Cancer Family
Myeloid Neoplasm
CI-CAN-00000279Explore in graph →
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Cancer Family
CI-CAN-00000279Explore in graph →
Variants & evidence
1,187 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 Y253H + ABL1 Fusion7 | ||||||||
| Dasatinib | 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 |
| 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 |
| 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 V6004 | ||||||||
| 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 | ||||
| BRAF V600E2 | ||||||||
| 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… (full text at CIViC) PMID 29472347 · Bhatia et al., 2018 · Open in CIViC | civic |
| 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 |
| 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 |
| 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 |
| 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 |
| CDKN2B METHYLATION1 | ||||||||
| (prognostic) | Acute Promyelocytic Leukemia | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID1848This study analyses 45 new acute promyelocytic leukemia patients (22 male and 23 female). CDKN2B was found to be a negative prognostic biomarker for disease free survival (DFS). The 5-year DFS was 9.6… (full text at CIViC) PMID 16307009 · Chim et al., 2006 · Open in CIViC | civic |
| CEBPA BIALLELIC INACTIVATION1 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Better Outcome | 5 | accepted | EID1512In a study of 1,540 patients with Acute Myeloid Leukemia, 66 patients (4%) had a CEBPA (biallelic) mutation. In the absence of gene fusion products, patients with biallelic CEBPA mutations showed the… (full text at CIViC) PMID 27276561 · Papaemmanuil et al., 2016 · Open in CIViC | civic |
| CEBPA Mutation9 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Better Outcome | 4 | accepted | EID167In young patients (age 16-60) with previously untreated, cytogenetically normal acute myeloid leukemia, CEBPA mutation was significantly associated with complete remission in multivariate analysis (od… (full text at CIViC) PMID 18450602 · Schlenk et al., 2008 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Better Outcome | 4 | accepted | EID467In children with acute myeloid leukemia, those with mutations in CEBPA had better overall and event-free survival and decreased cummulative incidence of relapse. PMID 19304957 · Ho et al., 2009 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | ||||||
Data updated 15 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.
| 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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| 〃 | 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 |
| 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 |
| 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 |
| B |
| Supports Better Outcome |
| 4 |
| accepted |
EID468In a set of 315 pediatric patients with acute myeloid leukemia, 47 had mutations in CEBPA. Those with mutations had better overall survival than wild-type patients. PMID 25014773 · Matsuo et al., 2014 · Open in CIViC |
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| (diagnostic) | Acute Myeloid Leukemia with CEBPA MutationALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID12173In this 2022 study, the authors highlighted the diagnostic significance of different types of CEBPA mutations in 4,708 adult AML patients, recruited into the Study Alliance Leukemia trials and spannin… (full text at CIViC) PMID 34320176 · Taube et al., 2022 · Open in CIViC | civic |
| 〃 | Acute Myeloid Leukemia with CEBPA MutationALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID12174In this 2022 study, the authors investigated the diagnostic significance of CEBPA mutations in AML, focusing on data from a large cohort of 1,028 patients aged 70 years or younger from the Japanese Mu… (full text at CIViC) PMID 34448807 · Wakita et al., 2022 · Open in CIViC | civic |
| (prognostic) | Acute Myeloid Leukemia with CEBPA MutationALIAS | Prognostic | B | Supports Better Outcome | 4 | accepted | EID12231In this 2021 study, the authors examined the prognostic implications of CEBPA mutations in pediatric and young adult acute myeloid leukemia (AML) by analyzing 2958 patients enrolled in Children’s Onco… (full text at CIViC) PMID 33951732 · Tarlock et al., 2021 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Better Outcome | 3 | accepted | EID166In a group of young (<60 years old) acute myeloid leukemia (exclude acute promyelocytic leukemia) and high-risk MDS patients, those with CEBPA mutations (35/423) showed marginally improved overall sur… (full text at CIViC) PMID 19965647 · Burnett et al., 2010 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Better Outcome | 3 | accepted | EID168Overall survival and remission duration were significantly longer (p=0.01 and p=0.05, respectively) in younger (16-60), cytogenetically normal acute myeloid leukemia patients with CEBPA mutations (21/… (full text at CIViC) PMID 14726504 · Fröhling et al., 2004 · Open in CIViC | civic |
| (diagnostic) | Acute Myeloid Leukemia with CEBPA MutationALIAS | Diagnostic | B | Supports Positive | 3 | accepted | EID12172In this 2021 study, the authors investigated the role of CEBPA mutations in the diagnosis and prognosis of pediatric and young adult acute myeloid leukemia (AML) in 2958 patients enrolled in Children… (full text at CIViC) PMID 33951732 · Tarlock et al., 2021 · Open in CIViC | civic |