Hematologic Malignancy
Myelodysplastic/Myeloproliferative Neoplasm
CI-CAN-00001250Explore in graph →
Hematologic115 active trials3 approved drugs6 evidence items
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Hematologic Malignancy
CI-CAN-00001250Explore in graph →
Variants & evidence
14 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 |
|---|---|---|---|---|---|---|---|---|
| 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 |
| CSF3R Mutation1 | ||||||||
| (diagnostic) | Atypical Chronic Myeloid LeukemiaALIAS | Diagnostic | B | Supports Positive | 3 | accepted | EID1389Study found that mutations in CSF3R are enriched in patients with Chronic Neutrophilic Leukemia (CNL) or Atypical Chronic Myeloid Leukemia (16/27, 59%) when compared to other blood disorders (AML=1/29… (full text at CIViC) PMID 23656643 · Maxson et al., 2013 · Open in CIViC | civic |
| KRAS Mutation1 | ||||||||
| (predisposing) | Chronic Myelomonocytic Leukemia | Predisposing | D | Supports Likely Pathogenic | 3 | submitted | EID7166Plays a causative role in leukemogenesis. RAS existed in a GTP-bound state in greater abundance than wild type, leading to increased phosphorylation of ERK (Fig. 2) Identified as oncogenic alleles in … (full text at CIViC) PMID 19075190 · Tyner et al., 2009 · Open in CIViC | civic |
| FLT3 Fusion1 | ||||||||
| (diagnostic) | Atypical Chronic Myeloid LeukemiaALIAS | Diagnostic | C | Supports Positive | 4 | submitted | EID13106This study describes a novel MYO18A::FLT3 fusion in a 47-year-old male with mixed myelodysplastic/myeloproliferative features. He presented with leukocytosis, splenomegaly, and atypical chronic myeloi… (full text at CIViC) PMID 30559310 · Zhang et al., 2018 · Open in CIViC | civic |
| NTRK2 R458G2 | ||||||||
| (oncogenic) | Atypical Chronic Myeloid LeukemiaALIAS | Oncogenic | C | Supports Oncogenicity | 3 | submitted | EID8610This variant was found in one case of atypical CML out of 185 hematological malignancies. The authors propose that NTRK2 R458G, residing in the juxtamembrane domain, activates TrkB via noncanonical me… (full text at CIViC) PMID 32315394 · Joshi et al., 2020 · Open in CIViC | civic |
| Entrectinib + LarotrectinibSubstitutes | Atypical Chronic Myeloid LeukemiaALIAS | Predictive | C | Supports Sensitivity Response | 2 | submitted | EID8625This variant was found in one case of atypical CML out of 185 hematological malignancies. The authors propose that NTRK2 R458G, residing in the juxtamembrane domain, activates TrkB via noncanonical me… (full text at CIViC) PMID 32315394 · Joshi et al., 2020 · Open in CIViC | civic |
| PTPN11 D61Y1 | ||||||||
| (diagnostic) | Juvenile Myelomonocytic Leukemia | Diagnostic | B | Supports Positive | 3 | submitted | EID6967We identified missense mutations in PTPN11 in 21 of 62 individuals with JMML but without Noonan syndrome (34%; 95% confidence interval (c.i.) = 22–47%), with nine different molecular defects in exon 3… (full text at CIViC) PMID 12717436 · Tartaglia et al., 2003 · Open in CIViC | civic |
| SETBP1 D868N1 | ||||||||
| (diagnostic) | Juvenile Myelomonocytic Leukemia | Diagnostic | B | Supports Positive | 3 | submitted | EID6968Five of the 11 somatic mutations were non–RAS pathway mutations, involving SETBP1 (3 p.Asp868Asn alterations), JAK3 (1 p.Arg657Gln alteration) and SH3BP1 (1 p.Ser277Leu alteration), which had not been… (full text at CIViC) PMID 23832011 · Sakaguchi et al., 2013 · Open in CIViC | civic |
| SETBP1 Exon 4 Mutation1 | ||||||||
| (prognostic) | Atypical Chronic Myeloid LeukemiaALIAS | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID839Atypical Chronic Myeloid Leukemia has the same symptoms as CML, but it lacks the BCR-ABL1 fusion. Targeted sequencing of 70 aCML patients identified SETBP1 mutations between codons 858 and 871 in 24.3… (full text at CIViC) PMID 23222956 · Piazza et al., 2013 · Open in CIViC | civic |
| FLT3 Fusion1 | ||||||||
| Bone Marrow Transplantation + Donor Lymphocyte InfusionSequential | Atypical Chronic Myeloid LeukemiaALIAS | Predictive | C | Supports Sensitivity Response | 4 | submitted | EID13100This study describes a 32-year-old female with atypical chronic myeloid leukemia (aCML) and a complex translocation [(t(2;13;2;21)(p13;q12;q33;q11.2)] resulting in a novel in frame SPTBN1::FLT3 fusion… (full text at CIViC) PMID 17764812 · Grand et al., 2007 · Open in CIViC | civic |
| FGFR1 Fusion1 | ||||||||
| (diagnostic) | Chronic Myelomonocytic Leukemia | Diagnostic | A | Supports Negative | 5 | accepted | EID1427The 2016 World Health Organization guidelines for the classification of myeloid malignancies uses the detection of PCM1-JAK2 or rearrangements involving PDGFRA, PDGFRB, or FGFR1 as recommended exclusi… (full text at CIViC) PMID 27069254 · Arber et al., 2016 · Open in CIViC | civic |
| PDGFRA Fusion1 | ||||||||
| (diagnostic) | Chronic Myelomonocytic Leukemia | Diagnostic | A | Supports Negative | 5 | accepted | EID1425The 2016 World Health Organization guidelines for the classification of myeloid malignancies uses the detection of PCM1-JAK2 or rearrangements involving PDGFRA, PDGFRB, or FGFR1 as recommended exclusi… (full text at CIViC) PMID 27069254 · Arber et al., 2016 · Open in CIViC | civic |
| PDGFRB Fusion1 | ||||||||
| (diagnostic) | Chronic Myelomonocytic Leukemia | Diagnostic | A | Supports Negative | 5 | accepted | EID1426The 2016 World Health Organization guidelines for the classification of myeloid malignancies uses the detection of PCM1-JAK2 or rearrangements involving PDGFRA, PDGFRB, or FGFR1 as recommended exclusi… (full text at CIViC) PMID 27069254 · Arber et al., 2016 · Open in CIViC | civic |
| ABL1 Fusion1 | ||||||||
| Azacitidine + DasatinibCombination | Chronic Myelomonocytic Leukemia | Predictive | C | Supports Sensitivity Response | 4 | submitted | EID12636A 60-year-old presented with bloating and shortness of breath. Records showed leukocytosis (white blood cell count of 12 × 109/L) with enlarged spleen. WBC was 16.43 × 10^9/L. abdominal ultrasound sho… (full text at CIViC) PMID 36694063 · Liu et al., 2023 · Open in CIViC | civic |
Data updated 17 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.