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
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