黏液样多形性脂肪肉瘤6例临床病理及分子遗传学分析  

Myxiod pleomorphic liposarcoma: a clinicopathological and molecular genetic analysis of six cases

作　　者：郑新春 黄海建[2] 游治杰 林洁[2] 陈小岩[2] 钟定荣 Zheng Xinchun;Huang Haijian;You Zhijie;Lin Jie;Chen Xiaoyan;Zhong Dingrong(Department of Pathology,Xiamen Third Hospital Affiliated to Fujian University of Traditional Chinese Medicine,Xiamen 361100,China;Department of Pathology,Fujian Provincial Hospital,Fujian Provincial Clinical Medical College,Fujian Medical University,Fuzhou 350001,China;Department of Pathology,Fujian Provincial Hospital South Branch,Fuzhou 350028,China;Department of Pathology,China-Japan Friendship Hospital,Beijing 100029,China)

机构地区：[1]福建中医药大学附属厦门市第三医院病理科,厦门361100 [2]福建医科大学省立临床医学院福建省立医院病理科,福州350001 [3]福建省立金山医院(福建省立医院南院)病理科,福州350028 [4]中日友好医院病理科,北京100029

出　　处：《中华病理学杂志》2022年第8期738-742,共5页Chinese Journal of Pathology

摘　　要：目的:探讨黏液样多形性脂肪肉瘤(myxiod pleomorphic liposarcoma,MPLPS)的临床病理及分子遗传学特征。方法:收集2015—2021年福建省立医院诊治及会诊MPLPS病例共6例,对其进行组织形态学观察及免疫组织化学染色,并运用荧光原位杂交(FISH)检测DDIT3(CHOP)和MDM2/CDK4基因。结果:6例病例中男性4例,女性2例,年龄26~74岁(平均年龄53.8岁)。肿瘤最大径3.8~16.0 cm(平均11.8 cm)。病理组织学上6例表现相似,表现为黏液性脂肪肉瘤样和多形性脂肪肉瘤样重叠的组织学形态。S-100蛋白4例(4/6)阳性,Ki-67阳性指数50%~95%。FISH法检测示DDIT3(CHOP)及MDM2/CDK4均为阴性(6/6)。1例基因测序存在TP53(p.R248W)胚系突变。结论:MPLPS是脂肪肉瘤的一种罕见亚型,病理学上表现为黏液性脂肪肉瘤样和多形性脂肪肉瘤样相重叠的形态,遗传学上少数有TP53基因胚系突变,但缺乏DDIT3(CHOP)基因易位和MDM2/CDK4基因扩增。Objective To investigate the clinicopathologic and molecular genetic characteristics of myxoid pleomorphic liposarcoma(MPLPS).Methods Six cases of MPLPS diagnosed and consulted in Fujian Provincial Hospital from 2015 to 2021 were collected for histomorphological observation,immunohistochemistry,and fluorescence in situ hybridization(FISH)detection of DDIT3(CHOP)gene translocation and MDM2/CDK4 gene amplification.Results There were four males and two females,aged 26-74 years(mean 53.8 years).The tumor size was 3.8-16.0 cm(mean 11.8 cm).All six cases had similar histopathologic features,showing overlapping histologic morphology of myxoid liposarcoma and pleomorphic liposarcoma.Four cases(4/6)were positive for S-100 protein,and the Ki-67 index was 50%-95%.All cases(6/6)were negative for DDIT3(CHOP)translocation and MDM2/CDK4 amplification by FISH.TP53(p.R248w)germline mutation was found in one case.Conclusions MPLPS is a rare subtype of liposarcoma,characterized by overlapping morphology of myxoid liposarcoma and pleomorphic liposarcoma.Genetically,a few of them have TP53 gene germline mutations,but they lack of DDIT3(CHOP)translocation or MDM2/CDK4 amplification.

关 键 词：软组织肿瘤 原位杂交 荧光 黏液样多形性脂肪肉瘤 

分 类 号：R738.6[医药卫生—肿瘤]