Cancer Family
Malignant Bone Marrow Neoplasm
CI-CAN-00000226Explore in graph →
1,034 active trials28 approved drugs633 evidence items
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Cancer Family
CI-CAN-00000226Explore in graph →
Variants & evidence
1,124 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 |
|---|---|---|---|---|---|---|---|---|
| VHL D126N (c.376G>A)1 | ||||||||
| (predisposing) | Polycythemia Vera | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6856A case report revealed a 7 month old male infant of Bangladesh ethnicity with a novel homozygous VHL germline missense (c.376G>A; p.Asp126Asn) mutation with congenital polycythemia and dramatically el… (full text at CIViC) PMID 24729484 · Sarangi et al., 2014 · Open in CIViC | civic |
| VHL H191D (c.571C>G)1 | ||||||||
| (predisposing) | Polycythemia Vera | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6485A 12 year old white male child presented with polycythemia. Genetic testing confirmed a germline missense mutation found at c.571C>G (p.His191Asp) in the VHL gene. This is the only other case of a hom… (full text at CIViC) PMID 16617601 · Hajnzić et al., 2006 · Open in CIViC | civic |
| VHL R200W (c.598C>T)1 | ||||||||
| (predisposing) | Polycythemia Vera | Predisposing | C | Supports Uncertain Significance | 2 | submitted | EID6470Plasma concentrations of Th1 and Th2 cytokines were analyzed using the Bio-Plex multiplex suspension array system in 34 homozygotes VHL patients, 4 heterozygous VHL patients, and 32 VHL wild-type part… (full text at CIViC) PMID 19062180 · Niu et al., 2009 · 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 Fusion3 | ||||||||
| (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 |
| Imatinib | Myeloproliferative NeoplasmCURATED_BROADER | Predictive | A | Supports Sensitivity Response | 4 | accepted | EID1498Twelve patients with BCR-ABL-negative chronic myeloproliferative disease and reciprocal translocations involving PDGFRB received imatinib for a median of 47 months (range, 0.1-60 months). Eleven had p… (full text at CIViC) PMID 16960151 · David et al., 2007 · Open in CIViC | civic |
| 〃 | Myeloproliferative NeoplasmCURATED_BROADER | Predictive | ||||||
| WT1 Exon 7 Mutation9 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Does Not Support N/A | 4 | accepted | EID163Rates of complete remission and refractory disease are not different in patients with WT1 mutations (69% exon 7, 15% exon 9) than those without in young (16-60) patients with cytogenetically normal AM… (full text at CIViC) PMID 19221039 · Gaidzik et al., 2009 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Does Not Support N/A | 3 | accepted | EID162No differences in relapse-free or overall survival were identified between young (16-60) patients with or without WT1 mutations (69% exon 7, 15% exon 9) in cytogenetically normal AML. PMID 19221039 · Gaidzik et al., 2009 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | |||||||
| WT1 Exon 9 Mutation2 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Does Not Support N/A | 4 | accepted | EID165Rates of complete remission and refractory disease are not different in patients with WT1 mutations (69% exon 7, 15% exon 9) than those without in young (16-60) patients with cytogenetically normal AM… (full text at CIViC) PMID 19221039 · Gaidzik et al., 2009 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID210WT1 mutations were associated with shorter overall and disease free survival in a cohort of cytogenetically normal, young (<60) AML patients. PMID 18559874 · Paschka et al., 2008 · Open in CIViC | civic |
| WT1 Mutations1 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 5 | submitted | EID8563WT1 mutations (documented across the protein) appear more frequently and impact new sites in childhood AML as compared to adult AML. The co-occurrence of a FLT3-ITD with WT1 mutations (and/or NUP98-NS… (full text at CIViC) PMID 29227476 · Bolouri et al., 2018 · Open in CIViC | civic |
| FLT3 Fusion1 | ||||||||
| (diagnostic) | Myeloproliferative NeoplasmCURATED_BROADER | Diagnostic | C | Supports Positive | 3 | submitted | EID13108A 64-year-old man presented with splenomegaly, peripheral eosinophilia, and bone marrow findings consistent with myeloproliferative neoplasm with eosinophilia. Cytogenetic analysis identified a balanc… (full text at CIViC) PMID 32866288 · Zhou et al., 2020 · 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 |
| FGFR1 Fusion1 | ||||||||
| Midostaurin | Myeloproliferative NeoplasmCURATED_BROADER | Predictive | C | Supports Sensitivity Response | 4 | accepted | EID1104A t(8;13)(p11;q12) patient with ZNF198-FGFR1-induced progressive myeloproliferative disorder was treated with PKC412. Radiographic studies performed 3 months after initiation of therapy revealed marke… (full text at CIViC) PMID 15448205 · Chen et al., 2004 · Open in CIViC | civic |
| FLT3 Fusion1 | ||||||||
| (diagnostic) | Myeloproliferative NeoplasmCURATED_BROADER | Diagnostic | C | Supports Positive | 4 | submitted | EID13104This study reported two cases of myeloproliferative neoplasm with eosinophilia harboring a ZMYM2::FLT3 fusion, which was cytogenetically cryptic and resulted from an approximately 8-Mb inversion. Case… (full text at CIViC) PMID 28751768 · Jawhar et al., 2017 · Open in CIViC | civic |
| ZRSR2 MUTATION1 | ||||||||
| (diagnostic) | Acute Myeloid LeukemiaCURATED_BROADER | Diagnostic | B | Supports Positive | 2 | submitted | EID7466ZRSR2 is part of the spliceosome. Mutation in SRSF2, SF3B1, U2AF1, ZRSR2, ASXL1, EZH2, BCOR, or STAG2 was >95% specific for the diagnosis of secondary-AML PMID 25550361 · Lindsley et al., 2015 · Open in CIViC | civic |
Data updated 2 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.
| A |
| Supports Sensitivity Response |
| 4 |
| submitted |
EID11272In this phase II, open-label, single-arm trial, 106 patients with 40 different malignancies were enrolled (78.5% solid tumours, 21.5% hematologic malignancies), including seven with myeloproliferative… (full text at CIViC) PMID 18451237 · Heinrich et al., 2008 · Open in CIViC |
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| Prognostic |
| B |
| Supports Poor Outcome |
| 3 |
| accepted |
EID203Patients with WT1 (69% exon 7, 15% exon 9) and FLT3-ITD mutations had significantly lower complete remission and higher refractory disease rates than those with wildtype WT1 and without FLT3-ITD follo… (full text at CIViC) PMID 19221039 · Gaidzik et al., 2009 · Open in CIViC |
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| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID204WT mutations were associated with shorter overall and disease free survival in a cohort of cytogenetically normal, young (<60) AML patients. PMID 18559874 · Paschka et al., 2008 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID205WT1 mutations were a negative prognostic factor for overall survival in young (15-60+, median 45) patients with cytogenetically normal AML. PMID 18591546 · Virappane et al., 2008 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID206WT1 mutations were associated with a higher cumulative incidence of relapse and shorter relapse free survival in young (15-60+, median 45) patients with cytogenetically normal AML. PMID 18591546 · Virappane et al., 2008 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 2 | accepted | EID201Mutations in WT1 were associated with increased risk of recurrence in young patients (15-50) with cytogenetically normal AML. PMID 19536888 · Renneville et al., 2009 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 2 | accepted | EID202Mutations in WT1 were associated with a worse overall prognosis than patients wildtype for WT1 in young patients (15-50), primarily because of increased risk of disease recurrence. PMID 19536888 · Renneville et al., 2009 · Open in CIViC | civic |
| Cytarabine + DaunorubicinCombination | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | B | Supports Resistance | 3 | accepted | EID139WT1 mutations were associated with an inferior response to induction chemotherapy with a higher rate of resistant disease in young (15-60+, median 45) patients with cytogenetically normal AML. PMID 18591546 · Virappane et al., 2008 · Open in CIViC | civic |