2023
Klotho Overexpression Is Frequently Associated With Upstream Rearrangements in Fusion-Negative Phosphaturic Mesenchymal Tumors of Bone and Sinonasal Tract
Lee J, Hsieh T, Kao Y, Tsai C, Huang H, Shih C, Song H, Oda Y, Chih-Hsueh Chen P, Pan C, Sittampalam K, Petersson F, Konishi E, Chiu W, Chen C, Carpenter T, Lu T, Chang C, Huang S, Folpe A. Klotho Overexpression Is Frequently Associated With Upstream Rearrangements in Fusion-Negative Phosphaturic Mesenchymal Tumors of Bone and Sinonasal Tract. Modern Pathology 2023, 36: 100336. PMID: 37742927, DOI: 10.1016/j.modpat.2023.100336.Peer-Reviewed Original ResearchMeSH KeywordsFibroblast Growth Factor 1HumansIn Situ Hybridization, FluorescenceMesenchymomaParanasal SinusesSoft Tissue NeoplasmsTranslocation, GeneticConceptsPhosphaturic mesenchymal tumorMesenchymal tumorsSinonasal tractFibroblast growth factor 23Growth factor 23Fusion-positive casesBreak-apart fluorescenceSinonasal locationFISH-positive casesFinal cohortFactor 23Situ hybridizationUncommon neoplasmLarge cohortKlotho overexpressionFGFR1 inhibitionTumorsKL expressionCohortSoft tissueWhole genomic sequencingPromoter methylationConcordant resultsPatientsFurther investigation
2016
Characterization of FN1–FGFR1 and novel FN1–FGF1 fusion genes in a large series of phosphaturic mesenchymal tumors
Lee JC, Su SY, Changou CA, Yang RS, Tsai KS, Collins MT, Orwoll ES, Lin CY, Chen SH, Shih SR, Lee CH, Oda Y, Billings SD, Li CF, Nielsen GP, Konishi E, Petersson F, Carpenter TO, Sittampalam K, Huang HY, Folpe AL. Characterization of FN1–FGFR1 and novel FN1–FGF1 fusion genes in a large series of phosphaturic mesenchymal tumors. Modern Pathology 2016, 29: 1335-1346. PMID: 27443518, DOI: 10.1038/modpathol.2016.137.Peer-Reviewed Original ResearchConceptsPhosphaturic mesenchymal tumorFN1-FGFR1 fusionMesenchymal tumorsGiant cell tumorFusion geneSolitary fibrous tumorPotential morphologic mimicsFN1-FGFR1Cell tumorsOverall prevalenceFGF23 secretionFibrous tumorFusion statusMorphologic mimicsLarge seriesAutocrine loopAdditional casesTumorsWestern blotPrior studiesFurther studiesSitu hybridization analysisDirect sequencingFusion typeImmunohistochemistry