Alternative lengthening of telomeres phenotype and loss of ATRX expression in sarcomas (Review)

被引:23
|
作者
Ren, Xiaolei [1 ]
Tu, Chao [1 ]
Tang, Zhenchu [1 ]
Ma, Ruofei [2 ]
Li, Zhihong [1 ]
机构
[1] Cent S Univ, Xiangya Hosp 2, Dept Orthopaed, 139 Middle Renmin Rd, Changsha 410011, Hunan, Peoples R China
[2] Beijing Jishuitan Hosp, Dept Orthopaed, Beijing 100035, Peoples R China
基金
中国国家自然科学基金;
关键词
alternative lengthening of telomeres; sarcoma; alpha-thalassemia/mental retardation syndrome X-linked gene; SOFT-TISSUE; MUTATIONS; RETARDATION; MECHANISMS; DIAGNOSIS; SPECTRUM; TUMORS; CELLS; IDH1;
D O I
10.3892/ol.2018.8318
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
Sarcoma is a rare and heterogeneous type of cancer with an early mean onset age and a poor prognosis. However, its genetic basis remains unclear. A series of recent genomic studies in sarcomas have identified the occurrence of mutations in the alpha-thalassemia/mental retardation syndrome X-linked (ATRX) gene. The ATRX protein belongs to the SWI/SNF family of chromatin remodeling proteins, which are frequently associated with alpha-thalassemia syndrome. Cancer cells depend on telomerase or the alternative lengthening of telomeres (ALT) pathway to overcome replicative programmed mortality. Loss of ATRX is associated with ALT in sarcoma. In the present review, recent whole genome and/or whole exome genomic studies are summarized. In addition ATRX immunohistochemistry and ALT fluorescence in situ hybridization in sarcomas of various subtypes and at diverse sites, including osteosarcoma, leiomyosarcoma, liposarcoma, angiosarcoma and chondrosarcoma are evaluated. The present review involves certain studies associated with the molecular mechanisms underlying the loss of ATRX controlling the activation of ALT in sarcomas. Identification of the loss of ATRX and ALT in sarcomas may provide novel methods for the treatment of aggressive sarcomas.
引用
收藏
页码:7489 / 7496
页数:8
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