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 		0.100 GeneticVariation disease BEFREE DCC-2618 is a spectrum-selective pan KIT and PDGFRA inhibitor which blocks KIT D816V and multiple other kinase targets relevant to systemic mastocytosis. 29439183 2018
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.100 Biomarker disease BEFREE Therapy of SM and FIP1L1-PDGFRA-positive disease and the prognostic relevance of increased peripheral blood and tissue mast cells in hematolymphoid malignancies will also be addressed. 22449623 2012
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.100 GeneticVariation disease BEFREE Imatinib is effective in patients with increased mast cells and eosinophils associated with FIP1L1/PDGFRA+ (e.g., myeloid neoplasm with eosinophilia and rearrangement of PDGFRA) or rare patients with SM associated with KIT mutations outside of exon 17. 21641642 2011
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.100 Biomarker disease BEFREE Current findings of FIP1L1/PDGFR alpha-positive HES/CEL are reviewed focusing on aberrant mast cell development leading to SM. 20523072 2010
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.100 Biomarker disease BEFREE In FIP1L1/PDGFRA-positive chronic eosinophilic leukaemia (CEL), neither the SM nor the CEL component of the disease exhibited the KIT mutation. 20112369 2010
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.100 Biomarker disease BEFREE We used high-throughput DNA sequence analysis to screen for TET2 mutations in bone marrow-derived DNA from 48 patients with systemic mastocytosis (SM), including 42 who met the 2008 WHO (World Health Organization) diagnostic criteria for SM and 6 with FIP1L1-PDGFRA. 19262599 2009
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.100 AlteredExpression disease BEFREE Other mutations of putative pathogenetic relevance in MPDs include: JAK2V617F in PV, ET, and PMF; JAK2 exon 12 mutations in PV; MPLW515L/K in PMF and ET; KITD816V in SM; FIP1L1-PDGFRA in CEL-SM; rearrangements of PDGFRB in CEL-CMML and FGFR1 in stem cell leukemia-lymphoma syndrome; and RAS/PTPN11/NF1 mutations in JMML. 17351342 2007
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.100 Biomarker disease BEFREE This system correctly classified 16 of 17 FIP1L1/PDGFRA-positive patients with CEL and all 12 patients with systemic mastocytosis with eosinophilia. 17628645 2007
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.100 Biomarker disease BEFREE Most notable among these is the recent discovery of the cryptic FIP1L1-PDGFRA gene fusion in karyotypically normal patients with systemic mast cell disease with eosinophilia or idiopathic HES, redefining these diseases as clonal eosinophilias. 16781488 2006
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.100 Biomarker disease BEFREE Discovery of the cryptic FIP1L1-PDGFRA gene fusion in cytogenetically normal patients with systemic mast cell disease with eosinophilia or idiopathic HES has redefined these diseases as clonal eosinophilias. 15995322 2005
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.100 Biomarker disease BEFREE Examples include the use of STI571 in patients with SM plus hypereosinophilic syndrome (SM-HES) and the FIPL1/PDGFRA fusion gene target, or chemotherapy for eradication of AML in patients with SM-AML. 15621779 2005
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.100 GeneticVariation disease BEFREE A pathogenetic mutation, FIP1L1-PDGFRA, that results from an interstitial chromosome 4q12 deletion, leads to a constitutive activation of the platelet-derived growth factor receptor-alpha (PDGFRA) tyrosine kinase as well as a disease phenotype that mimics both the hypereosinophilic syndrome (HES) and systemic mast cell disease associated with eosinophilia (SMCD-eos). 15036941 2004
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.100 GeneticVariation disease LHGDN FIP1L1-PDGFRA fusion: prevalence and clinicopathologic correlates in 89 consecutive patients with moderate to severe eosinophilia. 15284118 2004
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.100 GeneticVariation disease BEFREE FIP1L1-PDGFRA is a relatively infrequent but treatment-relevant mutation in primary eosinophilia that is indicative of an underlying systemic mastocytosis. 15284118 2004
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.100 GeneticVariation disease BEFREE FIP1L1-PDGFRA and c-kit D816V mutation-based clonality studies in systemic mast cell disease associated with eosinophilia. 15257945 2004
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.100 GeneticVariation disease BEFREE In addition, the FIP1L1-PDGFRA fusion gene was also identified in cases with systemic mast cell disease. 14676627 2004