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PTEN/MMACI/TEPI是1997年3月以来发现的第一个具有磷酸酶活性的抑癌基因,具有调节细胞生长、增殖、迁移、信号传导等多种效应。大量研究表明该基因的突变和失活与肿瘤发生及进展关系密切。髓母细胞瘤是发生于儿童最常见的恶性脑肿瘤,迄今对其发生、发展的分子及病理机制所知相当有限,现已知髓母细胞瘤的发生与10号染色体上的基因突变有关。定位于10号染色体上的抑癌基因PTEN在髓母细胞瘤中可发生突变和失活,但发生率不高。
PTEN / MMACI / TEPI is the first tumor suppressor gene with phosphatase activity since March 1997, which has many effects such as regulating cell growth, proliferation, migration and signal transduction. A large number of studies have shown that the mutation and inactivation of the gene are closely related to tumorigenesis and progression. The occurrence of medulloblastoma is the most common malignant brain tumor in children. So far, the molecular and pathological mechanism of its occurrence and development is limited. It is known that the occurrence of medulloblastoma is related to the gene mutation on chromosome 10. PTEN located on chromosome 10 can mutate and inactivate in medulloblastoma, but the incidence is not high.