagnosis, the patient had a white blood cell c… (full text at CIViC) PMID 37103615 · Tan et al., 2023 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 2 | submitted | EID13002In a 15-year-old male with B-lymphoblastic leukemia/lymphoma (B-ALL), a novel CNTRL::ABL1 was identified during screening of 212 childhood B-cell acute lymphoblastic leukemia cases. Samples lacking kn… (full text at CIViC) PMID 33707599 · Hsu et al., 2021 · Open in CIViC | civic |
| CRBN Mutation1 | ||||||||
| Lenalidomide + PomalidomideSubstitutes | Multiple Myeloma | Predictive | C | Supports Resistance | 3 | accepted | EID1766A 37 year old, heavily pretreated (including thalidomide and lenalidomide) patient with IgG-kappa multiple myeloma was sequenced following extramedullary relapse. A high number of alterations were obs… (full text at CIViC) PMID 23480694 · Egan et al., 2013 · Open in CIViC | civic |
| CREBBP HAT mutation1 | ||||||||
| MTOR Inhibitor | Follicular Lymphoma | Predictive | B | Supports Sensitivity Response | 3 | submitted | EID12290Two phase II clinical trials examined mTOR inhibitors, everolimus (NCT00436618) or temsirolimus (NCT00290472) in relapsed/refractory FL. Tumour blocks were collected from these trials for 21 cases (15… (full text at CIViC) PMID 39188028 · Kumar et al., 2024 · Open in CIViC | civic |
Data updated 8 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.
| B |
| Supports Better Outcome |
| 4 |
| accepted |
EID468In a set of 315 pediatric patients with acute myeloid leukemia, 47 had mutations in CEBPA. Those with mutations had better overall survival than wild-type patients. PMID 25014773 · Matsuo et al., 2014 · Open in CIViC |
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| (diagnostic) | Acute Myeloid Leukemia with CEBPA MutationALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID12173In this 2022 study, the authors highlighted the diagnostic significance of different types of CEBPA mutations in 4,708 adult AML patients, recruited into the Study Alliance Leukemia trials and spannin… (full text at CIViC) PMID 34320176 · Taube et al., 2022 · Open in CIViC | civic |
| 〃 | Acute Myeloid Leukemia with CEBPA MutationALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID12174In this 2022 study, the authors investigated the diagnostic significance of CEBPA mutations in AML, focusing on data from a large cohort of 1,028 patients aged 70 years or younger from the Japanese Mu… (full text at CIViC) PMID 34448807 · Wakita et al., 2022 · Open in CIViC | civic |
| (prognostic) | Acute Myeloid Leukemia with CEBPA MutationALIAS | Prognostic | B | Supports Better Outcome | 4 | accepted | EID12231In this 2021 study, the authors examined the prognostic implications of CEBPA mutations in pediatric and young adult acute myeloid leukemia (AML) by analyzing 2958 patients enrolled in Children’s Onco… (full text at CIViC) PMID 33951732 · Tarlock et al., 2021 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Better Outcome | 3 | accepted | EID166In a group of young (<60 years old) acute myeloid leukemia (exclude acute promyelocytic leukemia) and high-risk MDS patients, those with CEBPA mutations (35/423) showed marginally improved overall sur… (full text at CIViC) PMID 19965647 · Burnett et al., 2010 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Better Outcome | 3 | accepted | EID168Overall survival and remission duration were significantly longer (p=0.01 and p=0.05, respectively) in younger (16-60), cytogenetically normal acute myeloid leukemia patients with CEBPA mutations (21/… (full text at CIViC) PMID 14726504 · Fröhling et al., 2004 · Open in CIViC | civic |
| (diagnostic) | Acute Myeloid Leukemia with CEBPA MutationALIAS | Diagnostic | B | Supports Positive | 3 | accepted | EID12172In this 2021 study, the authors investigated the role of CEBPA mutations in the diagnosis and prognosis of pediatric and young adult acute myeloid leukemia (AML) in 2958 patients enrolled in Children… (full text at CIViC) PMID 33951732 · Tarlock et al., 2021 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Diagnostic | D | Supports Negative | 3 | submitted | EID12175In this 2019 study, the authors investigated how the order of CEBPA mutations influences AML progression in mice that phenocopies the human disease transcriptionally and morphologically. The study rev… (full text at CIViC) PMID 31784538 · Braun et al., 2019 · Open in CIViC | civic |
| 〃 | Acute Myeloid Leukemia with CEBPA MutationALIAS | Diagnostic | D | Supports Positive | 3 | accepted | EID12200In this 2019 study, the authors investigated the diagnostic significance of CEBPA mutations in AML by analyzing how the order of these mutations influences disease development in a mouse model that re… (full text at CIViC) PMID 31784538 · Braun et al., 2019 · Open in CIViC | civic |
| Tretinoin | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | B | Does Not Support Sensitivity Response | 3 | accepted | EID122In a randomized trial of previously untreated younger (<60) patients with acute myeloid leukemia (excluding acute promyelocytic leukemia) and high-risk myelodysplastic syndrome CEBPA mutation status h… (full text at CIViC) PMID 19965647 · Burnett et al., 2010 · Open in CIViC | civic |
| 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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