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 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 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 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 Biomarker disease BEFREE To identify the most promising drug for EMS, the activities and associated mechanism of three tyrosine kinase inhibitors (TKIs), TKI258, ponatinib and AZD4547, against TPR‑FGFR1 were tested by MTT assay, flow cytometry and western blot. 28138694 2017
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 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 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 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 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 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 8p11 myeloproliferative syndrome (EMS), a rare myeloproliferative disease, generally progresses rapidly and is characterized by chromosomal translocations of the fibroblast growth factor receptor 1 (FGFR1) gene. 30116393 2018
Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement
0.100 AlteredExpression disease BEFREE The 8p11 myeloproliferative syndrome (EMS) is an aggressive chronic myeloproliferative disorder (MPD) that is caused by constitutive activation of fibroblast growth factor receptor 1. 25803811 2015
Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement
0.100 GeneticVariation disease BEFREE The 8p11 myeloproliferative syndrome is an aggressive neoplasm associated with chromosomal abnormalities involving rearrangement of the fibroblast growth factor receptor 1 (FGFR1) gene. 25037443 2014
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 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 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 Primary cells in BCR/FGFR1-positive 8p11 myeloproliferative syndrome are sensitive to dovitinib, ponatinib, and dasatinib. 28881484 2017
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 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 GeneticVariation disease BEFREE Of the 2 cases of EMS with t(1;8)(q25;p11.2) which were previously reported, FGFR1 rearrangement was not confirmed in 1 case. 25227135 2015
Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement
0.100 GeneticVariation disease BEFREE It is important to recognize that neoplasms carrying the t(8;22)/BCR-FGFR1, although rare, can commonly with B lymphoblastic leukemia at the initial diagnosis, which could distract one from recognizing a possible underlying 8p11 myeloproliferative syndrome. 28551329 2017
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 Biomarker disease BEFREE In the future, FGFR1 inhibitors might be specific and effective therapeutic targets for EMS. 29614500 2019
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 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