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 |
|---|---|---|---|---|---|---|---|---|
| FOXO1 mutation1 | ||||||||
| (oncogenic) | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11819FOXO1 mutations are associated with multiple B-cell lymphomas including BL as described in the referenced study PMID 30617194 · Grande et al., 2019 · Open in CIViC | civic |
| ABL1 Fusion5 | ||||||||
| (oncogenic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Oncogenic | C | Supports Oncogenicity | 2 | accepted | EID7253In a 16-year old Caucasian female with B-lymphoblastic leukemia (B-ALL), the t(3;9)(p12;q34) was identified by cytogenetic studies. 5'RACE PCR detected the in-frame FOXP1::ABL1 (exon 19::exon 4) fusio… (full text at CIViC) PMID 21391972 · Ernst et al., 2011 · Open in CIViC | civic |
| (prognostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Prognostic | C | Supports Poor Outcome | 1 | accepted | EID7651The FOXP1::ABL1 fusion was identified in a male patient in a Dutch/German cohort of 77 BCR::ABL1-like cases. The FOXP1::ABL1 fusion was confirmed by PCR and targeted ligation amplification, and was fo… (full text at CIViC) PMID 27894077 · Boer et al., 2017 · Open in CIViC | civic |
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | ||||
| FOXP1 AMPLIFICATION1 | ||||||||
| (diagnostic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Diagnostic | B | Supports Positive | 3 | accepted | EID408Amplification of FOXP1 is shown to be associated with ABC DLBCL. PMID 18765795 · Lenz et al., 2008 · Open in CIViC | civic |
| KIT Fusion1 | ||||||||
| (oncogenic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Oncogenic | D | Supports Oncogenicity | 4 | submitted | EID10172A 52-year-old Caucasian male with second relapsed B-ALL following chemotherapy and blinatumomab (NCT02013167). BMA obtained at study entry on the INOVATE trial (NCT01564784) was analyzed by RNA-seq an… (full text at CIViC) PMID 34991158 · Iacobucci et al., 2022 · Open in CIViC | civic |
| GNA13 mutation3 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11912This 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 |
| 〃 | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11820Somatic mutations in this gene have been reported in several genome-wide studies of B-cell lymphomas PMID 30275490 · Arthur et al., 2018 · Open in CIViC | civic |
| 〃 | Burkitt Lymphoma | Oncogenic | E | Supports | ||||
| GNAI2 mutation2 | ||||||||
| (oncogenic) | EZB Diffuse Large B-Cell Lymphoma | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11943The study identified recurrently mutated genes in DLBCL using whole genome sequencing. PMID 23699601 · Morin et al., 2013 · Open in CIViC | civic |
| 〃 | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11839Mutated at high frequency in both DLBCL and BL PMID 30617194 · Grande et al., 2019 · Open in CIViC | civic |
| GNAS c.393T>C1 | ||||||||
| (prognostic) | Chronic Lymphocytic Leukemia | Prognostic | B | Supports Better Outcome | 4 | accepted | EID2897In a retrospective study of 144 patients with B-cell chronic lymphocytic leukemia, the median progression-free survival was significantly different between GNAS T393C genotypes (TT 130 months; TC 100 … (full text at CIViC) PMID 17020971 · Frey et al., 2006 · Open in CIViC | civic |
| JAK2 Fusion1 | ||||||||
| Ruxolitinib | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID7007A 10-year-old Caucasian boy with high risk B-cell acute lymphoblastic leukemia failed induction therapy. The patient had a complex karyotype and microarray revealed a 9p duplication involving JAK2 and… (full text at CIViC) PMID 29773603 · Ding et al., 2018 · Open in CIViC | civic |
| GRHPR Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11944This gene was identified as recurrently mutated in an analysis of 574 DLBCL exomes PMID 29641966 · Schmitz et al., 2018 · Open in CIViC | civic |
| H1-2 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11929This 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 |
| H1-3 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11946The 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 |
| H1-5 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11945The 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 |
| H2AC17 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11948The 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 |
| H2AC6 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11947The 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 |
| H2BC12 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11950The 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 |
| H2BC5 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 2 | submitted | EID11949This 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 |
| HLA-A Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11951The 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 |
| HLA-B Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11952The 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 |
| HLA-C Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11953The 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 |
| HNRNPH1 non-coding mutations2 | ||||||||
| (prognostic) | Mantle Cell Lymphoma | Prognostic | E | Supports Poor Outcome | 4 | submitted | EID11905This study functionally characterized the role of recurrent non-coding mutations affecting exon 4 of the gene HNRNPH1. These mutations were significantly associated with shorter progression-free survi… (full text at CIViC) PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC | civic |
| (oncogenic) | Mantle Cell Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11847non-coding mutations have been functionally shown to influence HNRNPH1 expression PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC | civic |
| HNRNPU mutation1 | ||||||||
| (oncogenic) | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11840Recurrence of mutations now confirmed by multiple studies PMID 31558468 · Panea et al., 2019 · Open in CIViC | civic |
| HVCN1 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11954The 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 |
| ID3 mutation1 | ||||||||
| (oncogenic) | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11841ID3 mutations have been firmly established as a distinguishing genetic feature of BL and are one of the defining mutations in the new BL genetic subgrouping system proposed by Thomas et al PMID 23143595 · Richter et al., 2012 · Open in CIViC | civic |
| CRLF2 Fusion4 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | B | Supports Positive | 5 | accepted | EID11613The authors performed genomic profiling of 1725 cases of B-lymphoblastic leukemia/lymphoma (B-ALL). Overall, 264 of 1725 B-ALL cases (15.3%) were identified as BCR::ABL1 (Ph)-like based on their expr… (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC | civic |
| (prognostic) | Adult B Acute Lymphoblastic LeukemiaALIAS | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID7212CRLF2 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) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | |||||
| CRLF2 Fusion + JAK2 R683GCRLF2JAK21 | ||||||||
| Sirolimus | B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1ALIAS | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID7641Xenografts were established from Ph-like ALL patient derived cells harboring CRLF2 rearrangements and JAK2 mutations. A xenograft with a JAK2 R683G mutation and IGH-CRLF2 rearrangement showed signific… (full text at CIViC) PMID 22955920 · Maude et al., 2012 · Open in CIViC | civic |
| DUX4 Fusion5 | ||||||||
| (diagnostic) | B Acute Lymphoblastic Leukemia with DUX4 RearrangementALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID12248This study identifies DUX4 rearrangements, specifically IGH::DUX4 fusions, as diagnostic markers for a distinct molecular subtype of Philadelphia chromosome-negative (Ph−) B-lymphoblastic leukemia/lym… (full text at CIViC) PMID 27019113 · Yasuda et al., 2016 · Open in CIViC | civic |
| 〃 | B Acute Lymphoblastic Leukemia with DUX4 RearrangementALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID12249This study highlights the diagnostic significance of DUX4 gene rearrangements in a distinct molecular subtype of B-lymphoblastic leukemia/lymphoma (B-ALL). Among 1,913 B-ALL cases, including 1,347 chi… (full text at CIViC) PMID 27776115 · Zhang et al., 2016 · Open in CIViC | civic |
| 〃 | B Acute Lymphoblastic Leukemia with DUX4 Rearrangement | |||||||
| EPOR Fusion4 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | B | Supports Positive | 4 | accepted | EID12395This MD Anderson Cancer Center study describes six adult patients (3 males and 3 females, median age 39 yo) with t(14;19)(q32;p13) resulting in IGH::EPOR. 3 patients did not receive any prior chemothe… (full text at CIViC) PMID 24030742 · Jaso et al., 2014 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 4 | accepted | EID12393In this 2024 case report the authors describe a case of BCR::ABL1-like B-ALL with unusual granular morphology in a female patient, 12 year old, with the following symptoms: paroxysmal headache, vomiti… (full text at CIViC) PMID 38302862 · Long et al., 2024 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports | ||||
| IL3 Fusion3 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma with t(5;14)(q31.1;q32.3); IL3-IGHALIAS | Diagnostic | B | Supports Positive | 3 | accepted | EID12243In this 2019 study, the authors included 8 patients with B-ALL presenting with t(5;14)(q31;q32) and reviewed another 16 patients from the literature. The median age at onset was 14.3 years (range of 4… (full text at CIViC) PMID 31921638 · Fournier et al., 2019 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/Lymphoma with t(5;14)(q31.1;q32.3); IL3-IGHALIAS | Diagnostic | C | Supports Positive | 4 | accepted | EID12244In this 2021 study the authors include four B-ALL cases with an IGH::IL3 gene fusion that initially were unable to be fully characterized by conventional methods. Patients' ages ranged from 6 to 19 ye… (full text at CIViC) PMID 33991782 · Guenzel et al., 2021 · Open in CIViC | civic |
| 〃 | ||||||||
| IKZF1 Deletion2 | ||||||||
| (prognostic) | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Prognostic | A | Supports Poor Outcome | 5 | accepted | EID7365This prospective study reports the prognosis of patients with B-ALL and an IKZF1 deletion and the impact of intensification of treatment in this subgroup. In 50 patients from the MS2003 cohort, the 5-… (full text at CIViC) PMID 30044693 · Yeoh et al., 2018 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Prognostic | A | Supports Poor Outcome | 5 | accepted | EID7404A meta-analysis of 15 published studies including 5021 patients with B-ALL showed that IKZF1 had an unfavorable impact on event-free survival (HR=2.32) and overall survival (HR=2.56). The correlation … (full text at CIViC) PMID 25335741 · Jia et al., 2014 · Open in CIViC | civic |
Data updated 1 hour 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.
| 1 |
| accepted |
EID11615B-lymphoblastic leukemia/lymphoma (B-ALL) cases with high-risk clinical features or suggestion of a kinase rearrangement were subjected to low density gene expression array to determine BCR::ABL1-like… (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC |
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| (prognostic) | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Prognostic | D | Supports Poor Outcome | 4 | rejected | EID9154This study comprised 127 consecutive patients (age ≥16 years) with newly diagnosed BCP-ALL with available molecular data.The non-response rate, defined as the proportion of patients who had not achiev… (full text at CIViC) PMID 25769542 · Boer et al., 2015 · Open in CIViC | civic |
| Dasatinib | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Predictive | C | Supports Sensitivity Response | 1 | accepted | EID7292A 16-year-old Caucasian boy was diagnosed with B-lymphoblastic leukemia (B-ALL). Karyotype showed an abnormal clone characterized by the t(3;9)(p13;q34.1). This translocation has been shown previously… (full text at CIViC) PMID 30938769 · Yenamandra et al., 2019 · Open in CIViC | civic |
| 3 |
| submitted |
EID11821Mutations in this gene have been described in several genome-wide studies of B-cell lymphomas including this one PMID 30617194 · Grande et al., 2019 · Open in CIViC |
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| Supports Positive |
| 4 |
| accepted |
EID8233Among 284 cases with Ph-like expression signature who were identified by testing 1389 high-risk cases of pediatric B-ALL, overexpression and rearrangement of CRLF2 were identified in 124 (43.7%). This… (full text at CIViC) PMID 28408464 · Reshmi et al., 2017 · Open in CIViC |
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| 〃 | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 2 | accepted | EID11621B-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 patients (ages 7.6 and 16.3 yea… (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC | civic |
| Diagnostic |
| B |
| Supports Positive |
| 4 |
| accepted |
EID12250In this study, the authors analyzed the fusion gene landscape in pediatric B-lymphoblastic leukemia (B-ALL) across 195 cases using RNA sequencing. Fusion genes were identified in 127 cases (65%), incl… (full text at CIViC) PMID 27265895 · Lilljebjörn et al., 2016 · Open in CIViC |
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| 〃 | B Acute Lymphoblastic Leukemia with DUX4 RearrangementALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID12251This study highlights the diagnostic significance of DUX4 rearrangements in identifying a distinct molecular subtype of B-lymphoblastic leukemia/lymphoma (B-ALL). Using transcriptome sequencing of 1,9… (full text at CIViC) PMID 30643249 · Gu et al., 2019 · Open in CIViC | civic |
| (oncogenic) | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 3 | submitted | EID7027Insertion of D4Z4 repeats containing the DUX4 gene into the IGH locus was frequently identified in B cell AYA-ALL, leading to a high level of expression of DUX4 protein with an aberrant C terminus. DU… (full text at CIViC) PMID 27019113 · Yasuda et al., 2016 · Open in CIViC | civic |
| 4 |
| accepted |
EID12394This is a case report from MD Anderson Cancer Center. A 40yo Caucasian male patient was diagnosed with B-ALL with IGH::EPOR fusion. The patient received 4 cycles of R-hyper-CVAD and archived CR with M… (full text at CIViC) PMID 32330662 · Liu et al., 2020 · Open in CIViC |
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| 〃 | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 4 | accepted | EID12396This 2021 study reports 3 adolescent/young adult patients with IGH::EPOR-positive B-ALL treated with post-induction chemotherapy combined with JAKi ruxolitinib or TKI ponatinib. Patient 1 was hispanic… (full text at CIViC) PMID 34196168 · Niswander et al., 2021 · Open in CIViC | civic |
| B Lymphoblastic Leukemia/Lymphoma with t(5;14)(q31.1;q32.3); IL3-IGHALIAS |
| Diagnostic |
| C |
| Supports Positive |
| 2 |
| accepted |
EID12245In this 1989 study the authors analyzed the bone marrow aspirate from a B-ALL patient presenting with eosinophilia in the peripheral blood and found to have the t(5;14)(q31;q32) chromosomal translocat… (full text at CIViC) PMID 2499362 · Grimaldi et al., 1989 · Open in CIViC |
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