Endolymphatic sac tumor (ELST) is a rare neoplasm primarily associated with mutations in the VHL gene,which causes von Hippel-Lindau (VHL) disease through hypoxia-inducible factor-dependent pathways. While loss of the VHL gene is necessary for tumorigenesis,it alone is insufficient;additional tumor suppressor genes such as PBRM1,SETD2,BAP1 are also required. Sporadic ELST predominantly exhibited mutations in exon 1,whereas those related to VHL-disease showed more frequent mutations in exon 3. Truncating alterations represent the most common mutation observed in both types of ELST. Research into molecule-targeted therapies mainly focuses on inhibition tumor growth and angiogenesis via vascular endothelial growth factor (VEGF),hypoxia inducible factor (HIF),mTOR and erythropoietin (EPO) pathways. Emerging techniques such as whole genome sequencing and single-cell sequencing will provide further molecular evidence on the pathogenesis and potential treatment strategies for ELST.
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