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大型/深部“脂肪瘤”中MDM2/CDK4基因扩增:发生率、预测因素及临床意义

MDM2/CDK4 gene amplification in large/deep-seated 'lipomas': incidence, predictors and clinical significance.

作者信息

Wong Daniel D, Low Irene C, Peverall Joanne, Robbins Peter D, Spagnolo Dominic V, Nairn Robert, Carey-Smith Richard L, Wood David

机构信息

Department of Anatomical Pathology, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, WA, Australia; School of Pathology and Laboratory Medicine, University of Western Australia, Crawley, WA, Australia.

Department of Anatomical Pathology, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, WA, Australia.

出版信息

Pathology. 2016 Apr;48(3):203-9. doi: 10.1016/j.pathol.2016.02.007. Epub 2016 Mar 2.

Abstract

This study of 140 cases assessed the incidence of MDM2/CDK4 gene amplification in lipomatous neoplasms with histological features of a lipoma but which were of clinical concern due to large size (≥50 mm) and/or deep-seated (subfascial) location. Univariate and multivariate statistical analyses were used to identify clinical, radiological and pathological predictors of gene amplification. Differences in local recurrence rates between amplified and non-amplified cases were assessed using survival analysis. The findings indicate that the incidence of MDM2/CDK4 amplification in this setting is low at 5% (95%CI 1.4-8.6%). Variables associated with amplification on univariate analysis were tumour site (thigh, p = 0.004), size (>100 mm, p = 0.033) and presence of equivocal atypia (p = 0.001). Independent predictors on multivariate analysis were size (OR 3.9, 95%CI 1.4-11.3, p = 0.012) and presence of equivocal atypia (OR 12.5, 95%CI 1.9-80.3, p = 0.008). There was no significant difference in local recurrence rates between amplified and non-amplified cases (p = 0.461) based on a median follow-up time of 31 months. Assessment for MDM2/CDK4 amplification, therefore, should be considered in 'lipomas' which are >100 mm in size, show equivocal atypia and arise in the thigh. However, the clinical significance of gene amplification in this setting is unclear and requires confirmation in larger studies.

摘要

本研究纳入了140例脂肪瘤样肿瘤患者,这些肿瘤具有脂肪瘤的组织学特征,但由于体积较大(≥50mm)和/或位置较深(筋膜下)而具有临床意义。采用单因素和多因素统计分析来确定基因扩增的临床、放射学和病理学预测因素。使用生存分析评估扩增和未扩增病例之间局部复发率的差异。研究结果表明,在这种情况下,MDM2/CDK4扩增的发生率较低,为5%(95%CI 1.4-8.6%)。单因素分析中与扩增相关的变量包括肿瘤部位(大腿,p = 0.004)、大小(>100mm,p = 0.033)和存在可疑异型性(p = 0.001)。多因素分析中的独立预测因素为大小(OR 3.9,95%CI 1.4-11.3,p = 0.012)和存在可疑异型性(OR 12.5 ,95%CI 1.9-80.3,p = 0.008)。基于31个月的中位随访时间,扩增和未扩增病例之间局部复发率无显著差异(p = 0.461)。因此,对于大小>100mm、表现出可疑异型性且发生于大腿部的“脂肪瘤”,应考虑评估MDM2/CDK4扩增情况。然而,这种情况下基因扩增的临床意义尚不清楚,需要在更大规模研究中予以证实。

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