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伴有低级别骨肉瘤成分的椎旁高分化脂肪肉瘤:11年随访的病例报告、放射学、病理学和遗传学数据及文献综述

Paravertebral Well-Differentiated Liposarcoma with Low-Grade Osteosarcomatous Component: Case Report with 11-Year Follow-Up, Radiological, Pathological, and Genetic Data, and Literature Review.

作者信息

Macagno Nicolas, Fuentes Stéphane, de Pinieux Gonzague, Maues de Paula André, Salas Sébastien, Mattéi Jean-Camille, Dupuis Charlotte, Appay Romain, Aurias Alain, Dufour Henry, Figarella-Branger Dominique, Bouvier Corinne

机构信息

Department of Pathology, APHM, Marseille, France.

Department of Neurosurgery, APHM, Marseille, France.

出版信息

Case Rep Pathol. 2017;2017:2346316. doi: 10.1155/2017/2346316. Epub 2017 Mar 9.

Abstract

Despite being one of the most frequent soft-tissue sarcomas, well-differentiated liposarcoma has never been reported near the spine. The authors present the case of a 67-year-old man with progressive history of back pain. Physical examination revealed a mass located within the right paravertebral muscles. MR and CT imaging showed a heavily ossified central mass surrounded by a peripheral fatty component. No connection with the underlying bone was detected on imagery and during surgery. After surgical resection, histopathological examination revealed a tumor harboring combined features of well-differentiated liposarcoma and low-grade osteosarcoma. Tumor cells displayed overexpression of MDM2, CDK4, and P16 by immunohistochemistry and CGH revealed amplification of 12q13-15 as the only genetic imbalance. MDM2 FISH analysis was performed but was inconclusive. The pathological, immunohistochemical, and genetic features, the differential diagnoses, and the therapeutic management of this unusual tumor are discussed. No complementary treatment was performed initially. Following first treatment, two recurrences occurred 6 and 9 years later, both displaying histological features similar to the first occurrence. Radiotherapy was started after the second recurrence. Follow-up shows no evidence of disease 11 years after initial diagnosis. This case was unusual due to the paravertebral location of the tumor and its divergent differentiation.

摘要

尽管高分化脂肪肉瘤是最常见的软组织肉瘤之一,但从未有过在脊柱附近发生的报道。作者报告了一例67岁男性,有进行性背痛病史。体格检查发现右侧椎旁肌肉内有一肿块。磁共振成像(MR)和计算机断层扫描(CT)显示一个中央大量骨化的肿块,周围有脂肪成分。影像学检查及手术过程中均未发现与下方骨骼有连接。手术切除后,组织病理学检查显示肿瘤具有高分化脂肪肉瘤和低级别骨肉瘤的联合特征。免疫组织化学检查显示肿瘤细胞MDM2、细胞周期蛋白依赖性激酶4(CDK4)和P16过表达,比较基因组杂交(CGH)显示12q13 - 15扩增是唯一的基因失衡。进行了MDM2荧光原位杂交(FISH)分析,但结果不明确。本文讨论了这种罕见肿瘤的病理、免疫组织化学和遗传学特征、鉴别诊断及治疗处理。最初未进行辅助治疗。首次治疗后,6年和9年后出现两次复发,组织学特征均与首次发病相似。第二次复发后开始放疗。随访显示,初始诊断11年后无疾病迹象。该病例因肿瘤位于椎旁及其分化差异而不同寻常。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5654/5362705/226ba2f997e7/CRIPA2017-2346316.001.jpg

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