Cancer Family
Hematopoietic and Lymphatic System Neoplasm
CI-CAN-00000022Explore in graph →
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- C35813
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Cancer Family
CI-CAN-00000022Explore in graph →
Variants & evidence
2,012 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 V379I + ABL1 Fusion1 | ||||||||
| Imatinib Mesylate | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Supports Resistance | 2 | accepted | EID6257In an in vitro study, stochastic mutations were introduced into the ABL1 region of a stably expressed p210 BCR-ABL fusion in Ba/F3 cells using N-ethyl-N-nitrosourea mutagenesis. Resulting clones were … (full text at CIViC) PMID 16772610 · Bradeen et al., 2006 · Open in CIViC | civic |
| ABL1 Y253F + ABL1 Fusion12 | ||||||||
| Axitinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Supports Resistance | 2 | accepted | EID4345In a proliferation assay measuring tritiated thymidine incorporation in the presence of axitinib, Ba/F3 cells carrying the BCR-ABL1 variant showed increased incorporation when harboring fusions with t… (full text at CIViC) PMID 25686603 · Pemovska et al., 2015 · Open in CIViC | civic |
| Bosutinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | C | Does Not Support Resistance | 1 | accepted | EID4340In this retrospective study, imatinib-resistant or -intolerant patients, with chronic phase CML and BCR-ABL fusions, were treated with bosutanib monotherapy. Complete hematologic response (CHR) and ma… (full text at CIViC) PMID 21865346 · Cortes et al., 2011 · Open in CIViC | civic |
| 〃 | Chronic Myeloid Leukemia, BCR-ABL1 Positive | |||||||
| ABL1 Y253H + ABL1 Fusion17 | ||||||||
| Axitinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Does Not Support Resistance | 2 | accepted | EID4329In a proliferation assay measuring tritiated thymidine incorporation in the presence of axitinib, Ba/F3 cells carrying the BCR-ABL1 variant showed similar incorporation when harboring fusions with the… (full text at CIViC) PMID 25686603 · Pemovska et al., 2015 · Open in CIViC | civic |
| 〃 | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Supports Resistance | 2 | accepted | EID4330In an in vitro study, pro-B Ba/F3 cell line expressing Y253H mutation in the ABL1 portion of the BCR-ABL1 fusion protein (overexpression) demonstrated resistance to axitinib treatment (IC50: 1069.7nM)… (full text at CIViC) PMID 26582647 · Zabriskie et al., 2016 · Open in CIViC | civic |
| Bosutinib | Chronic Myeloid Leukemia, BCR-ABL1 Positive | |||||||
| ABL1 E255V + ABL1 Y253H + ABL1 Fusion1 | ||||||||
| Axitinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Supports Resistance | 2 | submitted | EID12313In an in vitro study, pro-B Ba/F3 cell line expressing a compound mutant of both E255V and Y253H mutations in the ABL1 portion of the BCR-ABL1 fusion protein demonstrated resistance to axitinib treatm… (full text at CIViC) PMID 26582647 · Zabriskie et al., 2016 · Open in CIViC | civic |
| FGFR1 Fusion1 | ||||||||
| (oncogenic) | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 2 | submitted | EID1172670 yo with t(8;22)(p11;q11) and BCR::FGFR1 rearrangement presenting as pre-B ALL with complex cytogenetic abnormalities. Flow cytometric analysis at diagnosis showed B cell immunophenotype. BCR-FGFR1 … (full text at CIViC) PMID 20594995 · Baldazzi et al., 2010 · Open in CIViC | civic |
| JAK2 Fusion4 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 4 | accepted | EID7698In 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 the 129… (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 | 4 | accepted | EID8101In this study involving 574 pediatric B-ALL patients (from a Dutch/German cohort), 77 were shown to be Ph-like cases identified by hierarchical clustering of gene expression data. In one male patient … (full text at CIViC) PMID 27894077 · Boer et al., 2017 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports | ||||
| PDGFRA Fusion2 | ||||||||
| Imatinib | B Acute Lymphoblastic LeukemiaALIAS | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID7990A 47-year-old man was diagnosed with pre-B-cell acute lymphoblastic leukemia. FISH and nested PCR revealed the patient had a t(4;22)(q12;11) translocation that created an in-frame BCR-PDGFRA fusion. T… (full text at CIViC) PMID 12944919 · Trempat et al., 2003 · Open in CIViC | civic |
| Chemotherapy + ImatinibCombination | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Predictive | C | Supports Sensitivity Response | 2 | submitted | EID12582A 39-year-old Chinese man was hospitalized in May 2021 with concerns of thirst and weight loss. Immature B lymphocytes were detected in blood (83.8%) and bone marrow (87%) and FISH showed the absence … (full text at CIViC) PMID 41143846 · Hua et al., 2024 · Open in CIViC | civic |
| BIRC3 mutation1 | ||||||||
| (oncogenic) | Mantle Cell Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11843BIRC3 mutations have been described in MCL in multiple studies PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC | civic |
| BIRC3 TRUNCATING MUTATION1 | ||||||||
| (prognostic) | Chronic Lymphocytic Leukemia | Prognostic | B | Supports Poor Outcome | 2 | accepted | EID1488BIRC3 mutations were identified in 23 of 919 screened CLLs. They are strongly linked to non-mutated IGHV genes (18/23, P = 0.0001), a widely recognized prognostic signature for poor outcome. PMID 24943832 · Baliakas et al., 2015 · Open in CIViC | civic |
| BIRC6 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID12000This 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 |
| BLK Expression1 | ||||||||
| Ibrutinib | B Acute Lymphoblastic LeukemiaALIAS | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID9288A preclinical study investigated BTK inhibitor ibrutinib as a potential inhibitor for patients with pre-BCR + B cell acute lymphoblastic leukemia (B-ALL). In validating the significance of BTK and BLK… (full text at CIViC) PMID 28031181 · Kim et al., 2017 · Open in CIViC | civic |
| BMP7 mutation1 | ||||||||
| (oncogenic) | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 2 | submitted | EID11837Observed mutated in BL in more than one genomic data set PMID 31558468 · Panea et al., 2019 · Open in CIViC | civic |
| BRAF Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11937This study performed exome sequencing on 55 DLBCL tumor samples and identified several significantly mutated genes including BRAF. PMID 22343534 · Lohr et al., 2012 · Open in CIViC | civic |
| BRAF N486_P4901 | ||||||||
| Trametinib | Langerhans Cell Histiocytosis | Predictive | C | Supports Sensitivity Response | 4 | submitted | EID11300In this case series, 3 patients with Langerhans cell histiocytosis (LCH) were studied. Patient #1 was a 15-year-old male who has experienced five reactivations of LCH. He presented with left mastoid L… (full text at CIViC) PMID 32991018 · Messinger et al., 2020 · Open in CIViC | civic |
| BRAF Non-V6002 | ||||||||
| Cobimetinib | Erdheim-Chester Disease | Predictive | B | Supports Sensitivity Response | 4 | submitted | EID11298In an open-label, phase II trial, 18 patients with histiocytosis, including 12 patients with Erdheim-Chester disease with one patient having a non-V600 BRAF mutation, of any mutational status were enr… (full text at CIViC) PMID 30867592 · Diamond et al., 2019 · Open in CIViC | civic |
| 〃 | Langerhans Cell Histiocytosis | Predictive | B | Supports Sensitivity Response | 4 | submitted | EID11299In an open-label, phase II trial, 18 patients with histiocytosis, including two patients with Langerhans cell histiocytosis, with one patient having a non-V600 BRAF mutation, of any mutational status … (full text at CIViC) PMID 30867592 · Diamond et al., 2019 · Open in CIViC | civic |
| BRAF V6003 | ||||||||
| Dabrafenib/Trametinib Regimen | Histiocytic Sarcoma | Predictive | C | Supports Sensitivity Response | 2 | accepted | EID12769An 8-year-old girl presented with secondary BRAF V600-mutant histiocytic sarcoma following T-cell acute lymphoblastic leukemia. After the poor response to initial salvage chemotherapy, the patient res… (full text at CIViC) PMID 40057687 · Tan et al., 2025 · Open in CIViC | civic |
| Vemurafenib | Erdheim-Chester Disease | Predictive | A | Supports Sensitivity Response | 5 | submitted | EID11237In this histology-independent, phase 2, open-label study, 26 patients (22 with Erdheim-Chester disease (ECD) and 4 Langerhans cell histiocytosis (LCH)) were administered 960 mg, twice daily doses of v… (full text at CIViC) PMID 29188284 · Diamond et al., 2018 · Open in CIViC | civic |
| 〃 | Langerhans Cell Histiocytosis | Predictive | B | Supports Sensitivity Response | ||||
Data updated 3 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.
| Predictive |
| D |
| Supports Sensitivity Response |
| 3 |
| submitted |
EID4339In an in vitro study, a Ba/F3 murine cell line stably expressing the Y253F mutation in the ABL1 portion of the BCR-ABL1 fusion protein was associated with sensitivity to bosutinib treatment (IC50: 40n… (full text at CIViC) PMID 19075254 · Redaelli et al., 2009 · Open in CIViC |
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| 〃 | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Does Not Support Resistance | 2 | submitted | EID7508In an in vitro kinase study, the recombinant ABL1 Y253F mutant kinase did not demonstrate resistance to bosutinib treatment at concentrations of 1μM and 10μM (activity %: 1 and 0) when compared to wil… (full text at CIViC) PMID 19039322 · Remsing Rix et al., 2009 · Open in CIViC | civic |
| Dasatinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | C | Supports Sensitivity Response | 3 | submitted | EID4343In a retrospective study of 1084 imatinib-resistant or -intolerant, chronic myeloid leukemia (chronic-phase) patients, patients with a mutation in the ABL1 portion of the BCR-ABL gene fusion were asso… (full text at CIViC) PMID 19779040 · Müller et al., 2009 · Open in CIViC | civic |
| 〃 | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID4341In an in vitro study, a Ba/F3 cell line stably expressing the Y253F mutation in the ABL1 portion of the BCR-ABL1 fusion protein was associated with sensitivity to dasatinib treatment (IC50: 2.89nM vs… (full text at CIViC) PMID 19075254 · Redaelli et al., 2009 · Open in CIViC | civic |
| 〃 | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID4342In an in vitro study, a Ba/F3 cell line expressing a Y253F mutation in the ABL1 portion of the BCR-ABL1 fusion protein was associated with sensitivity to dasatinib treatment (1.4 nmol/L vs. 0.8 nmol/L… (full text at CIViC) PMID 15930265 · O'Hare et al., 2005 · Open in CIViC | civic |
| 〃 | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID4344In an in vitro study, a Ba/F3 cell line stably expressing the Y253F mutation in the ABL1 portion of the BCR-ABL1 fusion protein was found to have increased sensitivity to dasatinib treatment, as comp… (full text at CIViC) PMID 15256671 · Shah et al., 2004 · Open in CIViC | civic |
| 〃 | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Does Not Support Resistance | 2 | submitted | EID7509In an in vitro kinase study, the recombinant ABL1 Y253F mutant kinase did not demonstrate resistance to dasatinib treatment at concentrations of 1μM and 10μM (activity %: -1 and 1) when compared to wi… (full text at CIViC) PMID 19039322 · Remsing Rix et al., 2009 · Open in CIViC | civic |
| Imatinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | C | Supports Resistance | 3 | accepted | EID8508In this study, patients on imatinib monotherapy were monitored for ABL1 kinase domain variants in BCR-ABL1 fusions amplified from peripheral blood RNA. An AP patient had a complete hematologic respons… (full text at CIViC) PMID 12623848 · Branford et al., 2003 · Open in CIViC | civic |
| 〃 | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Supports Resistance | 3 | accepted | EID2657In two cell-based studies, a panel of either 18 or 16 mutations representing 85% of known mutations seen in imatinib CML patents were used to evaluate the effectiveness of drug binding. All mutations … (full text at CIViC) PMID 15930265 · O'Hare et al., 2005 · Open in CIViC | civic |
| 〃 | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Supports Resistance | 2 | accepted | EID2655A panel of 18 mutations representing 85% of known mutations seen in imatinib CML patents were used to evaluate the effectiveness of drug binding. All mutations were compared with non-mutated BCR-ABL p… (full text at CIViC) PMID 19075254 · Redaelli et al., 2009 · Open in CIViC | civic |
| Predictive |
| C |
| Does Not Support Resistance |
| 3 |
| accepted |
EID4332This was a retrospective study of dasatinib and/or nilotinib-resistant or -intolerant patients pretreated with imatinib aimed at evaluating the efficacy of bosutanib monotherapy. All patients had chro… (full text at CIViC) PMID 22371878 · Khoury et al., 2012 · Open in CIViC |
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| 〃 | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | C | Does Not Support Resistance | 2 | accepted | EID4331In this retrospective study, imatinib-resistant or -intolerant patients, with chronic phase CML and BCR-ABL fusions, were treated with bosutanib monotherapy. Complete hematologic response (CHR) and ma… (full text at CIViC) PMID 21865346 · Cortes et al., 2011 · Open in CIViC | civic |
| Dasatinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | B | Does Not Support Resistance | 3 | accepted | EID4335This is a retrospective study of imatinib-resistant (n = 805) or -intolerant (n = 238), chronic myeloid leukemia (chronic-phase), patients with mutations in the BCR-ABL gene fusion kinase domain from … (full text at CIViC) PMID 19779040 · Müller et al., 2009 · Open in CIViC | civic |
| 〃 | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | C | Does Not Support Resistance | 4 | accepted | EID4336Prior to dasatinib treatment, one imatinib-resistant patient with chronic myeloid leukemia in chronic phase had the BCR-ABL1 fusion with the Y253H secondary variant in 11/11 bacterial clones generated… (full text at CIViC) PMID 16775234 · Talpaz et al., 2006 · Open in CIViC | civic |
| 〃 | Acute Lymphoblastic Leukemia | Predictive | C | Does Not Support Resistance | 3 | accepted | EID7947Prior to dasatinib treatment, one imatinib-resistant patient with acute lymphoblastic leukemia had the BCR-ABL1 fusion with Y253H and Y253H/Q252R variants in 9/10 and 1/10 clones, respectively. Clones… (full text at CIViC) PMID 16775234 · Talpaz et al., 2006 · Open in CIViC | civic |
| 〃 | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | C | Does Not Support Resistance | 3 | accepted | EID7949Prior to dasatinib treatment, one imatinib-resistant patient with chronic myeloid leukemia in chronic phase had the BCR-ABL1 fusion with Y253H, M388L, and M388L/M244V variants in 4/10, 5/10, and 1/10 … (full text at CIViC) PMID 16775234 · Talpaz et al., 2006 · Open in CIViC | civic |
| 〃 | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | C | Supports Sensitivity Response | 1 | submitted | EID4333In a retrospective study of 174 imatinib-resistant or -intolerant Philadelphia chromosome BCR-ABL1 fusion positive accelerated phase chronic myeloid leukemia patients, patients with mutations in the A… (full text at CIViC) PMID 19487385 · Apperley et al., 2009 · Open in CIViC | civic |
| 〃 | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | C | Does Not Support Resistance | 1 | accepted | EID4334In this phase II multinational study, 60 imatinib-resistant patients with accelerated phase CML and BCR-ABL fusions were treated with dasatinib monotherapy. 44 (73%) of 60 BCR-ABL mutant patients achi… (full text at CIViC) PMID 17264298 · Guilhot et al., 2007 · Open in CIViC | civic |
| 〃 | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Supports Sensitivity Response | 2 | submitted | EID4337In an in vitro study, a Ba/F3 cell line stably expressing the Y253H mutation in the ABL1 portion of the BCR-ABL1 fusion protein was found to have increased sensitivity to dasatinib treatment, as compa… (full text at CIViC) PMID 15256671 · Shah et al., 2004 · Open in CIViC | civic |
| 〃 | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Supports Sensitivity Response | 2 | submitted | EID4338In an in vitro study, a Ba/F3 cell line expressing a Y253H mutation in the ABL1 portion of the BCR-ABL1 fusion protein was associated with sensitivity to dasatinib treatment (1.3 nmol/L vs. 0.8 nmol/L… (full text at CIViC) PMID 15930265 · O'Hare et al., 2005 · Open in CIViC | civic |
| Imatinib Mesylate | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | B | Supports Resistance | 1 | accepted | EID7040In a phase II study of 60 imatinib-resistant patients with BCR-ABL mutations, 6 had Y253H mutations PMID 17264298 · Guilhot et al., 2007 · Open in CIViC | civic |
| 〃 | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | C | Supports Resistance | 3 | accepted | EID6992In a study of 39 chronic phase CML patients with BCR-ABL variants, Y253H was seen in 6 imatinib-resistant patients that were also resistant or intolerant to dasatinib and/or nilotinib treatment. Nine … (full text at CIViC) PMID 22371878 · Khoury et al., 2012 · Open in CIViC | civic |
| Imatinib Mesylate + NilotinibCombination | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Supports Resistance | 2 | accepted | EID6237In an in vitro study, stochastic mutations were introduced into the ABL1 region of a stably expressed p210 BCR-ABL fusion in Ba/F3 cells using N-ethyl-N-nitrosourea mutagenesis. Resulting clones were … (full text at CIViC) PMID 16772610 · Bradeen et al., 2006 · Open in CIViC | civic |
| Imatinib Mesylate + NilotinibSubstitutes | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | C | Supports Resistance | 3 | accepted | EID6200In this open-label, phase II registration trial, patients that were imatinib resistant or intolerant underwent nilotinib monotherapy. Within 12 months of nilotinib therapy, there was no significant di… (full text at CIViC) PMID 19652056 · Hughes et al., 2009 · Open in CIViC | civic |
| 〃 | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Supports Resistance | 3 | accepted | EID2654In an in vitro study, a Ba/F3-p210BCR-ABL1 cell line was ENU-mutated and exposed to graded concentrations of imatinib, nilotinib or dasatinib to identify resistance mutations. The Y253H mutation in th… (full text at CIViC) PMID 16772610 · Bradeen et al., 2006 · Open in CIViC | civic |
| 3 |
| accepted |
EID7697In 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 |
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| 〃 | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 3 | accepted | EID8096In 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 |
| 4 |
| submitted |
EID11302In this open-label, non-randomized trial, 26 patients with BRAF V600–mutant Erdheim-Chester Disease or Langerhans Cell Histiocytosis (22 with Erdheim-Chester Disease, 4 with Langerhans Cell Histiocyto… (full text at CIViC) PMID 29188284 · Diamond et al., 2018 · Open in CIViC |
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