Alternative lengthening of telomeres phenotype in malignant vascular tumors is highly associated with loss of ATRX expression and is frequently observed in hepatic angiosarcomas

摘要: Alternative lengthening of telomeres (ALT) is a mechanism using homologous recombination to maintain telomere length and sustain limitless replicability cancer cells. Recently, ALT has been found be associated with inactivation either α-thalassemia/mental retardation syndrome X-linked (ATRX) or death domain-associated (DAXX) protein. In this study, 119 tumors (88 angiosarcomas, 11 epithelioid hemangioendotheliomas, 20 Kaposi sarcomas) were analyzed determine the status, its relationship loss ATRX/DAXX expression, clinicopathological features. addition, mutation status in telomerase reverse transcriptase gene (TERT) promoter was also studied. Loss ATRX expression observed 21% (16/77) primary angiosarcomas 9% (1/11) hemangioendotheliomas. DAXX intact all but 2 ATRX-deficient angiosarcomas. Telomere-specific fluorescence situ hybridization assay showed 28% (17/61) positive. Remarkably, highly expression: ALT-positive deficient. Notably, hepatic frequently deficient (8/13) and/or positive (8/12). None secondary The only hemangioendothelioma for ALT. Forty-seven tested TERT mutation. Despite fact that angiosarcoma occurs most commonly sun-damaged skin, detected 1 radiation-associated (2%). We conclude an important maintenance This feature