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基于单细胞RNA测序的马德隆病分析:一例报告及文献综述

Analysis of Madelung disease based on sc-RNA sequencing: A case report and literature review.

作者信息

Ma Xiao, Ma Shanshan, Cai Dechao, Wang Changming, Yu Haoran, Xie Juan, Cheng Wendan

机构信息

Department of Orthopedics, The Second Affiliated Hospital of Anhui Medical University, Hefei, China.

Department of Gynecologic Oncology, The First Affiliated Hospital of Bengbu Medical College, Bengbu, China.

出版信息

Mol Immunol. 2023 May;157:195-201. doi: 10.1016/j.molimm.2023.04.005. Epub 2023 Apr 13.

Abstract

Madelung disease (MD) was first described by Brodie in 1846 as a rare multiple lipoma. It is a benign tumor characterized by symmetrical diffuse adipose tissue deposition in the proximal extremities and neck. Until now, the etiology and pathogenesis of the disease have not been fully explained, resulting in difficulties in diagnosis and treatment; moreover, palliative treatment, such as surgical resection of adipose tissue or liposuction, is still the mainstream treatment for MD. However, the effectiveness of palliative surgery is limited, and most patients still relapse or metastasize after treatment. Therefore, we analyzed the relationship between tumor cells and immune cells in MD using single-cell RNA sequencing for the first time and combined an analysis of our results with a review of previous literature reports. Our study provides a new perspective on the pathogenesis of MD and provides a vital clinical basis for targeted therapy. DATA AVAILABILITY: The authors declare that all the data supporting the findings of this study are available within the article and its Supplemental information files.

摘要

马德隆病(MD)于1846年由布罗迪首次描述为一种罕见的多发性脂肪瘤。它是一种良性肿瘤,其特征是在近端肢体和颈部出现对称性弥漫性脂肪组织沉积。迄今为止,该病的病因和发病机制尚未得到充分解释,导致诊断和治疗困难;此外,姑息治疗,如手术切除脂肪组织或抽脂,仍然是MD的主流治疗方法。然而,姑息手术的效果有限,大多数患者在治疗后仍会复发或转移。因此,我们首次使用单细胞RNA测序分析了MD中肿瘤细胞与免疫细胞之间的关系,并将我们的结果分析与以往文献报道的综述相结合。我们的研究为MD的发病机制提供了新的视角,并为靶向治疗提供了重要的临床依据。数据可用性:作者声明,支持本研究结果的所有数据均包含在文章及其补充信息文件中。

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