![]() ![]() This paper combines the unbiased identification of gene fusions with unsupervised gene expression analyses to identify biologically homogeneous groups of tumours including CIC -rearranged, BCOR -rearranged and EWSR1 – NFATC2 or FUS – NFATC2 sarcomas. Transcriptomic definition of molecular subgroups of small round cell sarcomas. ![]() Robust diagnosis of Ewing sarcoma by immunohistochemical detection of super-enhancer-driven EWSR1-ETS targets. This paper describes for the first time CIC -rearranged sarcomas as distinct entities from other mimics such as Ewing sarcoma.īaldauf, M. Sarcomas with CIC-rearrangements are a distinct pathologic entity with aggressive outcome: a clinicopathologic and molecular study of 115 cases. Array-based DNA-methylation profiling in sarcomas with small blue round cell histology provides valuable diagnostic information. DNA methylation profiling distinguishes Ewing-like sarcoma with EWSR1-NFATc2 fusion from Ewing sarcoma. This paper describes for the first time BCOR – CCNB3 sarcomas as biologically distinct from Ewing sarcoma. A new subtype of bone sarcoma defined by BCOR-CCNB3 gene fusion. The EWS-WT1 gene fusion in desmoplastic small round cell tumor. New fusion sarcomas: histopathology and clinical significance of selected entities. Important recently characterized non-Ewing small round cell tumors. Undifferentiated small round cell sarcomas of bone. ![]() Genes Chromosomes Cancer (2022).ĭickson, B. Ewing sarcoma and related FET family translocation-associated round cell tumors: a century of clinical and scientific progress. The 2020 WHO classification of soft tissue tumours: news and perspectives. Round cell sarcomas beyond Ewing: emerging entities. Emerging studies on the molecular mechanisms of SRCSs and the development of genetically engineered animal models hold promise for improvements in early detection, disease monitoring, treatment-related toxicity, overall survival and quality of life.Īntonescu, C. Besides locoregional treatment that should follow standard protocols for sarcoma management, (neo)adjuvant treatment is as yet ill-defined but generally follows that of Ewing sarcoma and is associated with adverse effects that might compromise quality of life. Histologically, these lesions consist of small round cells expressing variable levels of CD99 and specific marker proteins, including cyclin B3, ETV4, WT1, NKX3-1 and aggrecan, depending on the entity. Additional mutations or copy number variants are rare at diagnosis and, depending on the tumour entity, may involve TP53, CDKN2A and others. These gene fusions mainly encode aberrant oncogenic transcription factors that massively rewire the transcriptome and epigenome of the as yet unknown cell or cells of origin. SRCSs comprise new entities defined by specific genetic abnormalities, namely EWSR1–non- ETS fusions, CIC-rearrangements or BCOR genetic alterations, as well as EWSR1– ETS fusions in the prototypic SRCS Ewing sarcoma. SRCS entities mainly occur in the third decade of life and can exhibit striking disparities regarding preferentially affected sex and tumour localization. Undifferentiated small round cell sarcomas (SRCSs) of bone and soft tissue comprise a heterogeneous group of highly aggressive tumours associated with a poor prognosis, especially in metastatic disease.
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