Disease: Mastocytosis, Systemic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE The discovery of KIT mutations as central to the pathobiology of mastocytosis has prompted development of KIT-targeted agents, including imatinib and midostaurin (approved medications for patients with advanced systemic mastocytosis), and drugs in development, like KIT D816V-specific inhibitor avapritinib. 30007460 2018
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE We recently introduced the D816V+ allele fraction as a disease marker in SM using a sensitive and quantitative KIT D816V mutation analysis that consistently allows mutation detection in peripheral blood (PB) and bone marrow (BM). 23621866 2013
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE The prognostic impact of c-KIT mutation in systemic mastocytosis associated with acute myeloid leukaemia patients. 23683787 2013
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE The majority of patients with systemic mastocytosis exhibit a D816V mutation in the activating loop of the Kit receptor expressed on mast cells. 23152053 2012
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE Well-differentiated systemic mastocytosis (WDSM) is a rare variant of systemic mastocytosis (SM) characterized by bone marrow (BM) infiltration by mature-appearing mast cells (MCs) often lacking exon 17 KIT mutations. 26100086 2016
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 Biomarker disease BEFREE We conclude that EXEL-0862 is active against KIT activation loop mutants and is a promising candidate for the treatment of patients with SM and other KIT-driven malignancies harboring active site mutations. 16912224 2007
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 Biomarker disease BEFREE We examined expression of SIRPalpha, SIRPalpha ligand CD47, and Src homology 2 domain-containing protein tyrosine phosphatase-1 (SHP-1), a tyrosine phosphatase-type, negative regulator of KIT-dependent signaling, in normal human lung mast cells (HLMC) and neoplastic MC obtained from nine patients with SM. 15784688 2005
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE In summary, we have identified CCL2 as a novel KIT D816V-dependent key regulator of vascular cell migration and angiogenesis in SM. 27856463 2017
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE In this study, we report two cases of AML t(8;21) associated SM that KIT mutation occurred in exon 8 (T417_D419delinsY). 31004601 2019
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE KIT GNNK splice variants: expression in systemic mastocytosis and influence on the activating potential of the D816V mutation in mast cells. 23743299 2013
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE An acquired somatic mutation at codon 816 in the KIT receptor tyrosine kinase is associated with poor prognosis in patients with systemic mastocytosis and acute myeloid leukemia (AML). 24091327 2013
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE Ours is the the first case report in the literature of an adult with systemic mastocytosis likely due to a p.Arg634Trp KIT mutation. 28520972 2017
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease LHGDN Systemic mastocytosis involving the gastrointestinal tract: clinicopathologic and molecular study of five cases. 18931652 2008
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE Here we investigated IL1β, IL6, IL13, CCL23 and clusterin plasma levels in 75 SM patients--66 indolent SM (ISM) and 9 aggressive SM--and analyzed their prognostic impact among ISM cases grouped according to the extent of hematopoietic involvement of the bone marrow cells by the KIT D816V mutation. 26153655 2016
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE Systemic mastocytosis associated with t(8;21) acute myeloid leukemia in a child: detection of the D816A mutation of KIT. 22847983 2012
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE Clonal analysis of NRAS activating mutations in KIT-D816V systemic mastocytosis. 21134978 2011
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE ASqPCR for the KIT D816V mutation was a useful adjunct in helping identify those with systemic mastocytosis but not monoclonal mast cell activation syndrome. 28629749 2018
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE A KIT M541L variant in SM was identified in leukemic cells, normal hematopoietic cells, and buccal mucosal cells, suggesting a germline polymorphism. 30044348 2019
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE In summary, our data show that KIT D816V in AML is highly associated with co-existing SM (SM-AML). 20471335 2010
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE Six other patients reported symptomatic improvement, including two with D816V KIT mutation-positive SM (one reported improvement in diarrhea and the other in fatigue).Other patients had no benefit.Imatinib was relatively well tolerated. 19193436 2009
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 Biomarker disease BEFREE Together, KIT-independent signaling via Lyn/Btk contributes to growth of neoplastic MCs in advanced SM. 21680801 2011
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 Biomarker disease BEFREE We exploit these findings to validate a combination treatment strategy targeting the epigenetic deregulation caused by loss of TET2 and the constitutively active KIT receptor for the treatment of patients with aggressive SM. 24788138 2014
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE Evidence for the involvement of a hematopoietic progenitor cell in systemic mastocytosis from single-cell analysis of mutations in the c-kit gene. 12091362 2002
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE Somatic activating mutations in the mast cell growth factor KIT gene cause cutaneous mastocytosis in young children and systemic mastocytosis with a more guarded prognosis in adults who may also harbor other gene mutations with oncogenic potential as they age. 30390314 2019
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE In conclusion, we demonstrate that crenolanib is an inhibitor of mutant-KIT D816 isoforms at clinically achievable concentrations, and thus may be a potential treatment for SM and CBF AML as a monotherapy or in combination approaches. 29137311 2017