EGAGenomicsEpigeneticshttps://ega-archive.org/studies/EGAS00001007042EGAEGA study EGAS00001007042Set_of_human_mesenchymal_CSAEGArestrictedHuman, Classifications, Taxonomies, hierarchies, Taxonomy, hierarchy, human being, Man (Taxonomy), Homo sapiens, taxonomy, systematics, Modern Man, Modern, Mesenchymal, Mesenchymal Chondrosarcomas, Systematics, Mesenchymal Chondrosarcoma, methylation, Chondrosarcomas, mesenchymal chondrosarcoma., Methylations, Man, humanIPP2A2, Antemortem Diagnosis, RNA Sequence Determination, with congenital contractures and muscle atrophy, Sequence Determination, RNA Sequence, mental retardation, HMCS, Diagnosis, 5730420M11Rik, dmTAF[[II]]230, Donor Artificial Insemination, hMCS, interorganelle junction, CDA2, symptoms, cytopathology, Analysis, BHLHb31, rounded, Donor Artificial, contractures of feet, SET, TFIID TAF250, Biopsies, Analyses, TAF-I, MCSL, cel, Determination, ZC4H2-Associated Rare Disorders (ZARD), KAT13C, MCSP, Structures, Sequence Determinations, Miles-Carpenter type, DmelCG4299, allergic reaction, IGAAD, set, D1Ertd433e, oculomotor, Cellular Structure, DmelCG10574, INSDC_feature:misc_RNA., muscle atrophy, Diagnose, phapii, screening, with congenital contractures and low fingertip arches, dTAF[[II]]230, TAF200, StF-IT-1, syndromic 4, hHRT1, AI414254, TAFII-250, TAF250/230, Diagnoses, Determinations, AI316788, TAFII250, Postmortem, Screenings, Molybdenum cofactor sulfurtransferase, Examinations and Diagnoses, Heterologous Insemination, Cellular, MRXS4, Postmortem Diagnosis, Wieacker-Wolff syndrome, Diagnoses and Examination, WRWF, Postmortem Diagnoses, HRT1, HLA-DR-associated protein II, histopathology, SRC2, DI-2, I-2Dm, signs, CG4299, CG17603, TAF[[II]], Component, SRC-2, I-2PP1, Grip1, Artificial Insemination, Cell Component, TAF-IBETA, Taf250, BHLHE75, X-linked intellectual disability, 2.8.1.9, SR3-5, MOS, NCoA-2, TAF-Ibeta, foot contractures-muscle atrophy-oculomotor apraxia syndrome, i2pp2a, apraxia, TAF230, d230, X-linked, Components, number, GRIP1, dTAFII250, HSMCSGEN1, EfW1, presence, AID, Aid, PHAPII, X-linked recessive, Wieacker Wolff syndrome, dmTAF1, Taf230, sensitive, Mass, Screening, intellectual disability-developmental delay-contractures syndrome, Antemortem, sensitivity, aid, TAF250, Insemination, Taf200, dTAF[[II]]250, cell, ipp2a2, Herp2, Hesr1, 2pp2a, Taf1p, Diagnoses and Examinations, Structure, CG10574, inter-organelle junction, Sequencing, dTAF250, 2PP2A, RNA Sequence Analyses, taf-ibeta, HEL-S-284, dSET, dSet, RNA Sequencing, HIGM2, and oculomotor apraxia, Cell Components, Wieacker syndrome, TAF, with congenital contractures and Low fingertip arches, MCS, Heterologous, Sequence Analyses, HERP2, Antemortem Diagnoses, HESR1, RNA, TAF[[II]]250, findings, RNA Sequence Determinations, bHLHb31, igaad, l(3)84Ab, BG:DS00004.13, Cell, Examination and Diagnoses, group, dTAF230, Human Donor, WRWFXLR, count in organism, I-2PP2A, Mass Screenings, p230, Dm I-2, I2PP2A, TAF[[II]]250/230, TFIID, HRT-1, Donor, Miles-CARPENTER X-linked mental retardation syndrome, GRIP-1, Artificial, Taf[[II]]250, TIF2, Tif2, TAF[[II]]230, ensemble, Arp2, ARP2, CHF2, MoCo sulfurase, TAF[II]250, OAF1, Miles-Carpenter syndrome, dSET/TAF-Ibeta, 2610030F17Rik, DmelCG17603, RNA Sequence Analysis, cardinality, bHLHe75, round, biopsy, AA407739, hesr-1, TAF1falseMethylation-based classification of human mesenchymal chondrosarcomaWe applied methylome and copy number profiling to a set of 45 well characterized MCS cases to evaluate their potential diagnostic value. Notably, the findings were reproducible also when analysing the round cell and cartilaginous component separately. Furthermore, four outliers were identified by methylome profiling for which the diagnosis had to be revised. Methylome profiling represents a sensitive, specific and reliable tool to support the diagnosis of MCS, particularly if only the round cell component is obtained in a biopsy and the diagnosis is not suspected. It can furthermore aid in confirming the diagnosis in case RNA sequencing for the HEY1::NCOA2 fusion transcript is not available.2023-06-06 11:28:31EGAS000010070429606EGAD00010002515EGAC00001003217