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Variants & evidence
16 evidence items mapped to this entity or its descendants, grouped by molecular profile, then therapy. 50 items per page.
| Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|
| KIT D816V12 | |||||||
| (prognostic) | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID1726The D816V+ advanced systemic mastocytosis patients with additional mutations in SRSF2 (N=30), ASLX1 (N=20), or RUNX1 (N=16) exhibited lower overall survival over 14 years as compared to D816V+ patient… (full text at CIViC) PMID 26464169 · Jawhar et al., 2016 · Open in CIViC | civic |
| (oncogenic) | Oncogenic | D | Supports Oncogenicity | 4 | submitted | EID12411The authors studied the role of the KIT D816V variant in promoting inflammation in systemic mastocytosis. They used patients’ bone marrow-derived mast cells, as well as mouse mast cell line (MCBS1, en… (full text at CIViC) PMID 30948489 · Tobío et al., 2020 · Open in CIViC | civic |
| 〃 | Oncogenic | D | Supports Oncogenicity | 3 | submitted | EID12913In this study, the authors investigated pediatric mastocytosis and compared the functional properties of KIT extracellular domain (ECD) variants with phosphotransferase domain (PTD) variants, includin… (full text at CIViC) PMID 20484085 · Yang et al., 2010 · Open in CIViC | civic |
| 〃 | Oncogenic | D | Supports Oncogenicity | 3 | submitted | EID12914In this study, the authors analyzed the functional consequences of the KIT D816V variant in murine hematopoietic progenitor cells (MIHCs). MIHCs expressing KIT D816V exhibited factor-independent growt… (full text at CIViC) PMID 11520784 · Chian et al., 2001 · Open in CIViC | civic |
| 〃 | Oncogenic | D | Supports Oncogenicity | 3 | submitted | EID12916In this study, the authors evaluated a panel of activating KIT variants, including KIT D816V, for their transforming capacity and downstream signaling in hematologic malignancies associated with syste… (full text at CIViC) PMID 15790786 · Growney et al., 2005 · Open in CIViC | civic |
| 〃 | Oncogenic | D | Supports Oncogenicity | 3 | submitted | EID12917In this study, the authors investigated the structural and functional effects of the KIT D816V variant using molecular modeling, molecular dynamics simulations, docking studies, and Ba/F3 cell-based a… (full text at CIViC) PMID 16190746 · Vendôme et al., 2005 · Open in CIViC | civic |
| Avapritinib | Predictive | A | Supports Sensitivity Response | 4 | submitted | EID11274In this phase I, open-label, dose-escalation trial, 86 patients (n = 69 had AdvSM n = 14 had indolent SM, n = 2 had smoldering SM, and n = 1 had chronic myelomonocytic leukemia) were enrolled. 36 pati… (full text at CIViC) PMID 34873347 · DeAngelo et al., 2021 · Open in CIViC | civic |
| Imatinib | Predictive | B | Supports Resistance | 3 | accepted | EID11160In this open-label phase II study, 20 patients with systemic mastocytosis (SM) were enrolled between 2003 and 2005 and treated with imatinib mesylate. Thirteen of the 20 patients were positive for the… (full text at CIViC) PMID 19193436 · Vega-Ruiz et al., 2009 · Open in CIViC | civic |
| Midostaurin | Predictive | B | Supports Sensitivity Response | 4 | accepted | EID1725In a phase II clinical trial, 60% of patients (N=89) with advanced systemic mastocytosis responded to treatment with midostaurin. PMID 27355533 · Gotlib et al., 2016 · Open in CIViC | civic |
| Imatinib | Predictive | B | Supports Sensitivity Response | 3 | accepted | EID11158In this open-label phase II study, 20 patients with systemic mastocytosis (SM) were recruited between 2003 and 2005. Seven of 20 patients were KIT D816V mutation-negative. Among these, one patient wit… (full text at CIViC) PMID 19193436 · Vega-Ruiz et al., 2009 · Open in CIViC | civic |
| Imatinib Mesylate | Predictive | C | Supports Sensitivity Response | 2 | submitted | EID11367In this case report, a 24-year-old female patient with systemic mastocytosis (SM) and without KIT D816V mutation was treated with imatinib at a 400mg dose/daily. The patient showed excellent clinical… (full text at CIViC) PMID 27741105 · Huang et al., 2016 · Open in CIViC | civic |
| 〃 | Predictive | C | Supports Sensitivity Response | 1 | submitted | EID11164In this case report, a 56 y/o female patient with normal karyotyping and no KIT mutation was diagnosed with systemic mastocytosis associated with MDS/MPN . Treatment with imatinib was initiated at a d… (full text at CIViC) PMID 35096623 · Barozzi et al., 2021 · Open in CIViC | civic |
| KIT D816V + KIT F522C1 | |||||||
| Imatinib Mesylate | Predictive | C | Supports Sensitivity Response | 3 | submitted | EID11366In this case report, a 25-year-old female patient, with a history of cutaneous mastocytosis at age 5 months, was presented for evaluation of systemic mastocytosis (SM). The patient went through 5 mon… (full text at CIViC) PMID 15070706 · Akin et al., 2004 · Open in CIViC | civic |
| KIT D816F + KIT D816V + KIT D816Y + KIT V560G2 | |||||||
| Imatinib Mesylate | Predictive | B | Supports Sensitivity Response | 3 | submitted | EID11163In this phase IV clinical trial, ten patients with systemic mastocystosis (SM) were recruited to test efficacy and safety of imatinib. Nine patients fulfilled criteria for well-differentiated SM (WDSM… (full text at CIViC) PMID 28978170 · Alvarez-Twose et al., 2017 · Open in CIViC | civic |
| 〃 | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID11162In this preclinical study, two subclones of human mast cell leukemia line were used to investigate cellular response to KIT inhibitor STI571. HMC1.1 cell line expressing only the KIT V560G mutation an… (full text at CIViC) PMID 11861291 · Ma et al., 2002 · Open in CIViC | civic |
| KIT D816V + PDGFRB FusionKITPDGFRB1 | |||||||
| Imatinib Mesylate | Predictive | C | Supports Sensitivity Response | 3 | submitted | EID11368In this case report, a 61 yearl-old male patient was diagnosed with systemic mastocytosis (SM). Genetic screening for KIT mutaitons, including the D816V mutation, was negative. FISH analysis showed a … (full text at CIViC) PMID 18166785 · Lahortiga et al., 2008 · 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.