Cancer Family
Hematopoietic and Lymphatic System Neoplasm
CI-CAN-00000022Explore in graph →
- NCIt
- 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 |
|---|---|---|---|---|---|---|---|---|
| BRAF V6001 | ||||||||
| Vemurafenib | Langerhans Cell Histiocytosis | Predictive | B | Supports Sensitivity Response | 3 | accepted | EID1575Patients with BRAF-V600 mutated cancers were identified (n=122) and clinical response to vemurafenib was evaluated. Of the 14 patients with Langerhans’-cell histiocytosis, 43% of patients had a respo… (full text at CIViC) PMID 26287849 · Hyman et al., 2015 · Open in CIViC | civic |
| BRAF V600E14 | ||||||||
| (diagnostic) | Hairy Cell Leukemia | Diagnostic | B | Supports Positive | 4 | accepted | EID1127In 47 patients with Hairy Cell Leukemia, sequencing discovered a V600E mutation in all 47 of the sequenced patients. PMID 21663470 · Tiacci et al., 2011 · Open in CIViC | civic |
| (prognostic) | Multiple Myeloma | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID463In patients with multiple myeloma, those with BRAF V600E had shorter overall survival than wild-type. PMID 23612012 · Andrulis et al., 2013 · Open in CIViC | civic |
| Dabrafenib | Langerhans Cell Histiocytosis | Predictive | B | Supports Sensitivity Response | 4 | submitted | EID11303In this case series, 11 patients with ECD or ECD/LCH (Seven had ECD and four had overlapped ECD/LCH) were treated with single-agent dabrafenib as initial histiocytosis therapy, following the failure o… | |
| BRAF V600K1 | ||||||||
| Dabrafenib/Trametinib Regimen | Histiocytic Sarcoma | Predictive | C | Supports Sensitivity Response | 2 | rejected | EID12770An 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 |
| BRAF V600R1 | ||||||||
| Dabrafenib/Trametinib Regimen | Histiocytic Sarcoma | Predictive | C | Supports Sensitivity Response | 2 | rejected | EID12771An 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 |
| BTG1 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11918This 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 |
| BTG2 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11914This 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 |
| BTK C481R1 | ||||||||
| Venetoclax | Chronic Lymphocytic Leukemia | Predictive | C | Does Not Support Resistance | 2 | submitted | EID10374The effective cohort in this study was 11 CLL patients who were first treated with ibrutinib and then on progression treated with venetoclax until progression. Patient samples were sequenced before an… (full text at CIViC) PMID 32232486 · Lucas et al., 2020 · Open in CIViC | civic |
| BTK C481S2 | ||||||||
| Ibrutinib | Chronic Lymphocytic Leukemia | Predictive | B | Supports Resistance | 4 | accepted | EID436Whole exome sequencing of 6 chronic lymphocytic leukemia patients with acquired resistance to ibrutinib determined 5/6 patients harbored a C481S mutation in BTK. PMID 24869598 · Woyach et al., 2014 · Open in CIViC | civic |
| 〃 | Chronic Lymphocytic Leukemia | Predictive | B | Supports Resistance | 4 | accepted | EID1770In a trial of 308 patients with chronic lymphocytic leukemia treated with ibrutinib, 31 discontinued treatment due to disease progression (13 CLL progression, 18 Richter’s transformation). 11/13 patie… (full text at CIViC) PMID 26182309 · Maddocks et al., 2015 · Open in CIViC | civic |
| BTK C481Y1 | ||||||||
| Venetoclax | Chronic Lymphocytic Leukemia | Predictive | C | Supports Resistance | 2 | submitted | EID10373The effective cohort in this study was 11 CLL patients who were first treated with ibrutinib and then on progression treated with venetoclax until progression. Patient samples were sequenced before an… (full text at CIViC) PMID 32232486 · Lucas et al., 2020 · Open in CIViC | civic |
| BTK Expression1 | ||||||||
| Ibrutinib | B Acute Lymphoblastic LeukemiaALIAS | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID9287A 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 |
| BTK MUTATION2 | ||||||||
| (prognostic) | Chronic Lymphocytic Leukemia | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID5833A patient cohort of 308 individuals was created from trials of Ibrutinib in CLL (see Maddocks 2015, PMID: 26182309). A secondary cohort was created from a prospective collection of 112 patients. 83/… (full text at CIViC) PMID 28418267 · Woyach et al., 2017 · Open in CIViC | civic |
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11938This study reportedly sequenced 1001 DLBCL tumors using whole exome sequencing. They reported 150 recurrently mutated genes. Only genes that have been confirmed by other similar studies were added to … (full text at CIViC) PMID 28985567 · Reddy et al., 2017 · Open in CIViC | civic |
| BTK T316A1 | ||||||||
| Ibrutinib | Chronic Lymphocytic Leukemia | Predictive | C | Supports Resistance | 4 | accepted | EID1985Case report of a patient with CLL and Richter-transformed relapse under ibrutinib (after an initial partial response for 10 months). Sequencing of sequential samples of this patient revealed a novel B… (full text at CIViC) PMID 27626698 · Sharma et al., 2016 · Open in CIViC | civic |
| CALR EXON 9 FRAMESHIFT7 | ||||||||
| (prognostic) | Primary MyelofibrosisALIAS | Prognostic | A | Supports Better Outcome | 4 | accepted | EID1387Study of 428 patients with primary Myelofibrosis found that those patients harboring CALR exon 9 mutations displayed significantly longer survival than those with JAK2 mutations (HR: 2.5, median survi… (full text at CIViC) PMID 25037629 · Tefferi et al., 2014 · Open in CIViC | civic |
| 〃 | Primary MyelofibrosisALIAS | Prognostic | B | Supports Better Outcome | 4 | accepted | EID1649In patients with primary myelofibrosis CALR mutations were associated with improved median survival. For 277 patients, CALR mutated, ASXL1 wildtype patients (median survival, 10.4 years, N=46); CALR w… (full text at CIViC) PMID 24496303 · Tefferi et al., 2014 · Open in CIViC | civic |
| 〃 | Primary MyelofibrosisALIAS | |||||||
| CALR Mutation1 | ||||||||
| (diagnostic) | Essential Thrombocythemia | Diagnostic | A | Supports Positive | 5 | accepted | EID6382Diagnostic criterion for essential thrombocytemia according to the World Health Organization (WHO) classification of tumors of the hematopoietic and lymphoid tissues 2016. PMID 27069254 · Arber et al., 2016 · Open in CIViC | civic |
| CARD11 MUTATION3 | ||||||||
| (prognostic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Prognostic | D | Supports Poor Outcome | 4 | rejected | EID8344The signalling adaptor CARD11 is required for constitutive NF-kappaB pathway activity and survival in ABC DLBCL. Roughly 10% of ABC DLBCLs have mutant CARD11 isoforms that activate NF-kappaB, but the … (full text at CIViC) PMID 20054396 · Davis et al., 2010 · Open in CIViC | civic |
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11932This 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 |
| 〃 | Mantle Cell Lymphoma | Oncogenic | ||||||
| GLIS2 Fusion3 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID7126Whole transcriptome RNA-seq was performed in pediatric patients with cytogenetically normal acute myeloid leukemia. Identified a recurrent cryptic inversion of chromosome 16, that gives rise to an in… (full text at CIViC) PMID 23407549 · Masetti et al., 2013 · Open in CIViC | civic |
| 〃 | Childhood Acute Megakaryoblastic Leukemia | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID8503Acute megakaryoblastic leukemia (AMKL) is a rare subtype of AML. CBFA2T3/GLIS2 and NUP98/KDM5A are recurrent aberrations, occurring in similar frequencies as RBM15/MKL1 and KMT2A-rearrangements. In th… (full text at CIViC) PMID 27114462 · de Rooij et al., 2016 · Open in CIViC | civic |
| 〃 | Acute Megakaryoblastic LeukemiaALIAS | |||||||
| MYH11 Fusion6 | ||||||||
| (prognostic) | Acute Myeloid Leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11ALIAS | Prognostic | B | Supports Better Outcome | 5 | submitted | EID11788This study evaluated the independent prognostic significance of pretreatment cytogenetics based on the large Medical Research Council (MRC) AML 10 trial which enrolled a total of 1,966 patients (364 c… (full text at CIViC) PMID 9746770 · Grimwade et al., 1998 · Open in CIViC | civic |
| (diagnostic) | Acute Myeloid Leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11ALIAS | Diagnostic | B | Supports Positive | 5 | accepted | EID11791This is a Cancer and Leukemia Group B study on core binding factor (CBF) AML (2005): AML with RUNX1::RUNX1T1 (303 adult patients who received treatment) vs AML with CBFB::MYH11 (164 patients who recei… (full text at CIViC) PMID 16110030 · Marcucci et al., 2005 · Open in CIViC | civic |
| 〃 | ||||||||
| MYH11 Fusion + ABL2 FusionMYH11ABL21 | ||||||||
| (oncogenic) | Acute Myeloid LeukemiaCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID12490A 54 year old woman was diagnosed with AML by morphology. 45% myeloblasts, 22% monoblasts, 30% eosinophils, and 3% plasma cells were detected and she was classified as AML-M4 with eosinophilia. RTPCR … (full text at CIViC) PMID 10590083 · Cazzaniga et al., 1999 · Open in CIViC | civic |
| CBL c.1477C>T1 | ||||||||
| (predisposing) | Acute Myeloid LeukemiaCURATED_BROADER | Predisposing | C | Supports Predisposition | 1 | submitted | EID9071Pathogenic variants in the CBL have been associated with disease, specifically, acute myeloid leukemia (AML). The authors present a case study of a 5-year-old male with a history of (infant) AML, who … (full text at CIViC) PMID 33550024 · Norris et al., 2021 · Open in CIViC | civic |
| CBL Y371H1 | ||||||||
| (predisposing) | Juvenile Myelomonocytic Leukemia | Predisposing | C | Supports Predisposition | 3 | accepted | EID7147Three patients displayed variable developmental conditions with predisposition to JMML. All cases included a copy neutral loss of heterozygosity of the 11q23 chromosomal region, encompassing the CBL l… (full text at CIViC) PMID 20543203 · Pérez et al., 2010 · Open in CIViC | civic |
Data updated 7 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.
PMID 29472347 · Bhatia et al., 2018 · Open in CIViC
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| Vemurafenib | Langerhans Cell Sarcoma | Predictive | B | Supports Sensitivity Response | 4 | accepted | EID7583Off-label use of vemurafenib to treat BRAF V600E mutation-positive, refractory, childhood Langerhans cell histiocytosis (LCH) was evaluated. Fifty-four patients from 12 countries were treated with vem… (full text at CIViC) PMID 31513482 · Donadieu et al., 2019 · Open in CIViC | civic |
| 〃 | Hairy Cell Leukemia | Predictive | B | Supports Sensitivity Response | 3 | submitted | EID11315In these two phase II studies (Italy and U.S. locations), BRAF V600E-mutant hairy-cell leukemia was treated with vemurafenib at a dose of 960 mg twice daily to investigate its efficacy. The overall re… (full text at CIViC) PMID 26352686 · Tiacci et al., 2015 · Open in CIViC | civic |
| 〃 | Hairy Cell Leukemia | Predictive | B | Supports Sensitivity Response | 2 | accepted | EID1579Two clinical trials evaluated the effects of vemurafenib in 54 patients with BRAF (V600E) positive hairy-cell leukemia. The overall response rate was 98% with 19/54 having a complete response and 34/… (full text at CIViC) PMID 26352686 · Tiacci et al., 2015 · Open in CIViC | civic |
| 〃 | Multiple Myeloma | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID1698A 65-year-old man presented with stage II myeloma. He was initially treated with chemotherapy and he received an autologous stem cell transplant. Sequencing of the recurrent tumor harbored BRAF V600E… (full text at CIViC) PMID 24997557 · Sharman et al., 2014 · Open in CIViC | civic |
| 〃 | Multiple Myeloma | Predictive | C | Supports Sensitivity Response | 2 | accepted | EID1699A 54-year-old man presented with stage II myeloma. He was initially treated with chemotherapy and received an autologous stem cell transplant. Genomic profiling of the bone biopsy revealed BRAF V600… (full text at CIViC) PMID 24997557 · Sharman et al., 2014 · Open in CIViC | civic |
| 〃 | Hairy Cell Leukemia | Predictive | C | Supports Sensitivity Response | — | submitted | EID3766In a refractory hairy cell leukemia patient harboring BRAF V600E mutation, BRAF V600E was associated with sensitivity to vemurafenib treatment. The patient was initially treated with conventional trea… (full text at CIViC) PMID 22621641 · Dietrich et al., 2012 · Open in CIViC | civic |
| 〃 | Hairy Cell Leukemia | Predictive | C | Supports Sensitivity Response | — | submitted | EID3767In a case report, a hairy cell leukemia (HCL) patient harboring BRAF V600E mutation was associated with a complete response to vemurafenib monotherapy after 3 months of treatment, which was sustained … (full text at CIViC) PMID 23300174 · Peyrade et al., 2013 · Open in CIViC | civic |
| 〃 | Hairy Cell Leukemia | Predictive | C | Supports Sensitivity Response | — | submitted | EID3768In a hairy cell leukemia patient harboring BRAF V600E mutation, BRAF V600E mutation was associated with improved response to vemurafenib treatment. The patient was treated with 3 lines of chemotherapy… (full text at CIViC) PMID 23278307 · Follows et al., 2013 · Open in CIViC | civic |
| 〃 | Hairy Cell Leukemia | Predictive | C | Supports Sensitivity Response | — | submitted | EID3769As a follow-up to a previous study (23300174), a hairy cell leukemia patient harboring BRAF V600E mutation was associated with response to vemurafenib monotherapy. The patient was previously treated w… (full text at CIViC) PMID 25815361 · Bailleux et al., 2015 · Open in CIViC | civic |
| 〃 | Hairy Cell Leukemia | Predictive | C | Supports Sensitivity Response | — | submitted | EID3770A hairy cell leukemia patient with extensive CNS involvement patient harboring BRAF V600E mutation was associated with complete response to vemurafenib monotherapy. Upon identification of the BRAF V60… (full text at CIViC) PMID 27116997 · McDowell et al., 2016 · Open in CIViC | civic |
| Venetoclax | Diffuse Large B-Cell LymphomaCURATED_BROADER | Predictive | D | Supports Resistance | 3 | submitted | EID8952In a preclinical study, Diffuse large B-cell lymphoma cell lines expressing BRAF V600E were resistant to a BCL-2 inhibitor, venetoclax, demonstrating cell growth inhibition at half-maximal growth inhi… (full text at CIViC) PMID 29463802 · Herling et al., 2018 · Open in CIViC | civic |
| Prognostic |
| B |
| Supports Better Outcome |
| 3 |
| submitted |
EID6386In a study of 617 patients with primary myelofibrosis, 140 CALR-mutated patients harboring the type 1 (N=101, 52-bp deletion L367fs*46), the type 2 mutation (N=22, 5-bp insertion K385fs*47) or other i… (full text at CIViC) PMID 24986690 · Rumi et al., 2014 · Open in CIViC |
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| 〃 | Essential Thrombocythemia | Prognostic | B | Supports Better Outcome | 3 | submitted | EID6387In a study of 402 patients with essential thrombocythemia, 227 harbored JAK2 mutations and 114 harbored CALR mutations (51 type 1 L367fs*46 and 44 type 2 K385fs*47). Overall survival did not differ be… (full text at CIViC) PMID 24753125 · Tefferi et al., 2014 · Open in CIViC | civic |
| 〃 | Primary MyelofibrosisALIAS | Prognostic | B | Supports Poor Outcome | 2 | submitted | EID6388In the subset of patients with myelofibrosis (including primary myelofibrosis and post-essential thrombocythemia MF), (including PMF and post-ET MF), patients with type 1 mutations (N=33) had poorer o… (full text at CIViC) PMID 25212275 · Cabagnols et al., 2015 · Open in CIViC | civic |
| 〃 | Essential Thrombocythemia | Prognostic | B | Does Not Support Poor Outcome | 2 | submitted | EID6389In the subset of patients with essential thrombocythemia (including potential unidentified prefibrotic stage of myelofibrosis), patients with type 1 L367fs*46 mutations (N=111) had no significant diff… (full text at CIViC) PMID 25212275 · Cabagnols et al., 2015 · Open in CIViC | civic |
| Peginterferon Alfa-2a | Essential Thrombocythemia | Predictive | B | Supports Sensitivity Response | 4 | accepted | EID1482Study explored the hematologic and molecular responses in a cohort of 31 patients presenting with thrombocythemia and CALR exon 9 frameshift mutations. All 31 patients exhibited a hematologic response… (full text at CIViC) PMID 26486786 · Verger et al., 2015 · Open in CIViC | civic |
| E |
| Supports Oncogenicity |
| 3 |
| submitted |
EID11844Genetic heterogeneity in primary and relapsed mantle cell lymphomas: Impact of recurrent CARD11 mutations PMID 27224912 · Wu et al., 2016 · Open in CIViC |
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| Prognostic |
| B |
| Supports Poor Outcome |
| 4 |
| submitted |
EID8551The authors studied non-Down syndrome acute megakaryoblastic leukemia (non-DS-AMKL). Transcriptome sequencing was performed on diagnostic blasts from 14 patients. Validation cohort consisted of 34 ped… (full text at CIViC) PMID 23153540 · Gruber et al., 2012 · Open in CIViC |
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| Acute Myeloid Leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11ALIAS |
| Diagnostic |
| B |
| Supports Positive |
| 5 |
| accepted |
EID11792A metanalysis study from the German AML Intergroup (2004) on AML-CBF included 8 German multicenter treatment trials enrolling patients with AML with RUNX1::RUNX1T1 (191 adult patients) and CBFB::MYH11… (full text at CIViC) PMID 15289486 · Schlenk et al., 2004 · Open in CIViC |
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| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Better Outcome | 4 | rejected | EID1026The CBFB-MYH11 fusion has been shown to be associated with favorable prognosis in patients with acute myeloid leukemia. PMID 22180162 · Estey, 2012 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Better Outcome | 4 | accepted | EID1027The CBFB-MYH11 fusion has been shown to be associated with favorable prognosis in acute myeloid leukemia. PMID 22180162 · Estey, 2012 · Open in CIViC | civic |
| (diagnostic) | Acute Myeloid Leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11ALIAS | Diagnostic | B | Supports Positive | 3 | accepted | EID11793A small study on 18 patients of AML with inv(16)(p13q22) [now known to correspond to CBFB::MYH11 fusion] identified abnormal eosinophils as a unique morphologic characteristic of this entity. 76.5% ac… (full text at CIViC) PMID 6577285 · Le Beau et al., 1983 · Open in CIViC | civic |