title: Clinical variability of patients with the t(6;8)(q27;p12) and FGFR1OP-FGFR1 fusion: two further cases.
abstract: We report two new cases with the t(6;8)(q27;p12) and FGFR1OP-FGFR1 fusion. Case 1 presented with polycythaemia vera (PV) and evolved over 4 years to a myeloproliferative disorder (MPD) resembling the 8p11 myeloproliferative syndrome (EMS). Case 2 presented with B-cell lymphoblastic leukaemia (B-ALL). These cases illustrate the clinical heterogeneity observed in patients with FGFR1 rearrangements and suggest that constitutively activated tyrosine kinases may be more widespread in MPDs.
authors.affiliation: Department of Genetics, School of Science, University of Navarra, Pamplona, Spain. jlvizmanos@unav.es
authors.forename: José L
authors.initials: JL
authors.lastname: Vizmanos
authors.forename: Roberto
authors.initials: R
authors.lastname: Hernández
authors.forename: María J
authors.initials: MJ
authors.lastname: Vidal
authors.forename: María J
authors.initials: MJ
authors.lastname: Larráyoz
authors.forename: María D
authors.initials: MD
authors.lastname: Odero
authors.forename: Julián
authors.initials: J
authors.lastname: Marín
authors.forename: María T
authors.initials: MT
authors.lastname: Ardanaz
authors.forename: María J
authors.initials: MJ
authors.lastname: Calasanz
authors.forename: Nicholas C P
authors.initials: NC
authors.lastname: Cross
mesh_terms: D000328:Adult; D000368:Aged; D000704:Analysis of Variance; D002051:Burkitt Lymphoma / Q000097:blood / Q000235:genetics* / Q000628:therapy; D002896:Chromosomes, Human, Pair 6; D002898:Chromosomes, Human, Pair 8; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007930:Leucine / Q000235:genetics; D008297:Male; D009196:Myeloproliferative Disorders / Q000097:blood / Q000235:genetics* / Q000628:therapy; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D011087:Polycythemia Vera / Q000097:blood / Q000235:genetics* / Q000628:therapy; D011518:Proto-Oncogene Proteins; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics; D051496:Receptor, Fibroblast Growth Factor, Type 1; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics; D014178:Translocation, Genetic / Q000235:genetics*
chemical_list: C117597:CEP43 protein, human; D015514:Oncogene Proteins, Fusion; D011518:Proto-Oncogene Proteins; D017468:Receptors, Fibroblast Growth Factor; C496348:FGFR1 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051496:Receptor, Fibroblast Growth Factor, Type 1; D007930:Leucine