FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 816; N. variants: 119
Disease: CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150773
Disease: CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME
CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME 		0.400 AlteredExpression disease BEFREE RAC1/2 activation promotes FGFR1 driven leukemogenesis in stem cell leukemia/lymphoma syndrome. 31221776 2020
CUI: C3150773
Disease: CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME
CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME 		0.400 GeneticVariation disease BEFREE Transformation of hematopoietic stem cells by the BCR-FGFR1 fusion kinase found in a variant of stem cell leukemia/lymphoma (SCLL) syndrome leads to development of B-lymphomas in syngeneic mice and humans. 30413411 2019
CUI: C3150773
Disease: CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME
CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME 		0.400 Biomarker disease BEFREE Distinct signaling programs associated with progression of FGFR1 driven leukemia in a mouse model of stem cell leukemia lymphoma syndrome. 30439482 2019
CUI: C3150773
Disease: CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME
CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME 		0.400 Biomarker disease BEFREE We propose that inclusion of mebendazole in a combination therapy with FGFR1 inhibitors may be a valuable option to manage SCLL. 31628193 2019
CUI: C3150773
Disease: CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME
CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME 		0.400 AlteredExpression disease BEFREE These phenotypes are related to the stem cell leukemia/lymphoma syndrome (SCLL), which arises through the effects of the activated FGFR1 kinase on gene transcription, which includes miRNA dysregulation. 29735550 2018
CUI: C3150773
Disease: CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME
CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME 		0.400 Biomarker disease BEFREE Targeting MYC function using shRNA knockdown and 10054-F8 in SCLL cells leads to inhibition of cell proliferation and synergizes with the BGJ398 FGFR1 inhibitor, suggesting a combination therapy that could be used in the treatment of SCLL. 29720732 2018
CUI: C3150773
Disease: CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME
CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME 		0.400 AlteredExpression disease BEFREE Stem cell leukemia/lymphoma syndrome (SCLL) is driven by constitutive activation of chimeric FGFR1 kinases generated by chromosome translocations. 28646488 2017
CUI: C3150773
Disease: CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME
CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME 		0.400 Biomarker disease BEFREE Overall, our data provide convincing evidence to suggest that pharmacologic inhibition of FGFR1 fusion kinases with ponatinib is likely to be beneficial for patients with SCLL and perhaps for other human disorders associated with dysregulated FGFR1 activity. 22781593 2013
CUI: C3150773
Disease: CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME
CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME 		0.400 FusionGene disease ORPHANET Myeloid neoplasms associated with eosinophilia and rearrangement of PDGFRA, PDGFRB, and FGFR1: a review. 23489324 2013
CUI: C3150773
Disease: CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME
CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME 		0.400 AlteredExpression disease BEFREE The Src kinase inhibitor dasatinib killed transformed BaF3 cells and other established murine leukemia cell lines expressing chimeric FGFR1 kinases, significantly extending the survival of mice with SCLL syndrome. 21937681 2011
CUI: C3150773
Disease: CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME
CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME 		0.400 Biomarker disease BEFREE The ZMYM2-FGFR1 (formerly known as ZNF198-FGFR1) fusion kinase induces stem cell leukemia-lymphoma syndrome (SCLL), a hematologic malignancy characterized by rapid transformation to acute myeloid leukemia and T-lymphoblastic lymphoma. 21527531 2011
CUI: C3150773
Disease: CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME
CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME 		0.400 Biomarker disease BEFREE We conclude that neither the SCLL phenotype nor blood eosinophilia is a consistent feature of FGFR1-associated 8p11.2 translocations; conversely, FISH might not always reveal FGFR1 involvement in typical SCLL. 20143402 2010
CUI: C3150773
Disease: CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME
CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME 		0.400 Biomarker 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: C3150773
Disease: CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME
CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME 		0.400 GeneticVariation disease BEFREE It has now become evident that most CMD represent clonal stem cell processes where the primary oncogenic event has been characterized in certain instances; Bcr/Abl in chronic myeloid leukemia, FIP1L1-PDGFRA or c-kit(D816V) in systemic mastocytosis, rearrangements of PDGFRB in chronic eosinophilic leukemia, and rearrangements of FGFR1 in stem cell leukemia/lymphoma syndrome. 16781478 2006
CUI: C3150773
Disease: CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME
CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME 		0.400 GeneticVariation disease BEFREE The 8p11 myeloproliferative syndrome (EMS) also known as stem cell leukemia-lymphoma syndrome (SCLL) is associated with translocations that disrupt FGFR1. 15800673 2005
CUI: C3150773
Disease: CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME
CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME 		0.400 Biomarker disease BEFREE Disruption of FGFR1 is associated with a disease entity known as the 8p11 myeloproliferative syndrome (EMS)/stem cell leukemia-lymphoma syndrome, a chronic myeloproliferative disorder that frequently presents with eosinophilia and associated T-cell lymphoblastic lymphoma. 11919391 2002
CUI: C3150773
Disease: CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME
CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME 		0.400 Biomarker disease BEFREE ZNF198, mapping to 13q11-q12, was recently shown to fuse to the fibroblast growth factor receptor 1 gene in the t(8;13)(p11;q11-q12) rearrangement associated with a stem cell leukemia/lymphoma syndrome. 10486218 1999