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 ResearchConceptsPhosphaturic 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
2000
Phosphaturic Mesenchymal Tumor-Induced Rickets
Reyes-Múgica M, Arnsmeier S, Backeljauw P, Persing J, Ellis B, Carpenter T. Phosphaturic Mesenchymal Tumor-Induced Rickets. Pediatric And Developmental Pathology 2000, 3: 61-69. PMID: 10594133, DOI: 10.1007/s100249910008.Peer-Reviewed Original ResearchConceptsPhosphaturic mesenchymal tumorYears of ageMesenchymal tumorsComputerized tomographyMixed connective tissue variantConnective tissue variantLower extremity painPoor linear growthRight proximal tibiaSpindle cell neoplasmFibroma-like variantLeft mandibular ramusBone painOncogenic ricketsRachitic abnormalitiesLytic lesionsRadiographic evidenceSecond patientFirst patientMuscle weaknessOccult tumorsPatient 1Prominent vascularityChondroid materialFibroblast-like cells