Cancer Family
B-Cell Malignant Neoplasm
CI-CAN-00000070Explore in graph →
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Cancer Family
CI-CAN-00000070Explore in graph →
Variants & evidence
663 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 |
|---|---|---|---|---|---|---|---|---|
| ALK Fusion2 | ||||||||
| 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 LymphomaCURATED_BROADER | 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 | civic |
| 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 |
| CREBBP Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11927This study showed that CREBBP and EP300 were recurrently mutated in DLBCL PMID 21390126 · Pasqualucci et al., 2011 · Open in CIViC | civic |
| CRLF2 F232C2 | ||||||||
| (prognostic) | Adult B Acute Lymphoblastic LeukemiaALIAS | Prognostic | D | Supports Poor Outcome | 4 | submitted | EID6094In vitro expression experiments of CRLF2 F232C in murine BaF3 cells and human UT7 cells show that this mutation leads to constitutive dimerization and cytokine-independent signaling. This leads to tra… (full text at CIViC) PMID 20018760 · Yoda et al., 2010 · Open in CIViC | civic |
| JAK Inhibitor I | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 4 | submitted | EID7210The CRLF2 Phe232Cys somatic mutation was identified in 3/14 adult B-ALL specimens overexpressing CRLF2. Functional studies in BaF3 cells demonstrated constitutive dimerization, and retains ability to … (full text at CIViC) PMID 20018760 · Yoda et al., 2010 · Open in CIViC | civic |
| CSF1R RCSD1::ABL21 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Diagnostic | C | Supports Positive | 3 | rejected | civic | |
| CTAG1B Overexpression1 | ||||||||
| Letetresgene Autoleucel | Multiple Myeloma | Predictive | B | Supports Sensitivity Response | 3 | accepted | EID2940Clinical responses to NY-ESO-1/LAGE-1 TCR-engineered T-cells were observed in 16 of 20 patients (80%) with advanced multiple myeloma expressing NY-ESO-1 and/or LAGE-1 in this Phase 1/2a trial showing … (full text at CIViC) PMID 26193344 · Rapoport et al., 2015 · Open in CIViC | civic |
| CTAG2 Overexpression1 | ||||||||
| Letetresgene Autoleucel | Multiple Myeloma | Predictive | B | Supports Sensitivity Response | 3 | accepted | EID2941Clinical responses to NY-ESO-1/LAGE-1 TCR-engineered T-cells were observed in 16 of 20 patients (80%) with advanced multiple myeloma expressing NY-ESO-1 and/or LAGE-1 in this Phase 1/2a trial showing … (full text at CIViC) PMID 26193344 · Rapoport et al., 2015 · Open in CIViC | civic |
| CXCR4 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11939Identified from whole genome sequencing of DLBCL PMID 23131835 · Khodabakhshi et al., 2012 · Open in CIViC | civic |
| DAZAP1 mutation1 | ||||||||
| (oncogenic) | Mantle Cell Lymphoma | 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 |
| DDX3X D347G1 | ||||||||
| (oncogenic) | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11812DDX3X mutations are one of the most common somatic alterations in BL. This is just an arbitrarily chosen example of a mutation observed in the cited study. PMID 30617194 · Grande et al., 2019 · Open in CIViC | civic |
| DDX3X Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11940Identified from exome sequencing of 574 DLBCL biopsies PMID 29641966 · Schmitz et al., 2018 · Open in CIViC | civic |
| DTX1 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11941Identified as recurrently mutated in an analysis of 574 DLBCL exomes PMID 29641966 · Schmitz et al., 2018 · Open in CIViC | civic |
| DUSP2 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 2 | submitted | EID11942This 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 |
| DUX4 Fusion + DUX4 Fusion1 | ||||||||
| (diagnostic) | B Acute Lymphoblastic Leukemia with DUX4 RearrangementALIAS | Diagnostic | B | Supports Positive | 4 | submitted | EID11523Integrated genomic analysis of was performed for 1,988 childhood and adult B-ALL cases. 106 cases (5.3%) showed DUX4 rearrangements, commonly with the IGH region. These cases were characterized by a u… (full text at CIViC) PMID 30643249 · Gu et al., 2019 · Open in CIViC | civic |
| JAK2 Fusion1 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 3 | accepted | EID7672In the study involving 1725 B-ALL patients, 264 were identified by microarray-based algorithm to have a Ph-like expression signature. Next generation sequencing (RNAseq, WGS, and/or WES) performed on … (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC | civic |
| EBF1 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11999This 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 |
| PDGFRB Fusion6 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 3 | submitted | EID11625B-ALL cases with high-risk clinical features or suggestion of a kinase rearrangement were subjected to low density gene expression array to determine Ph-like status. 3 patients (ages 6, 14.4, and 19.… (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC | civic |
| Imatinib | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID1310A 10-year-old boy with B-cell acute lymphoblastic leukemia refractory to conventional chemotherapy and harboring an EBF1-PDGFRB fusion responded to imatinib plus induction chemotherapy (vincristine, d… (full text at CIViC) PMID 23835704 · Weston et al., 2013 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Predictive | C | Supports | ||||
| EIF4A1 mutation1 | ||||||||
| (oncogenic) | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11838Recurrence of mutations confirmed by multiple studies PMID 31558468 · Panea et al., 2019 · Open in CIViC | civic |
| EP300 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11928This study showed that CREBBP and EP300 were recurrently mutated in DLBCL PMID 21390126 · Pasqualucci et al., 2011 · Open in CIViC | civic |
| EPOR Overexpression1 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | A | Supports Positive | 3 | submitted | EID7023The study showed that the EPOR gene rearrangements with immunoglobulin loci are associated with Ph-like molecular subtype of B-ALL, characterized by a gene-expression profile similar to that of the BC… (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC | civic |
| EPOR rearrangements1 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | B | Supports Positive | 4 | accepted | EID12397This 2017 study is result of collaboration of multiple institutions and was led by St. Jude Children's Research Hospital team. The total cohort of 3115 B-ALL patients (all ages) was studied, with 212 … (full text at CIViC) PMID 26859458 · Iacobucci et al., 2016 · Open in CIViC | civic |
| ETS1 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11931This 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 |
| ABL1 Fusion4 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | B | Supports Positive | 4 | accepted | EID9073This study determined the incidence, clinical characteristics and associated genetic abnormalities in hematologic malignancies with the ETV6-ABL1 fusion. The total of 44 new and previously published E… (full text at CIViC) PMID 27229714 · Zaliova et al., 2016 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 2 | submitted | EID11614B-ALL cases with high-risk clinical features or suggestion of a kinase rearrangement were subjected to low density gene expression array to determine Ph-like status. 2 of 2 patients (ages 5 and 82 ye… (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC | civic |
| Dasatinib | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | ||||||
| ABL2 Fusion1 | ||||||||
| (oncogenic) | B Acute Lymphoblastic LeukemiaALIAS | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID12493In a study of 176 ALL patients, consisting of 136 B- and 40 T-lineage, multiplex nested RT-PCR was used to look for ETV6 fusions. One patient had ETV6::ABL2 fusion. Patient was a 17 year old with kary… (full text at CIViC) PMID 22373549 · Zhou et al., 2012 · Open in CIViC | civic |
| JAK2 Fusion3 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 4 | accepted | EID8102In this study which included 1389 cases of high-risk pediatric B-ALL, 284 were identified by TaqMan Low Density Array to have a Ph-like gene expression signature. RT-PCR or RNAseq performed on CRLF2 n… (full text at CIViC) PMID 28408464 · Reshmi et al., 2017 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 3 | accepted | EID7696In the study involving 1725 B-ALL patients, 264 were identified by microarray-based algorithm to have a Ph-like expression signature. Next generation sequencing (RNAseq, WGS, and/or WES) performed on … (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports | ||||
| NTRK3 Fusion6 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 1 | submitted | EID12295Philadelphia chromosome-like (Ph-like) acute lymphoblastic leukemia (ALL) is a high-risk subtype characterised by genomic alterations that activate cytokine receptor and kinase signaling. The author e… (full text at CIViC) PMID 28408464 · Reshmi et al., 2017 · Open in CIViC | civic |
| (oncogenic) | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Oncogenic | D | Supports Oncogenicity | 4 | accepted | EID8931The tyrosine kinase domain of NTRK3 was inserted into exon 6 of Etv6 to create conditional knock-in Etv6-NTRK3 mice . Expression was induced in pre-b cells during lymphoid development by CD19-Cre. Fus… (full text at CIViC) PMID 29880614 · Roberts et al., 2018 · Open in CIViC | civic |
| Larotrectinib | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | |||||||
| RUNX1 Fusion4 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1ALIAS | Diagnostic | A | Supports Positive | 5 | accepted | EID8599ETV6-RUNX1 rearranged leukemia is a well established diagnostic entity in the WHO classification of leukemia. It is designated as B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUN… (full text at CIViC) PMID 27069254 · Arber et al., 2016 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1ALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID12293In this study, the authors investigated the role of the ETV6::RUNX1 fusion in the diagnosis of B-lymphoblastic leukemia/lymphoma. B-ALL is a heterogeneous disease, and identifying cytogenetic abnormal… (full text at CIViC) PMID 9226156 · Borkhardt et al., 1997 · Open in CIViC | civic |
| 〃 | ||||||||
Data updated 17 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.
| 2 |
| submitted |
EID7127EBF1-PDGFRB fusion was detected in leukemia cells of a 6 year old male who presented with B-ALL and an initial WBC of 244,400. He received 4-drug induction chemotherapy but failed to enter remission w… (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC |
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| 〃 | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID12644In a group of 73 of Dutch and German children with Ph-Like B Cell Precursor ALL, 12 tyrosine kinase-activating fusion genes were found. 4 of the Fusions were EBF1::PDGFRB. Leukemic cells taken from t… (full text at CIViC) | civic |
| Chemotherapy + ImatinibCombination | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID8260A 9 year old girl with B-lymphoblastic leukemia/ lymphoma (2016 WHO) relapsed 15 months post-maintenance chemotherapy. FISH and genomic analysis detected the EBF1-PDGFRB fusion (exon 11 with Exon14). … (full text at CIViC) PMID 32068648 · Sakurai et al., 2021 · Open in CIViC | civic |
| Dasatinib + ImatinibSubstitutes | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Predictive | C | Supports Sensitivity Response | 2 | accepted | EID7128The EBF1-PDGFRB fusion was detected in leukemia cells of a 7 year old Latino boy who presented with B-ALL and initial WBC of 600,000. He failed to enter remission with 4 drug induction (90% blasts at … (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC | civic |
| C |
| Supports Sensitivity Response |
| 2 |
| accepted |
EID6969An adult patient (82 yo) who presented with B-ALL (initial WBC of 183,000) with ETV6-ABL1 fusion was treated with dasatinib as a single agent after his chemotherapy had to be stopped due to toxicity. … (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC |
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| Imatinib | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID9171A 4-year-old female presented with relapsed B-cell precursor ALL and no MLL or BCR-ABL1 rearrangement per cytogenetic studies. During multiple periods of short remission and relapse she was treated wi… (full text at CIViC) PMID 30028819 · Mankuzhy et al., 2019 · Open in CIViC | civic |
| 3 |
| accepted |
EID8097In B-lymphoblastic leukemia/lymphoma (B-ALL), the presence of this fusion is associated with so-called BCR/ABL1 like (Ph-like) subtype of the disease. In this study involving 798 B-ALL patients of whi… (full text at CIViC) PMID 27870571 · Roberts et al., 2017 · Open in CIViC |
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| Predictive |
| C |
| Supports Sensitivity Response |
| 3 |
| accepted |
EID7993Case report of a 61-year-old man with B-ALL. An initial analysis detected the ETV6-NTRK3 fusion and a NRASGly12Asp mutation. Initial therapies included chemotherapy and CAR-T infusion. Relapse 6 weeks… (full text at CIViC) PMID 31905241 · Nardi et al., 2020 · Open in CIViC |
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| 〃 | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 4 | accepted | EID6930Both in vivo and in vitro models demonstrated Larotrectinib was an effective treatment against cells harboring ETV6-NTRK3. In YFP-luciferase PDX mice from a 16-year-old with Ph-like B-ALL, flow cytome… (full text at CIViC) PMID 29880614 · Roberts et al., 2018 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID8930Conventional cytogenetics, FISH, and an Abbott break-apart probe of a peripheral blood sample collected at diagnosis of a 6-year-old boy with B-cell ALL and CNS infiltration (National Cancer Institute… (full text at CIViC) PMID 31725893 · Schewe et al., 2019 · Open in CIViC | civic |
| Etoposide + Larotrectinib + MethotrexateCombination | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | C | Supports Sensitivity Response | 4 | accepted | EID8917All lines of conventional therapy (including allogeneic HSCT, blinatumomab, and CAR T cells) were inefficient for a 6-year-old boy with B-cell ALL and CNS infiltration (National Cancer Institute high … (full text at CIViC) PMID 31725893 · Schewe et al., 2019 · Open in CIViC | civic |
| B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1ALIAS |
| Diagnostic |
| B |
| Supports Positive |
| 4 |
| accepted |
EID12375In this study, the authors investigated the t(12;21)(p13;q22) in pediatric acute lymphoblastic leukemia (ALL). The t(12;21) is typically not visible by karyotype analysis and is rarely detected by con… (full text at CIViC) PMID 8609706 · Shurtleff et al., 1995 · Open in CIViC |
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| Not Applicable | B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1ALIAS | Predictive | B | Supports Adverse Response | 4 | accepted | EID12374In this study, the authors characterized the TEL (currently ETV6)::AML1 (currently RUNX1) gene fusion in B-lymphoblastic leukemia (B-ALL) with the t(12;21)(p12;q22) using cytogenetic and molecular met… (full text at CIViC) PMID 7780150 · Romana et al., 1995 · Open in CIViC | civic |