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 |
|---|---|---|---|---|---|---|---|---|
| PRPS1 T303S1 | ||||||||
| Asparaginase + Cytarabine + Daunorubicin + MethotrexateSubstitutes | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | D | Does Not Support Resistance | 3 | accepted | EID7929Lentiviral-mediated overexpression of PRPS1 T303S in Reh cells resulted no difference in response to Methotrexate, Cytarabine, Daunorubicin, or L-Asparginase compared to empty vector and wildtype PRPS… (full text at CIViC) PMID 25962120 · Li et al., 2015 · Open in CIViC | civic |
| PRPS1 V53A1 | ||||||||
| Mercaptopurine + ThioguanineSubstitutes | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | D | Does Not Support Resistance | 3 | accepted | EID7918Lentiviral-mediated overexpression of PRPS1 V53A in Reh cells resulted in similar cytotoxic response to controls (empty vector and overexpression of known reduced-function PRPS1 mutants) after exposur… (full text at CIViC) PMID 25962120 · Li et al., 2015 · Open in CIViC | civic |
| PRPS1 Y311C1 | ||||||||
| Mercaptopurine + ThioguanineSubstitutes | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | D | Does Not Support Resistance | 3 | submitted | EID7914Lentiviral-mediated overexpression of PRPS1 Y311C in Reh cells resulted in similar cytotoxic response to controls (empty vector and overexpression of known reduced-function PRPS1 mutants) after exposu… (full text at CIViC) PMID 25962120 · Li et al., 2015 · Open in CIViC | civic |
| PTEN Mutation1 | ||||||||
| (oncogenic) | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | civic | |
| ABL1 Fusion3 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 2 | accepted | EID9076This study included 1389 cases of high-risk pediatric B-ALL, of which 284 were identified by TaqMan Low Density Array to have a Ph-like gene expression signature. RT-PCR or RNAseq performed on Ph-like… (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 | 2 | submitted | EID11617B-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 2.7 and 12.… (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC | civic |
| Dasatinib | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Predictive | C | Supports | ||||
| 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 |
| ABL1 Fusion15 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Diagnostic | C | Supports Positive | 3 | accepted | EID9167Authors studied five patients with B-ALL and potential RCSD1-ABL1 fusion. Patients’ age ranged from 11 to 40 years. Patient 1 was previously reported in PMID 17541395. Sequencing showed that the first… (full text at CIViC) PMID 23168614 · De Braekeleer et al., 2013 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 2 | accepted | EID9075This study included 1389 cases of high-risk pediatric B-ALL, of which 284 were identified by TaqMan Low Density Array to have a Ph-like gene expression signature. RT-PCR or RNAseq performed on Ph-like… (full text at CIViC) PMID 28408464 · Reshmi et al., 2017 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | ||||||
| ABL2 Fusion7 | ||||||||
| (oncogenic) | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Oncogenic | C | N/A N/A | 3 | rejected | civic | |
| 〃 | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 3 | submitted | EID9768In a cohort Dutch/German patients (age <15 years) with B cell precursor acute lymphoblastic leukemia, 14 tyrosine kinase fusions were identified among 77 BCR-ABL1-like cases, and zero were identified … (full text at CIViC) PMID 27894077 · Boer et al., 2017 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Oncogenic | C | |||||
| 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 |
| JAK2 Fusion1 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 3 | accepted | EID7707This study included 1389 cases of high-risk pediatric B-ALL, out of which 284 were identified by TaqMan Low Density Array to have a Ph-like gene expression signature. RT-PCR or RNAseq performed on the… (full text at CIViC) PMID 28408464 · Reshmi et al., 2017 · 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 |
| SF3B1 Mutation4 | ||||||||
| (prognostic) | Chronic Lymphocytic Leukemia | Prognostic | A | Supports Poor Outcome | 5 | accepted | EID1540In a study of 406 previously untreated CLL cases, a multivariate analysis indicated SF3B1 mutations (N=51) were significantly associated with reduced time to first treatment (HR: 1.73; 95%CI: 1.05-2.8… (full text at CIViC) PMID 26837699 · Nadeu et al., 2016 · Open in CIViC | civic |
| 〃 | Chronic Lymphocytic Leukemia | Prognostic | B | Supports Poor Outcome | 5 | accepted | EID1487In a multivariate analysis of 774 CLL patients, SF3B1 mutations were significantly correlated with shorter time to first treatment (HR=1.644; 95% CI=1.134-2.383). This finding was independent of IGHV … (full text at CIViC) PMID 24943832 · Baliakas et al., 2015 · Open in CIViC | civic |
| 〃 | Chronic Lymphocytic Leukemia | Prognostic | B | Supports Poor Outcome | ||||
| 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 |
| JAK2 Fusion1 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 3 | accepted | EID7996In 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. The SMU1-JAK2 fusion is rare; in this study invol… (full text at CIViC) PMID 27870571 · Roberts et al., 2017 · Open in CIViC | civic |
| JAK2 Fusion1 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 3 | accepted | EID7998In 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. The SNX29-JAK2 fusion is rare; in this study invo… (full text at CIViC) PMID 27428428 · Liu et al., 2016 · Open in CIViC | civic |
| ABL1 Fusion1 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 3 | accepted | EID9177This retrospective study intended to clarify clinical characteristics of patients with B-lymphoblastic leukemia/lymphoma (B-ALL) and kinase fusions that are not well described (excluding ETV6-RUNX1, E… (full text at CIViC) PMID 27176795 · Imamura et al., 2016 · 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.
| 2 |
| accepted |
EID9211This retrospective study reported the outcome of 24 patients with Ph-like acute lymphoblastic leukemia (Ph-like ALL) harboring ABL-class fusions, who were treated with a combination of tyrosine kinase… (full text at CIViC) PMID 31434701 · Tanasi et al., 2019 · Open in CIViC |
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| C |
| Supports Positive |
| 2 |
| accepted |
EID9162The study evaluated 15 B-ALL cases which were previously identified as Ph-like using prediction analysis of microarrays (PAM). Paired-end messenger RNA sequencing (RNA-seq) was performed to identify u… (full text at CIViC) PMID 22897847 · Roberts et al., 2012 · Open in CIViC |
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| 〃 | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Diagnostic | C | Supports Positive | 2 | accepted | EID9163De Braekeleer et al. reported a 11-yr-old boy with pre-B ALL associated with a t(1;9)(q24;q34) translocation. FISH analysis using bacterial artificial chromosome (BAC) clones showed colocalization of … (full text at CIViC) PMID 17541395 · De Braekeleer et al., 2007 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 1 | submitted | EID11618B-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 (6.9 years old) with a… (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC | civic |
| Dasatinib | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID9164Authors reported a 40-yr-old male patient with pre-B ALL and t(1;9)(q24;q34) translocation. Two different RCSD1-ABL1 fusion transcripts, presumably resulting from alternative splicing, were identified… (full text at CIViC) PMID 19794096 · Mustjoki et al., 2009 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | C | Supports Reduced Sensitivity | 3 | accepted | EID9166Author reported a 31-year-old male patient diagnosed with B-ALL. RT-PCR and sequence analyses detected transcription of a single RCSD1-ABL1 fusion gene variant, which had breakpoints in exon 3 of RCSD… (full text at CIViC) PMID 21863287 · Inokuchi et al., 2011 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID9168Authors reported a 61-year old female diagnosed with B-ALL in August 2012. The RCSD1-ABL1 t(1;9)(q22;q34) fusion between exon 3 of RCSD1 and exon 4 of ABL1 was identified by RT-PCR. The patient was en… (full text at CIViC) PMID 28057740 · Frech et al., 2017 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | C | Supports Sensitivity Response | 2 | accepted | EID9165Authors reported a 15-year-old female patient with B-ALL diagnosed in June 2014. Conventional cytogenetics and FISH identified t(1;9)(q23;q34) and RCSD1ABL1 fusion. Microarray identified an approximat… (full text at CIViC) PMID 26600955 · Kamran et al., 2015 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID7249The ABL1-RCSD1 fusion was identified in a 6 yo boy with Ph-like B-ALL and hyperleukocytosis. Following standard induction therapy the patient had an MRD of 16.4% in bone marrow, indicating a poor resp… (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 | EID7248The RCSD1-ABL1 fusion was identified in a 6 yo boy with Ph-like B-ALL (expression signature verified by low density gene expression array) and hyperleukocytosis. Following standard induction therapy t… (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID7783This case report describes a 15 year old patient with relapsed B-ALL positive for the RCSD1-ABL1 fusion, who was successfully treated with chemotherapy with addition of imatinib; the patient remained … (full text at CIViC) PMID 27125982 · Perwein et al., 2016 · Open in CIViC | civic |
| Ponatinib | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID9213Authors reported a 26 year-old female patient with B-ALL and RCSD1-ABL1 fusion identified by FISH and PCR. Sequencing showed that RCSD1 exon 3 was fused to ABL1 exon 4. This patient was treated with c… (full text at CIViC) PMID 25768406 · Collette et al., 2015 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 3 | rejected | EID9214The authors performed an ex vivo functional evaluation of the drug response profiling (DRP) of the leukemic blasts from a B-ALL patient with RCSD1-ABL1 fusion with a specific focus on TKIs. Resistance… (full text at CIViC) PMID 25768406 · Collette et al., 2015 · Open in CIViC | civic |
| Tyrosine Kinase Inhibitor | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Predictive | C | Supports Sensitivity Response | 2 | accepted | EID9169Authors reported a 15-year-old female diagnosed with B-ALL with the t(1;9)(q24;q34.1). RNAseq data were consistent with a fusion between the exon 3 of RCSD1 and exon 4 of ABL1, resulting in the format… (full text at CIViC) PMID 27855558 · Yap et al., 2017 · Open in CIViC | civic |
| Supports Oncogenicity |
| 3 |
| submitted |
EID9769In a study of Transcriptome sequencing to identify fusions and mutations on 560 ALL Patients enrolled on a multi-center Alliance, two patients were identified to carry the RCSD1-ABL2 fusion. One was a… (full text at CIViC) PMID 27824051 · Gu et al., 2016 · Open in CIViC |
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| (diagnostic) | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Diagnostic | C | Supports Positive | 3 | submitted | EID9770A 20-year-old male patient was diagnosed with precursor B-ALL (immunophenotype: CD34+, DR+, TdT+, CD19+, CD20 partial+, CD10+, cyCD79a+, CD24+, surface/cyCD22+, cyIgM+, sIg−, MPO−, CD13+, CD33+). Chro… (full text at CIViC) PMID 25098428 · Raca et al., 2015 · Open in CIViC | civic |
| (oncogenic) | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 2 | submitted | EID9771In a study of 1389 consecutively enrolled, newly diagnosed patients with B-ALL, two male patients with high risk Ph-like disease were identified to carry RCSD1-ABL2 fusion by RT-PCR and are eligible t… (full text at CIViC) PMID 28408464 · Reshmi et al., 2017 · Open in CIViC | civic |
| Dasatinib | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID7251The RCSD1-ABL2 fusion was identified in a 5 yo boy with Ph-like B-ALL and Klinefelter syndrome. Following standard induction therapy the patient had an MRD of 1.2% in bone marrow, and continued to be … (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 | submitted | EID9772A 5 year-old male patient with B-ALL was described with an initial WBC of 57,700 (Supplementary Appendix 2). Chromosome analysis showed 47,XXYc with a confirmed diagnosis of Klinefelter syndrome. FISH… (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC | civic |
| 4 |
| accepted |
EID510In patients with chronic lymphocytic leukemia, those with mutations in SF3B1 had shorter time to treatment, progression-free survival, and overall survival. A majority of the mutations are in the C-te… (full text at CIViC) PMID 23568491 · Wan et al., 2013 · Open in CIViC |
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| 〃 | Chronic Lymphocytic Leukemia | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID1480In the randomized phase 3 UK LRF CCL4 trial comparing first-line treatment with chlorambucil, fludarabine, or fludarabine plus cyclophosphamide, SF3B1 mutations (73/437 patients) were associated with … (full text at CIViC) PMID 23086750 · Oscier et al., 2013 · Open in CIViC | civic |