Rothmund-Thomson综合征责任基因RECQL4与肿瘤关系的研究进展

Research progress on relationship between RECQL4 gene and tumor

Rothmund-Thomson综合征(RTS)是一种少见的常染色体隐性遗传病,有早衰及骨肉瘤、皮肤癌易发倾向等特点,RECQL4基因突变是部分病因。RECQL4蛋白功能复杂多样,其与DNA复制、DNA损伤修复、染色体端粒维持以及基因组稳定性相关。RTS患者RECQL4突变导致其解螺旋酶活性缺失,并出现基因组不稳定,可能是其癌症易发的原因。在其他类型肿瘤如乳腺癌、前列腺癌中,RECQL4则表现为癌基因的特性,其可促进肿瘤的生长、存活、侵袭及转移,RECQL4高表达提示预后不佳。此外,RECQL4还与胃癌化疗耐药相关。RECQL4与肿瘤关系密切,在此作一综述。

Rothmund-Thomson syndrome（RTS） is a rare autosomal recessive genetic disease, characterized as premature aging, osteosarcoma and skin cancer predispositions. The RECQL4 gene mutations cause a subset of RTS cases.The function of RECQL4 is complicated, which involves in DNA replication, DNA damage repair, telomere maintenance and genome stability preservation. RECQL4 mutations in patients with RTS lead to its lack of helicase activity and genome instability, which may be the cause of cancer. However, in other types of tumors such as breast cancer and prostate cancer, RECQL4 function as an oncogene, and it can promote tumor growth, survival, invasion and metastasis,and meanwhile high expression of RECQL4 predicts poor prognosis. In addition, RECQL4 is associated with resistance to chemotherapy for gastric cancer. This is the review illustrating the close relations between RECQL4 and tumors.