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 |
|---|---|---|---|---|---|---|---|---|
| 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 |
| NT5C2 R238W1 | ||||||||
| Mercaptopurine + ThioguanineSubstitutes | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | D | Supports Resistance | 2 | submitted | EID8077Lentiviral-mediated overexpression of NT5C2 R238W (a relapse specific variant) in Reh cells resulted in resistance against thiopurines (mercaptopurine and thioguanine) compared to NT5C2 wildtype overe… (full text at CIViC) PMID 25962120 · Li et al., 2015 · Open in CIViC | civic |
| ABL1 Fusion2 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 2 | accepted | EID9079This 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 |
| 〃 | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 1 | submitted | EID11616B-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. 1 patient (12.1 years old) with a… (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC | civic |
| ABL1 Fusion10 | ||||||||
| (prognostic) | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Prognostic | B | Supports Better Outcome | 3 | accepted | EID9148A multicenter, retrospective, cohort study that included 122 pediatric patients (aged 1-18 years) with newly diagnosed ABL-class fusion B-cell acute lymphocytic leukemia who had not received tyrosine-… (full text at CIViC) PMID 33357483 · den Boer et al., 2021 · Open in CIViC | civic |
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 2 | accepted | EID9074Transcriptome and whole genome sequencing were performed on 15 cases of B-lymphoblastic leukemia/lymphoma (B-ALL) that were previously shown to have a BCR-ABL1-like (Ph-like) expression signature. Two… (full text at CIViC) PMID 22897847 · Roberts et al., 2012 · Open in CIViC | civic |
| Dasatinib | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Predictive | ||||||
| JAK2 Fusion2 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 2 | accepted | EID7997To identify potentially druggable kinase fusions, this study of 278 B-ALL patients (all BCR-ABL1 negative), 34 (12.2%) harbored an IKZF1 deletion as determined by MLPA. Sufficient RNA from 16/34 of th… (full text at CIViC) PMID 26404892 · Yano et al., 2015 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 2 | accepted | EID8104In this study involving 373 high risk pediatric B-ALL cases with no recurrent fusions, 29 were kinase-fusion positive as determined by mRNA-seq or mRT-PCR and validated by RT-PCR and Sanger. One case,… (full text at CIViC) PMID 27176795 · Imamura et al., 2016 · 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 |
| CRLF2 Fusion4 | ||||||||
| (prognostic) | Adult B Acute Lymphoblastic LeukemiaALIAS | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID7211CRLF2 overexpression was examined in 90 adult B-ALL patients with demographic data that lacked characteristic rearrangements and identified overexpression in 15/90 (16.67%). Disease-free survival was … (full text at CIViC) PMID 20018760 · Yoda et al., 2010 · Open in CIViC | civic |
| (diagnostic) | Adult B Acute Lymphoblastic LeukemiaALIAS | Diagnostic | B | Supports Positive | 4 | submitted | EID7213CRLF2 overexpression was performed by Q-PCR, IHC, and gene-expression profiling of 254 adult B-ALL samples. CRLF2 overexpression was identified in 15/120 (12.5%) or adult B-ALL cases that lacked chara… (full text at CIViC) PMID 20018760 · Yoda et al., 2010 · Open in CIViC | civic |
| (prognostic) | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | |||||||
| 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 |
| ABL2 Fusion2 | ||||||||
| (oncogenic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Oncogenic | C | Supports Oncogenicity | 2 | submitted | EID9721In 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 | Oncogenic | C | Supports Oncogenicity | 2 | submitted | EID12872In a study using whole genome, exome and transcriptome sequencing of 2,754 childhood ALL patients, one patient with Ph-like B-ALL had PAG1::ABL2 reported. Patient ID was SJBALL020980. RNAseq, WES, WGS… (full text at CIViC) PMID 36050548 · Brady et al., 2022 · Open in CIViC | civic |
| AUTS2 Fusion1 | ||||||||
| (prognostic) | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID12838The PAX5::AUTS2 represents a rare primary oncogenic driver in B-lymphoblastic Leukemia/lymphoma (B-ALL). An international cohort of 50 patients—including 16 previously reported cases—was assembled, w… (full text at CIViC) PMID 39702796 · Caye-Eude et al., 2025 · Open in CIViC | civic |
| JAK2 Fusion6 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | B | Supports Positive | 3 | accepted | EID7699In 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 Positive | 3 | accepted | EID7700In 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 | ||||
| PAX5 P80R4 | ||||||||
| (diagnostic) | B Acute Lymphoblastic Leukemia with PAX5 P80R MutationALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID11519RNA-seq transcriptome analysis in a discovery cohort of 170 B-cell precursor acute lymphoblastic leukemia (BCP-ALL) cases negative for the common classifying cytogenetic aberrations identified severa… (full text at CIViC) PMID 30510083 · Passet et al., 2019 · Open in CIViC | civic |
| 〃 | B Acute Lymphoblastic Leukemia with PAX5 P80R MutationALIAS | Diagnostic | B | Supports Positive | 3 | accepted | EID7290In a large-scale international study RNA sequencing was performed to delineate the transcriptome landscape of 1,223 B-cell ALL cases. Twenty two cases were found to have P80R misense mutation in the D… (full text at CIViC) PMID 30487223 · Li et al., 2018 · Open in CIViC | civic |
| 〃 | B Acute Lymphoblastic Leukemia with PAX5 P80R Mutation | |||||||
| 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 |
| JAK2 Fusion1 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 3 | accepted | EID7704The PCM1-JAK2 fusion is typically associated with 'myeloid/lymphoid neoplasms with eosinophilia and gene rearrangements', which is a specific disease entity according to WHO classification. However, i… (full text at CIViC) PMID 28408464 · Reshmi et al., 2017 · 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 |
| PLCG2 D1140E1 | ||||||||
| Venetoclax | Chronic Lymphocytic Leukemia | Predictive | C | Supports Resistance | 2 | submitted | EID10372The effective cohort in this study was 11 CLL patients who were first treated with ibrutinib and then on progression treated with venetoclax until progression. Patient samples were sequenced before an… (full text at CIViC) PMID 32232486 · Lucas et al., 2020 · Open in CIViC | civic |
| PLCG2 MUTATION1 | ||||||||
| (prognostic) | Chronic Lymphocytic Leukemia | Prognostic | B | Supports Poor Outcome | 5 | accepted | EID5834Whole exome sequencing was performed on baseline and relapse samples from six patients with CLL. One relapse sample had mutations in BTK and PLCG2, and a second relapse sample only had a mutation in … (full text at CIViC) PMID 24869598 · Woyach et al., 2014 · Open in CIViC | civic |
| PLCG2 N571S1 | ||||||||
| Venetoclax | Chronic Lymphocytic Leukemia | Predictive | C | Supports Resistance | 2 | submitted | EID10371The effective cohort in this study was 11 CLL patients who were first treated with ibrutinib and then on progression treated with venetoclax until progression. Patient samples were sequenced before an… (full text at CIViC) PMID 32232486 · Lucas et al., 2020 · Open in CIViC | civic |
| POT1 MUTATION1 | ||||||||
| (prognostic) | Chronic Lymphocytic Leukemia | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID1590In previously untreated patients with chronic lymphocytic leukemia, POT1 mutations (N=13) were associated with shorter overall survival than wildtype POT1 (N=148) in univariate and multivariate analys… (full text at CIViC) PMID 27226433 · Herling et al., 2016 · Open in CIViC | civic |
Data updated 12 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.
| Supports Sensitivity Response |
| 3 |
| submitted |
EID13328Of 40 patients with BCR::ABL1-like (Ph-like) B-cell acute lymphoblastic leukemia (B-ALL), one 16-year-old male was found to have a NUP214::ABL1 fusion identified by genomic profiling (RT-PCR, next-gen… (full text at CIViC) PMID 25049327 · Roberts et al., 2014 · Open in CIViC |
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| 〃 | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Predictive | C | Supports Sensitivity Response | 3 | submitted | EID13327A 26-year-old female with Philadelphia chromosome-like (Ph-like) B-cell acute lymphoblastic leukemia (B-ALL) had a NUP214::ABL1 fusion detected by a next-generation sequencing panel experienced persis… (full text at CIViC) PMID 31014138 · Aldoss et al., 2019 · Open in CIViC | civic |
| Dasatinib + ImatinibSubstitutes | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID12385Functional activity and treatment response were evaluated for several fusions identified in patients with gene expression profiles showing BCR::ABL1-like B-ALL. Phosphoflow on leukemic samples from 2 … (full text at CIViC) PMID 22897847 · Roberts et al., 2012 · Open in CIViC | civic |
| Dasatinib + NilotinibSequential | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Predictive | C | Supports Sensitivity Response | 3 | submitted | EID13329A 21-year-old patient with refractory B-cell acute lymphoblastic leukemia (B-ALL) had a NUP214::ABL1 fusion identified by clinical next-generation sequencing failed multiple prior treatment regimens, … (full text at CIViC) PMID 37933765 · Shumock et al., 2023 · Open in CIViC | civic |
| Dasatinib + Dexamethasone + VincristineCombination | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Predictive | C | Supports Sensitivity Response | 2 | accepted | EID7208A 15-year-old girl with B-cell precursor ALL was placed into the very high risk group after showing corticoid resistance on treatment day 8, and induction failure on day 35 (MRD >0.01). The patient re… (full text at CIViC) PMID 26681761 · Duployez et al., 2016 · Open in CIViC | civic |
| Dasatinib + ImatinibCombination | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Predictive | B | Supports Sensitivity Response | 3 | submitted | EID13330In a cohort of six patients with NUP214::ABL1-positive Ph-like B-ALL, detected by multiplex molecular assays for fusion transcript identification, including RNA sequencing, treatment with ABL-directed… (full text at CIViC) PMID 31434701 · Tanasi et al., 2019 · Open in CIViC | civic |
| Imatinib Mesylate | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | C | Supports Sensitivity Response | 4 | accepted | EID12218A 15-year-old male was diagnosed with B-cell ALL with a normal male karyotype by microarray (no aberrations >5Mb), normal FISH (including BCR::ABL1 and ABL1 breakapart) and aberrant phenotype B-lympho… (full text at CIViC) PMID 36172171 · Stukaite-Ruibiene et al., 2022 · Open in CIViC | civic |
| Dasatinib + Imatinib + Nilotinib + PonatinibSubstitutes | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | D | Does Not Support Sensitivity Response | 2 | accepted | EID9150A 22-year-old male with B-cell acute lymphoblastic leukemia was treated with induction therapy. FISH using a BCR-ABL1 probe demonstrated 50-80 extrachromosomal copies of ABL1; FISH using probes to the… (full text at CIViC) PMID 23175662 · Eyre et al., 2012 · Open in CIViC | civic |
| Prognostic |
| B |
| Supports Poor Outcome |
| 3 |
| submitted |
EID6231CRLF2 overexpression due to P2RY8-CRLF2 fusion or IGH translocation was found in 14% of high risk pediatric B-ALL cases (in the cohort of 209 high-risk patients). 62% of the cases had IGH translocatio… (full text at CIViC) PMID 20139093 · Harvey et al., 2010 · Open in CIViC |
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| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 1 | accepted | EID11622In this 2014 study by Roberts et al., a genomic analysis of 1725 patients with precursor B-cell acute lymphoblastic leukemia (B-ALL) was conducted to define the genetic landscape of the Philadelphia c… (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC | civic |
| 3 |
| submitted |
EID7701This study evaluated the prevalence and outcome of Ph-like ALL subtype in patients wiiht standard-risk (SR) disease. A cohort of 1023 SR cases from the Children's Oncology Group AALL0331 clinical tria… (full text at CIViC) PMID 29997224 · Roberts et al., 2018 · Open in CIViC |
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| 〃 | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 3 | submitted | EID8098In 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 | civic |
| 〃 | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 3 | accepted | EID8105In 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 373 high risk pediatric B… (full text at CIViC) PMID 27176795 · Imamura et al., 2016 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 1 | submitted | EID11623B-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. 1 patient (5.3 years old) with a P… (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC | civic |
| Diagnostic |
| B |
| Supports Positive |
| 3 |
| accepted |
EID7291Integrated genomic analysis was performed for 1,988 childhood and adult B-ALL cases. Forty four cases (2.2%) showed the P80R substitution in the DNA binding domain for the PAX5 transcription factor ge… (full text at CIViC) PMID 30643249 · Gu et al., 2019 · Open in CIViC |
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| (oncogenic) | B Acute Lymphoblastic Leukemia with PAX5 P80R MutationALIAS | Oncogenic | D | Supports Oncogenicity | 4 | submitted | EID11522To examine the effects of PAX5 P80R on B cell maturation, PAX5 WT, P80R, V26G, and P34Q were expressed in Pax5 depleted bone marrow cells. While PAX5 V26G and PAX5 P34Q could rescue B cell differentia… (full text at CIViC) PMID 30643249 · Gu et al., 2019 · Open in CIViC | civic |