Guan Wei, Jing Yu, Yu Li
Department of Hematology, General Hospital of Chinese PLA, Beijing 100853, China.
Department of Hematology, General Hospital of Chinese PLA, Beijing 100853, China.E-mail:
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2017 Apr;25(2):587-591. doi: 10.7534/j.issn.1009-2137.2017.02.050.
T lymphoblastic lymphoma / leukemia is a strong invasive and has a high incidence of various molecular genetic abnormalities. The NOTCH1 / FBXW7 mutation is one of the most common mutations, and related with good prognosis in T-LBL / ALL. PTEN mutation, a poor prognostic factor, could be overcome by NOTCH1 mutations in pediatric patients to some extent. Patients with MLL gene abnormality and loss of heterozygosity 6q have worse prognosis than those with normal karyotype. The incidence of MLL gene abnormality, RUNX1 mutation and DNMT3A mutation in early precursor T-lymphoblastic leukemia was higher than that of other mature subtypes, which could be used as risk stratification factors. Epigenetic abnormalities play an important role in the malignant transformation of stem cells. Epigenetics treatment such as demethylation therapy may improve the prognosis of high-risk patients. In this article, the NOTCH1,FBXW7,PTEN and RAS gene mutations and prognosis, the molecular and cellular abnormalities and prognosis, as well as epigenetic abnormality and prognosis are reviewed.
T淋巴细胞母细胞淋巴瘤/白血病具有很强的侵袭性，且各种分子遗传异常的发生率很高。NOTCH1/FBXW7突变是最常见的突变之一，与T-LBL/ALL的良好预后相关。PTEN突变是一个不良预后因素，在儿科患者中，NOTCH1突变在一定程度上可克服PTEN突变。MLL基因异常和6号染色体长臂杂合性缺失的患者比核型正常的患者预后更差。早期前体T淋巴细胞母细胞白血病中MLL基因异常、RUNX1突变和DNMT3A突变的发生率高于其他成熟亚型，这些可作为风险分层因素。表观遗传异常在干细胞的恶性转化中起重要作用。去甲基化治疗等表观遗传学治疗可能改善高危患者的预后。本文综述了NOTCH1、FBXW7、PTEN和RAS基因突变与预后、分子和细胞异常与预后以及表观遗传异常与预后。
