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Leiomyosarcoma with alternative lengthening of telomeres is associated with aggressive histologic features, loss of ATRX expression, and poor clinical outcome.

具有端粒选择性延长的平滑肌肉瘤与侵袭性组织学特征、ATRX表达缺失和临床预后不良有关

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

Abstract

Leiomyosarcoma is an aggressive soft tissue sarcoma with poor patient survival. Recently, it was shown that 53% to 62% of leiomyosarcomas use the alternative lengthening of telomeres (ALT) as their telomere maintenance mechanism. The molecular basis of this mechanism has not been elucidated. Studies of pancreatic neuroendocrine tumor have suggested that the inactivation of either α-thalassemia/mental retardation syndrome X-linked (ATRX) or death domain-associated (DAXX) protein is associated with the ALT phenotype. In this study, we sought to determine the clinicopathologic features of leiomyosarcoma with the ALT phenotype and the possible relationship between this phenotype and ATRX/DAXX expression. Telomerase reverse transcriptase gene (TERT) promoter mutation analysis was also performed. Ninety-two leiomyosarcomas derived from the uterus, retroperitoneum/intra-abdomen, and various other sites were analyzed. Telomere-specific fluorescence in situ hybridization revealed that 59% (51/86) of leiomyosarcomas had the ALT phenotype. Loss of ATRX expression was observed in 33% of the tumors (30/92), and all but 2 ATRX-deficient tumors were ALT positive. Both the ALT phenotype and loss of ATRX expression were associated with epithelioid/pleomorphic cell morphology, tumor necrosis, and poor differentiation. None of the 92 cases lost DAXX expression. No TERT promoter mutation was detected (n=39). For survival analysis, poor differentiation, high FNCLCC grade, tumor size, and ALT phenotype were correlated with poor overall survival in univariate analysis. Tumor size and ALT phenotype remained independent prognostic factors in multivariate analysis. We concluded that the ALT phenotype in the leiomyosarcoma is associated with aggressive histologic features, loss of ATRX expression, and poor clinical outcome.

摘要

平滑肌肉瘤是一种低生存率的侵袭性软组织肉瘤。最近研究表明53%-62%的平滑肌肉瘤通过端粒选择性延长(ALT)作为其端粒维持机制。这一机制的分子基础还未被阐明。对胰腺神经内分泌肿瘤的研究提示α-地中海贫血/X连锁智力低下综合征(ATRX)或死亡结构域相关(DAXX)的蛋白失活与ALT表型有关。本研究中我们试图探讨具有ALT表型的平滑肌肉瘤的临床病理特征,以及这一表型与ATRX/DAXX表达之间可能存在的关系。同时也对端粒酶逆转录酶基因(TERT)启动子进行突变分析。对92例来源于子宫、腹膜后/腹腔内和其他不同部位的平滑肌肉瘤进行分析。端粒特异性荧光原位杂交显示59%(51/86)的平滑肌肉瘤具有ALT表型。33%(30/92)的肿瘤存在ATRX表达缺失,其中除2例ATRX缺陷肿瘤外其余ALT全部阳性。ALT表型和ATRX表达缺失均与上皮样/多形性细胞形态、肿瘤坏死和分化不良有关。92例病例无DAXX表达丢失。未检测出TERT启动子突变(n=39)。在单变量生存分析中,分化不良、高FNCLCC级别、肿瘤大小和ALT表型均与总生存期不良有关。而在多变量分析中,肿瘤大小和ALT表型仍是独立的预后因素。我们的结论是平滑肌肉瘤中ALT表型与侵袭性组织学特征、ATRX表达缺失和临床预后不良有关。
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