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Alternative lengthening of telomeres and loss of ATRX are frequent events in pleomorphic and dedifferentiated liposarcomas.

端粒延长替代和ATRX丢失是多形性和去分化脂肪肉瘤中的常见事件

Lee JC,Jeng YM,Liau JY,Tsai JH,Hsu HH,Yang CY

Abstract

Telomerase activation and alternative lengthening of telomeres are two major mechanisms of telomere length maintenance. Soft tissue sarcomas appear to use the alternative lengthening of telomeres more frequently. Loss of α-thalassemia/mental retardation syndrome X-linked (ATRX) or death domain-associated protein 6 (DAXX) expression has been implicated in the pathogenesis of alternative telomere lengthening in pancreatic endocrine neoplasm and glioma. The mechanism leading to the alternative lengthening of telomeres in liposarcoma remains unknown. Whereas alternative telomere lengthening was determined to be an indicator of poor prognosis in liposarcomas as a whole, its prognostic power has not been verified in any subtype of liposarcoma. In this study, we characterized the status of alternative telomere lengthening and expression of ATRX and DAXX in 111 liposarcomas (28 well-differentiated, 52 dedifferentiated, 20 myxoid or round cell, and 11 pleomorphic liposarcomas) by telomere fluorescence in situ hybridization and immunohistochemistry, respectively. Alternative lengthening of telomere was observed in 0% (0/16) of well-differentiated, 30% (14/46) of dedifferentiated, 5% (1/19) of myxoid or round cell, and 80% (8/10) of pleomorphic liposarcomas. Eighteen (16%) and one (1%) tumors were negative for ATRX and DAXX immunostaining, respectively. Remarkably, all cases with loss of either ATRX or DAXX expression had alternative lengthening of telomeres, and 83% (19/23) of tumors that had alternative lengthening of telomeres showed loss of either protein. The correlation between loss of either ATRX or DAXX and alternative telomere lengthening was 100% in dedifferentiated liposarcoma. The presence of alternative telomere lengthening in dedifferentiated liposarcoma suggested poor overall survival (hazard ratio=1.954, P=0.077) and was the most significant indicator of short progression-free survival (hazard ratio=3.119, P=0.003). In conclusion, we found that ATRX loss was the most likely mechanism of alternative telomere lengthening in liposarcoma and alternative telomere lengthening was a prognostic factor of poor outcome in dedifferentiated liposarcoma.

摘要

端粒酶激活和端粒延长替代是维持端粒长度的两大主要机制。软组织肉瘤似乎应用端粒延长替代机制更多。胰腺内分泌肿瘤和胶质瘤中ATRX(α-地中海贫血/X连锁智力低下综合征)丢失或DAXX(死亡结构域相关蛋白6)表达与端粒延长替代的发生有关。导致脂肪肉瘤中端粒延长替代发生的机制目前仍不清楚。但是,总体上端粒延长替代是决定脂肪肉瘤预后差的一个指标。本研究中我们用端粒荧光原位杂交检测了端粒延长替代的状态,用免疫组化方法检测了111例脂肪肉瘤(高分化28例、去分化52例、黏液或圆细胞型20例和多形性脂肪肉瘤11例)中ATRX和DAXX表达情况。结果显示高分化型、去分化型、黏液或圆细胞型和多形性脂肪肉瘤中端粒延长替代的发生率分别为0% (0/16)、30% (14/46)、5% (1/19)和80% (8/10),ATRX和DAXX的免疫表达阴性率分别为16%(18/111)和1%(1/111)。值得注意的是,所有ATRX或DAXX表达丢失的病例均有端粒延长替代发生,发生端粒延长替代的23个病例中有83% (19/23)显示ATRX或DAXX蛋白表达丢失。去分化脂肪肉瘤中ATRX或DAXX表达丢失与端粒延长替代之间100%相关。去分化脂肪肉瘤中存在端粒延长替代提示总体生存率低(风险比HR=1.954, P=0.077),是无进展生存率低最重要的指标(HR=3.119, P=0.003)。因此,我们得出结论:ATRX丢失是脂肪肉瘤中端粒延长替代最可能的发生机制,端粒延长替代是去分化脂肪肉瘤的预后因素,提示预后差。

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