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 |
|---|---|---|---|---|---|---|---|---|
| ABL1 Fusion6 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 3 | accepted | EID9178In 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 |
| (prognostic) | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Prognostic | C | Supports Poor Outcome | 1 | accepted | EID7694A 16 yr-old male with precursor B-ALL was found to have the t(5;9)(q23;q34) in his peripheral blasts. Fluorescence in situ hybridization (FISH), RT-PCR, and sequencing of the product confirmed a SNX2-… (full text at CIViC) PMID 28278724 · Mu et al., 2017 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Prognostic | C | Supports Poor Outcome | 1 | accepted | EID7744This case report describes a 7-year old boy with B-ALL who presented with high white blood count (115.4x109 /L). Karyotype analysis showed a t(5;9)(q22;q34), resulting in a SNX2-ABL1 fusion. The patie… (full text at CIViC) PMID 24215620 · Masuzawa et al., 2014 · Open in CIViC | civic |
| Dasatinib | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | C | Supports Resistance | 2 | accepted | EID7241A 7-yr-old boy with B-cell precursor acute lymphoblastic leukemia was found to harbor the SNX2-ABL1 fusion gene. Gene expression analysis showed enrichment for BCR-ABL1+ ALL using GSEA. After first re… (full text at CIViC) PMID 24215620 · Masuzawa et al., 2014 · Open in CIViC | civic |
| Imatinib | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | C | Supports Reduced Sensitivity | 1 | accepted | EID7254In a 29-year-old man with pre B-cell ALL, the t(5;9)(q23;q34) [SNX2-ABL1] was identified. The SNX2-ABL1 fusion, which joins the N-terminal domain of SNX2 without the PX domain to ABL1 exon 4, was dete… (full text at CIViC) PMID 21391972 · Ernst et al., 2011 · Open in CIViC | civic |
| Dasatinib + ImatinibSubstitutes | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | D | Supports Resistance | 3 | accepted | EID7655SNX2-ABL1 protein (SNX2 exon 3 to ABL1 exon 4) was transfected in murine Ba/F3 cells and proliferation rates in the presence of IL-3, and tyrosine kinase inhibitors, imatinib and dasatinib was compare… (full text at CIViC) PMID 24367893 · Tomita et al., 2014 · Open in CIViC | civic |
| SOCS1 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11986The authors found that approximately 25% of diffuse large B-cell lymphoma and follicular lymphomas had SOCS1 mutations and they concluded these were likely caused by aberrant somatic hypermutation PMID 19734449 · Mottok et al., 2009 · Open in CIViC | civic |
| SP140 Mutation1 | ||||||||
| (oncogenic) | Mantle Cell Lymphoma | 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 |
| SPEN Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11987This 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 |
| CSF1R Fusion2 | ||||||||
| (prognostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Prognostic | B | Supports Better Outcome | 3 | submitted | EID9767Patients originated from 4 international (UK, Netherlands, Germany, and US) studies, and included 16 B-cell precursor ALL (B-ALL) patients (aged 2-29 years) with SSBP2-CSF1R fusions arising from diffe… (full text at CIViC) PMID 33197935 · Schwab et al., 2021 · Open in CIViC | civic |
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | B | Supports Positive | 2 | submitted | EID9803A multicenter, retrospective study that included 1389 consecutively enrolled, newly diagnosed patients with B-lineage acute lymphoblastic leukemia (B-ALL). There were 3 patients that harbored SSPB2-CS… (full text at CIViC) PMID 28408464 · Reshmi et al., 2017 · Open in CIViC | civic |
| JAK2 Fusion5 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 4 | accepted | EID8103In 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 | EID8100In 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 SSBP2-JAK2 fusion is rare; In this study invol… (full text at CIViC) PMID 27870571 · Roberts et al., 2017 · Open in CIViC | civic |
| (prognostic) | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Prognostic | C | |||||
| STAT3 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11988The authors sequenced exons 19–24 of STAT3 (the region where the hot spot has been reported in other malignancies) in 48 diffuse large B-cell lymphoma samples. PMID 24837465 · Ohgami et al., 2014 · Open in CIViC | civic |
| STAT6 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11989The authors analyzed exome data from 38 relapsed DLBCLs and 138 diagnostic DLBCLs and identified genes enriched for mutations in the former relative to the latter. PMID 26647218 · Morin et al., 2016 · Open in CIViC | civic |
| JAK2 Fusion1 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 3 | accepted | EID7674In 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 |
| CSF1R Fusion1 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 3 | accepted | EID9361This 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 |
| TBL1XR1 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11990The authors applied exome sequencing to14 relapsed/refractory (R/R) DLBCL patients and implicated these genes PMID 26608593 · Mareschal et al., 2016 · Open in CIViC | civic |
| HLF Fusion3 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma with TCF3-HLF RearrangementALIAS | Diagnostic | B | Supports Positive | 3 | accepted | EID12169In this 2018 study the authors investigated B cell precursor acute lymphoblastic leukemia (BCP ALL) RNA-seq data from 1,223 cases enrolled in various clinical trials across multiple centers. The patie… (full text at CIViC) PMID 30487223 · Li et al., 2018 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/Lymphoma with TCF3-HLF RearrangementALIAS | Diagnostic | B | Supports Positive | 3 | accepted | EID12170In this 2023 study the authors investigated the occurrence and spectrum of TCF3 gene rearrangements in 203 patients with B-cell precursor acute lymphoblastic leukemia (BCP-ALL), aged 0-18. The study u… (full text at CIViC) PMID 37058324 · Zerkalenkova et al., 2023 · Open in CIViC | civic |
| 〃 | ||||||||
| TCF3 mutation1 | ||||||||
| (oncogenic) | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11827First described in Schmitz but has been observed in multiple other BL studies PMID 22885699 · Schmitz et al., 2012 · Open in CIViC | civic |
| PBX1 Fusion7 | ||||||||
| (diagnostic) | B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); TCF3-PBX1ALIAS | Diagnostic | A | Supports Positive | 5 | accepted | EID11771The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours listed TCF3::PBX1 rearrangement in the essential diagnostic criteria for “B-lymphoblastic leukaemia/lymphoma … (full text at CIViC) PMID 35732829 · Alaggio et al., 2022 · Open in CIViC | civic |
| 〃 | B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); TCF3-PBX1ALIAS | Diagnostic | B | Supports Positive | 4 | rejected | EID11715This is a large cohort study led by St Jude Children's Research Hospital with extensive genome-wide molecular profiles of 2754 children with acute lymphoblastic leukemia(ALL). Consistent with the prof… (full text at CIViC) PMID 36050548 · Brady et al., 2022 · Open in CIViC | civic |
| 〃 | ||||||||
| JAK2 Fusion2 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 4 | submitted | EID7703In 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 TERF2-JAK2 fusionis rare. This study was cond… (full text at CIViC) PMID 27894077 · Boer et al., 2017 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 3 | accepted | EID7702In 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 |
| TET2 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11992This 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 |
| TFAP4 mutation1 | ||||||||
| (oncogenic) | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11826Mutations in this gene have been described in several genome-wide studies PMID 30617194 · Grande et al., 2019 · Open in CIViC | civic |
| TMSB4X Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11998The authors analyzed 96 diffuse large B-cell lymphomas and identified several recurrently mutated genes PMID 28327945 · Albuquerque et al., 2017 · Open in CIViC | civic |
| TNFAIP3 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11991Focusing on ABC DLBCL, the authors showed that >50% of cases have somatic mutations in regulators of NF-KB with TNFAIP3 among the most common. PMID 19412164 · Compagno et al., 2009 · Open in CIViC | civic |
| TNFRSF14 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11909This 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 |
| TNFRSF17 Gain1 | ||||||||
| (oncogenic) | Multiple Myeloma | Oncogenic | B | Supports Oncogenicity | 1 | submitted | EID9226Low coverage WGS and WES was performed on 752 multiple myleoma patients. Structural variants (copy number gains, templated insertions, and or translocations) of TNFRS17 were found in 19 (2.5%) patient… (full text at CIViC) PMID 33392515 · Rustad et al., 2020 · Open in CIViC | civic |
| PDGFRB Fusion1 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Does Not Support Positive | 1 | submitted | EID11626B-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 years old) with a TN… (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC | civic |
| TOX Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11993This 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 |
| TP53 Mutation8 | ||||||||
| (prognostic) | Chronic Lymphocytic Leukemia | Prognostic | A | Supports Poor Outcome | 5 | accepted | EID1507In a cohort of 406 patients with CLL, those patients with clonal or sub-clonal mutations in TP53 had significantly shorter overall survival (HR: 1.71; 95% CI: 1.28-2.26; P = .0001). PMID 26837699 · Nadeu et al., 2016 · Open in CIViC | civic |
| 〃 | Chronic Lymphocytic Leukemia | Prognostic | B | Supports Poor Outcome | 5 | accepted | EID1452The authors analyzed 328 patients with CLL, of which 28 were identified to have TP53 mutations. Patients with TP53 mutations were found to have significantly shorter progression-free (HR = 3.8; P < 0.… (full text at CIViC) PMID 20697090 · Zenz et al., 2010 · Open in CIViC | civic |
| 〃 | Chronic Lymphocytic Leukemia | Prognostic | B | Supports Poor Outcome | 5 | accepted | ||
Data updated 2 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 Poor Outcome |
| 1 |
| submitted |
EID7209Case report of a 39 yo male with pre-B ALL and a single translocation t(5;9), which created an SSBP2-JAK2 fusion. The patient entered remission after standard induction therapy, but suffered rapid sys… (full text at CIViC) PMID 18618714 · Poitras et al., 2008 · Open in CIViC |
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| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 1 | submitted | EID11624B-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 (14 years old) with an … (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC | civic |
| Ruxolitinib | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID7257The SSBP2-JAK2 fusion was identified in a 14 yo male with Ph-like B-ALL, a t(5;9)(q12;p1?3), and a WBC of 160,000. Following 4-drug induction therapy the patient had an MRD of 5.5%, indicating a poor … (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC | civic |
| Diagnostic |
| C |
| Supports Positive |
| 4 |
| accepted |
EID12171In this 2015 study the authors applied genome and RNA sequencing to analyze a cohort of five diagnostic pre-treatment samples from patients aged between 7 and 17 years, all diagnosed with TCF3::HLF po… (full text at CIViC) PMID 26214592 · Fischer et al., 2015 · Open in CIViC |
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| B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); TCF3-PBX1ALIAS |
| Diagnostic |
| B |
| Supports Positive |
| 4 |
| accepted |
EID11717This study from 1991 (before the advent of next-generation sequencing) aimed to decipher molecular basis and oncogenic mechanisms of the t(1;19)(q23;p13), which was already known at the time as a rec… (full text at CIViC) PMID 1671560 · Hunger et al., 1991 · Open in CIViC |
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| 〃 | B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); TCF3-PBX1ALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID11772From 1101 patients enrolled in 4 consecutive acute lymphoblastic leukemia clinical trials at St Jude Children's Research Hospital (1979-1994), 45 of them were identified to bear t(1;19)(q23;p13) or d… (full text at CIViC) PMID 7989935 · Pui et al., 1994 · Open in CIViC | civic |
| (oncogenic) | B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); TCF3-PBX1ALIAS | Oncogenic | E | Supports Oncogenicity | 3 | accepted | EID11719In an earlier study of 15 patients with TCF3::PBX1 B-ALL, 2 of the 15 had neonatal blood spots found to be positive for the TCF3::PBX1 fusion breakpoint using polymerase chain reaction (PCR). In this … (full text at CIViC) PMID 31434706 · Hein et al., 2019 · Open in CIViC | civic |
| HyperCVAD Regimen | B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); TCF3-PBX1ALIAS | Predictive | B | Supports Sensitivity Response | 4 | submitted | EID11720While it is not common in adult acute lymphoblastic leukemia (ALL), the t(1;19)(q23;p13) rearrangement is still a hallmark for favorable prognosis in a retrospective cohort study with 427 adult patien… (full text at CIViC) PMID 32955970 · Yilmaz et al., 2021 · Open in CIViC | civic |
| NCT00137111 | B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); TCF3-PBX1ALIAS | Predictive | B | Supports Sensitivity Response | 4 | submitted | EID11718Clinical trials conducted at St Jude Children's Research Hospital revealed that patients with pre-B acute lymphoblastic leukemia who have the TCF3::PBX1 fusion exhibit a favorable overall outcome when… (full text at CIViC) PMID 19282835 · Jeha et al., 2009 · Open in CIViC | civic |
EID1485In a multivariate analysis of 774 CLL patients, TP53 aberrations were significantly correlated with shorter time to first treatment (HR=2.081; 95% CI=1.431-3.021). This finding was independent of IGHV… (full text at CIViC) PMID 24943832 · Baliakas et al., 2015 · Open in CIViC |
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| 〃 | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID520In children with bone marrow relapsed B-cell precursor acute lymphoblastic leukemia, in multivariate analysis those with mutations in TP53 had worse event-free survival than patients without mutations… (full text at CIViC) PMID 22699455 · Krentz et al., 2013 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID640In relapsed B-ALL patients, TP53 mutations were associated with morphologic nonresponse to therapy (>5% blasts in the bone marrow after 9 weeks of treatment) as well as reduced event free and overall … (full text at CIViC) PMID 21747090 · Hof et al., 2011 · Open in CIViC | civic |
| 〃 | Chronic Lymphocytic Leukemia | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID1451In a study of 126 patients with long-term follow-up, TP53 mutations were significantly associated with shorter median survival in patients (P = 0.002) from time of diagnosis. The median survival from … (full text at CIViC) PMID 18689542 · Zenz et al., 2008 · Open in CIViC | civic |
| 〃 | Chronic Lymphocytic Leukemia | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID1450A study of 53 patients with B-CLL found a significant resistance to chemotherapy and corresponding poor clinical outcomes among the 7 treated patients with p53 mutations compared to the 29 treated pat… (full text at CIViC) PMID 8241511 · el Rouby et al., 1993 · Open in CIViC | civic |
| 〃 | Chronic Lymphocytic Leukemia | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID1478In the CLL4 trial assessing first line treatment with chlorambucil or fludarabine with or without cyclophosphamide, patients with TP53 mutations experienced poorer overall response rates (27% vs 83%),… (full text at CIViC) PMID 21483000 · Gonzalez et al., 2011 · Open in CIViC | civic |