Prantl Lukas, Schreml Julia, Gehmert Sebastian, Klein Silvan, Bai Xiaowen, Zeitler Katharina, Schreml Stephan, Alt Eckhard, Gehmert Sanga, Felthaus Oliver
Regensburg and Cologne, Germany; Houston, Texas; and Milwaukee, Wis.
From the Center of Plastic and Reconstructive Surgery and the Departments of Pathology, Dermatology, and Obstetrics and Gynaecology, University Medical Center; Institute of Human Genetics, University Hospital of Cologne; the Department of Molecular Pathology, The University of Texas M. D. Anderson Cancer Center; and the Department of Anesthesiology, Medical College of Wisconsin.
Plast Reconstr Surg. 2016 Apr;137(4):1181-1190. doi: 10.1097/PRS.0000000000002013.
The cause of the rare fat distribution disorder multiple symmetric lipomatosis is unknown. Independent reports suggest a higher proliferative activity, hormone resistance, and involvement of mitochondrial function in the disease.
The authors performed morphologic comparison of affected and unaffected tissues in five unrelated patients and generated adipose-derived stem cell cultures from the tissue samples and characterized them as a possible cellular model of multiple symmetric lipomatosis evolution. The authors investigated proliferative activity and the expression of genes relevant to disease processes.
There was no difference in the morphologic appearance and the surface marker profile. Stem cells from lipomatous tissue showed significantly higher proliferative activity. Polymerase chain reaction arrays showed marked changes in genes associated with proliferation, hormonal regulation, and mitochondria. The authors show that multiple symmetric lipomatosis tissue is morphologically and histologically different from regular subcutaneous fat.
This study indicates an involvement of mesenchymal stem cells in the pathogenesis of multiple symmetric lipomatosis and that the evolution of multiple symmetric lipomatosis tissue is a process driven by an inherent defect of the respective cell clone(s). Further molecular genetics and functional analysis will be required to unravel the pathogenetic mechanism underlying the derailment in fat cell metabolism and proliferation. Here, the authors show for the first time that adipose-derived stem cells exhibit many characteristics previously described for native multiple symmetric lipomatosis fat tissue and propose that they are therefore an excellent tool for further functional investigations in multiple symmetric lipomatosis and other disorders of the fat tissue.
CLINICAL QUESTION/LEVEL OF EVIDENCE: Risk, V.
罕见的脂肪分布障碍性疾病——多发性对称性脂肪瘤病的病因尚不清楚。独立报告提示该病具有较高的增殖活性、激素抵抗以及线粒体功能受累。
作者对5例无亲缘关系患者的患病组织和未患病组织进行了形态学比较，并从组织样本中培养出脂肪来源干细胞，将其作为多发性对称性脂肪瘤病演变的可能细胞模型进行特征分析。作者研究了增殖活性以及与疾病过程相关基因的表达情况。
形态学外观和表面标志物谱无差异。脂肪瘤组织来源的干细胞显示出显著更高的增殖活性。聚合酶链反应阵列显示与增殖、激素调节和线粒体相关的基因有明显变化。作者表明，多发性对称性脂肪瘤病组织在形态学和组织学上与正常皮下脂肪不同。
本研究表明间充质干细胞参与了多发性对称性脂肪瘤病的发病机制，且多发性对称性脂肪瘤病组织的演变是由相应细胞克隆的固有缺陷驱动的过程。需要进一步的分子遗传学和功能分析来阐明脂肪细胞代谢和增殖紊乱背后的发病机制。在此，作者首次表明脂肪来源干细胞表现出许多先前描述的天然多发性对称性脂肪瘤病脂肪组织的特征，并提出它们因此是进一步研究多发性对称性脂肪瘤病和其他脂肪组织疾病功能的优秀工具。
临床问题/证据水平：风险，V级
