Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement
0.100 GeneticVariation disease BEFREE The t(8;13)(p11;q12) is the most common translocation associated with the 8p11 myeloproliferative syndrome and results in an identical mRNA fusion between ZNF198 at 13q12 and FGFR1 at 8p11 in all cases thus far reported. 9889006 1999
Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement
0.100 GeneticVariation disease BEFREE The ZNF198- FGFR1 fusion gene arises as a result of the t(8;13)(p11;q12) in the 8p11 myeloproliferative syndrome. 10935490 1999
Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement
0.100 Biomarker disease BEFREE Finally, translocations associated with the rare 8p11 myeloproliferative syndrome and other atypical myeloproliferative disorders have permitted the identification of a number of novel fusion proteins involving fibroblast growth factor receptor-1. 11640868 2001
Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement
0.100 GeneticVariation disease BEFREE We conclude that 1) all mRNA fusions in EMS result in splicing to FGFR1 exon 9 but breakpoints in FOP are variable, 2) two-color FISH can identify patients with EMS, and 3) the t(8;17)(p11;q25), t(8;11)(p11;p15), t(8;12)(p11;q15), and ins(12;8)(p11;p11p21) are novel karyotypic changes that most likely involve FGFR1. 11550283 2001
Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement
0.100 GeneticVariation disease BEFREE To date, four gene fusions associated with distinct translocations have been described in EMS: the t(8;13)(p11;q12), t(8;9)(p11;q33), t(6;8)(q27;p11) and t(8;22)(p11q22) fuse ZNF198, CEP110, FOP and BCR, respectively, to FGFR1. 11919391 2002
Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement
0.100 Biomarker disease BEFREE These data further support the central role of deregulated FGFR1 in the pathogenesis of EMS. 15034873 2004
Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement
0.100 Biomarker disease BEFREE We demonstrate that ZNF198-FGFR1 induces EMS-like disease in mice, with myeloproliferation and T lymphoma arising from common multipotential progenitors. 15050920 2004
Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement
0.100 Biomarker disease BEFREE Thus, our data extend the involvement of FGFR1 in EMS and lend support to the concept that there is a precise correlation between genotype and phenotype in this disease. 15609342 2005
Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement
0.100 GeneticVariation disease BEFREE The t(8;17)(p11;q23) in the 8p11 myeloproliferative syndrome fuses MYO18A to FGFR1. 15800673 2005
Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement
0.100 GeneticVariation disease BEFREE A biphenotypic transformation of 8p11 myeloproliferative syndrome with CEP1/FGFR1 fusion gene. 16879608 2006
Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement
0.100 GeneticVariation disease BEFREE The 8p11 myeloproliferative syndrome (EMS) is associated with translocations that disrupt the FGFR1 gene. 16946300 2006
Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement
0.100 Biomarker disease BEFREE Activity of TKI258 against primary cells and cell lines with FGFR1 fusion genes associated with the 8p11 myeloproliferative syndrome. 17698633 2007
Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement
0.100 GeneticVariation disease BEFREE In the present study, we have investigated a case of EMS harboring a t(8;22)(p11;q11)/BCR-FGFR1 rearrangement as well as a t(9;21)(q34;q22) at the time of AML transformation. 17394134 2007
Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement
0.100 GeneticVariation disease BEFREE We report a rare case of t(8;9)(p11;q33) in a patient with 8p11 myeloproliferative syndrome (EMS) that was preceded by centrosomal protein 110kDa (CEP110; previously CEP1)/fibroblast growth factor receptor 1 (FGFR1) fusion transcript. 18295660 2008
Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement
0.100 GeneticVariation disease BEFREE The 8p11 myeloproliferative syndrome is a rare hematologic malignancy derived from a pluripotent hematopoietic stem cell associated with rearrangements involving the fibroblast growth factor receptor 1 (FGFR1) gene located on chromosome 8p11. 19829149 2009
Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement
0.100 Biomarker disease BEFREE In immunodeficient mice, expression of ZMYM2/FGFR1 or BCR/FGFR1 in human cells induces several features of human EMS, including expansion of several myeloid cell lineages and accumulation of blasts in bone marrow. 20554971 2010
Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement
0.100 Biomarker disease BEFREE In the current World Health Organization classification, the 8p11 myeloproliferative syndrome is designated as "myeloid and lymphoid neoplasms with FGFR1 abnormalities." 20226962 2010
Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement
0.100 GeneticVariation disease BEFREE In summary, we identified a novel CUX1-FGFR1 fusion oncogene in a patient with the 8p11 myeloproliferative syndrome and demonstrated its transforming potential in the Ba/F3 cell line. 21330321 2011
Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement
0.100 Biomarker disease BEFREE In the future, FGFR1 inhibitor might be the specific and effective therapeutic target for EMS. 21214407 2011
Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement
0.100 GeneticVariation disease BEFREE Favorable outcome of allogeneic hematopoietic cell transplantation for 8p11 myeloproliferative syndrome associated with BCR-FGFR1 gene fusion. 22106025 2012
Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement
0.100 Biomarker disease BEFREE Our results further support a critical role of FGFR1 in the pathogenesis of EMS and may lead to more accurate diagnosis and potential targeted therapy. 22619110 2012
Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement
0.100 Biomarker disease BEFREE Ponatinib as targeted therapy for FGFR1 fusions associated with the 8p11 myeloproliferative syndrome. 22875613 2013
Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement
0.100 GeneticVariation disease BEFREE A case of 8p11 myeloproliferative syndrome with BCR-FGFR1 gene fusion presenting with trilineage acute leukemia/lymphoma, successfully treated by cord blood transplantation. 23171834 2013
Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement
0.100 GeneticVariation disease BEFREE The 8p11 myeloproliferative syndrome is a rare atypical disorder defined by the presence of rearrangements between the fibroblast growth factor receptor 1 (FGFR1) and 1 of 13 partner genes described to date, including the BCR gene on chromosome 22. 23519513 2013
Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement
0.100 Biomarker disease BEFREE Chromosomal translocation of FGFR1 occurs in the 8p11 myeloproliferative syndrome and alveolar rhabdomyosarcoma, as with FGFR3 in multiple myeloma and peripheral T-cell lymphoma. 23696246 2014