Hematologic Malignancy
Lymphoid Neoplasm
CI-CAN-00009335Explore in graph →
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Hematologic Malignancy
CI-CAN-00009335Explore in graph →
Variants & evidence
638 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 Fusion1 | ||||||||
| 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 |
| 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 |
| 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 Fusion7 | ||||||||
| (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 |
| 〃 | 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 | |||||
| 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 |
| STAT3 SH2 DOMAIN MUTATION1 | ||||||||
| (diagnostic) | T-Cell Large Granular Lymphocyte Leukemia | Diagnostic | B | Supports Positive | 4 | accepted | EID957Mutations in the Src homology 2 (SH2) domain (exon 21) of STAT3 were found in 31 of 77 patients (40%) with large granular lymphocytic leukemia. Recurrent mutational hot spots included Y640F, D661V, D6… (full text at CIViC) PMID 22591296 · Koskela et al., 2012 · 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 |
Data updated 23 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 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 |
| 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 |
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| 〃 | 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 |
| 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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