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Small round cell sarcomas
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DOI：10.1038/s41572-022-00393-3.png)
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Abstract
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Small round cell sarcomas are a group of aggressive tumours of bone and soft tissue that result from specific genetic alterations and fusions, typically involving EWSR1, BCOR or CIC. This Primer reviews the epidemiology, pathogenesis, diagnosis, and management of these entities and the effects of the tumour and its treatment on quality of life. 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. SRCS entities mainly occur in the third decade of life and can exhibit striking disparities regarding preferentially affected sex and tumour localization. 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. 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. Additional mutations or copy number variants are rare at diagnosis and, depending on the tumour entity, may involve TP53, CDKN2A and others. 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. 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. 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.
Keywords:
INTERNAL TANDEM DUPLICATION
LONG-TERM SURVIVORS
EWING-LIKE SARCOMAS
SOFT-TISSUE
MULTIMODAL TREATMENT
TRANSCRIPTION FACTOR
CLINICAL-FEATURES
FUSION TRANSCRIPT
IMPROVES SURVIVAL
GROWTH-FACTOR
Journal
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IF:
60.6
Papers:
649
Citations:
3.8W
Organization
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