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 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
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE Gain-of-function mutations of KIT cause systemic mastocytosis, which is characterized by abnormal accumulations of mast cells. 27664314 2017
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE Prospective evaluation of the diagnostic value of sensitive KIT D816V mutation analysis of blood in adults with suspected systemic mastocytosis. 28432683 2017
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 Biomarker disease BEFREE Our data suggest that targeting both KIT and TRKs might improve efficacy of molecular therapy in SM with KIT mutations. 29088753 2017
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE Regardless of the SM variant, expansion of neoplastic MC in the skin and other organs is triggered by mutant forms of KIT, the most prevalent being D816V. 28945834 2017
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE A variant c-KIT mutation, D816H, fundamental to the sequential development of an ovarian mixed germ cell tumor and systemic mastocytosis with chronic myelomonocytic leukemia. 27781377 2017
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE In conclusion, KIT D816V mutation sensitized MC to HDACi mediated killing, and SAHA may be of value as specific treatment for SM, although the specific mechanism of action requires further investigation. 28038453 2017
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 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 However, the impact of KIT mutations on the redox status in SM and the potential therapeutic implications are not well understood. 27611333 2016
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 Biomarker disease BEFREE A new humanized in vivo model of KIT D816V+ advanced systemic mastocytosis monitored using a secreted luciferase. 27783996 2016
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE In 87 patients, 148 non-KIT mutations were detected; the most frequently mutated genes were TET2 (29%), ASXL1 (17%), and CBL (11%), with significantly higher mutation frequency in SM-AHN > ASM > ISM (P < 0.0001). 27214377 2016
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 Biomarker disease BEFREE However, the effect of TKI on c-KIT-driven leukemia, including CBF-AML and systemic mastocytosis (SM), has not been satisfactory. 27512117 2016
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 Biomarker disease BEFREE In conclusion, the presence and number of mutated genes within the S/A/R panel are adversely associated with advanced disease and poor survival in KIT D816V(+) SM. 26464169 2016
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE Bone marrow (BM) histology/immunohistochemistry, KIT D816V mutation analysis and serum tryptase measurements are mandatory tools for diagnosis of systemic mastocytosis (SM). 26914980 2016
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 Biomarker disease BEFREE To gain better insight into clinical characteristics, we compared these cases with 31 additional and well-characterized KIT D816V+ eosinophilia-associated systemic mastocytosis (SM-eo) patients enrolled within the "German Registry on Disorders of Eosinophils and Mast cells." 26017288 2015
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE These results suggest that both methods provide clinically useful and complementary information through the identification and/or quantification of the KIT D816V mutation in peripheral blood of patients suspected of systemic mastocytosis. 26067933 2015
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE We identified 26 BM cases of KIT D816V-mutated, morphologically occult SM in the BM. 26276780 2015
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE Molecular profiling of myeloid progenitor cells in multi-mutated advanced systemic mastocytosis identifies KIT D816V as a distinct and late event. 25567135 2015
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 Biomarker disease BEFREE In the last few years, it has been discovered that additional mutations in other genes belonging to the methylation system, the splicing machinery and cell signaling, contribute, with c-KIT, to SM pathogenesis and/or phenotype. 26562302 2015
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 Biomarker disease BEFREE The activating KIT marker plays a central role in the pathogenesis, diagnosis, and targeted treatment of systemic mastocytosis (SM). 25315185 2015
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE Using highly sensitive assays, KIT D816V can be detected in peripheral blood leukocytes from most patients with systemic mastocytosis (SM) that is a major step forward in screening and SM diagnosis. 25650093 2015
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE Patients with Systemic Mastocytosis (SM) need a highly sensitive diagnostic test for D816V detection of the KIT receptor gene. 25582384 2015
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 We herein report a case of familial systemic mastocytosis with the rare KIT K509I germ line mutation affecting two family members: mother and daughter. 25139846 2014