摘要
目的探讨去分化脂肪肉瘤(DL)的临床病理特征、诊断及预后。方法对15例DL进行临床病理资料分析、免疫组化及FISH检测,同时对患者进行随访获取预后信息。结果患者年龄29~79岁,中位64岁,男性11例,女性4例;手术标本13例,穿刺标本2例。在13例DL切除标本中,均可见肿瘤由非典型脂肪瘤样肿瘤/高分化脂肪肉瘤(ALT/WDL)和非脂肪性梭形细胞肉瘤组成,11例原发病例(除外2例穿刺标本)中有3例初次取材阅片时未见ALT/WDL成分,经补取材后才发现;2例复发病例未见到高分化脂肪肉瘤成分,均为非脂肪梭形细胞成分。免疫组化:15例DL去分化成分中有10例p16(+),7例MDM2(+),5例SMA(+),4例CD34(+),4例p53(+),3例CD68(+);脂肪肉瘤区域脂母细胞S-100(+);余CD117、DES、STAT6、CK、β-catenin等均为(-)。所有病例均行MDM2检测,FISH结果显示所有病例MDM2基因扩增。去分化区域可以单独或混合呈现以下形态:①纤维肉瘤样(9/15);②炎性肌纤维母细胞瘤样(6/15);③纤维瘤病样(4/15);④多形性未分化肉瘤样(3/15);⑤低度恶性黏液纤维肉瘤样(3/15);⑥血管外皮瘤样(1/15);⑦脑膜瘤样漩涡结构及神经样结构(1/15);⑧乳腺型肌纤维细胞瘤样(1/15);另外还可见软骨及骨分化等。随访期内2例死亡(1例3个月后复发死亡,1例12个月后脑转移死亡),余均存活。结论去分化脂肪肉瘤形态千变万化,分子遗传学MDM2基因检测至关重要;肿瘤发生部位及复发次数是肿瘤预后的关键因素,手术切除是DL主要治疗方法,放、化疗的作用仍有争议,新型靶向治疗是一个潜在治疗方向。
Objective To investigate the clinicopathologic features,immunophenotype,genetic characteristics and prognosis of dedifferentiated liposarcoma(DL).Methods 15 cases of DL were analyzed on their clinical and pathological manifestations,immunohistochemistry,fluorescence in situ hybridization(FISH)and follow-up.Results The age of patients ranged from 29 to 79 years(median 64 years).There were 11 males and 4 females.Among 15 cases,2 cases were needle biopsies and 13 cases were surgical specimens.The surgical specimens of DL were composed of atypical lipomatous tumor/well differentiated liposarcoma(ALT/WDL)and non-lipogenic sarcoma.2 relapse cases were composed of non-lipogenc sarcoma only.In the first sampling materials,3 of the 11 primary cases(except 2 needle biopsies)had no atypical lipomatous tumor/well differentiated liposarcoma(ALT/WDL)observed.It was found until materials were resampled in the second time.Immunohistochemical study showed that the dedifferentiated regions expressed P16 in 10 cases,MDM2 in 7 cases,SMA in 5 cases,CD34 in 4 cases,P53 in 4 cases,and CD68 in 3 cases.S100 expression were detected in lipoblast;nevertheless,CD117,DES,STAT6,CK,beta-catenin were negtive in the dedifferentiated areas.The following morphologic features were found in dedifferentiated areas:fibrosarcoma-like(8/15),inflammatory myofibroblastic tumor-like(6/15),fibromatoses-like(4/15),pleomorphic undifferentiated sarcoma-like(3/15),low grade malignant myxfibrosarcoma-like(3/15),haemangiopericytoma-like(1/15),meningothelial like whorling pattern and nerve like structure(1/15)and mammary-type myofibroblastoma(1/15).Besides,heterogeneous components also were found,such as bone,cartilage.2 cases were dead(one was because of multiple recurrences and the other was because of brain metastases),and others was alive during the follow-up period.Conclusions Dedifferentiated areas in DL exhibit a variable histological picture.Molecular genetic testing of MDM2 is crucial to diagnosis of DL.The location and frequency of tumor recurrence are the key factors of prognosis of DL.Surgical resection is the main treatment method for DL,and the role of radiotherapy and chemotherapy is still controversial.New targeted therapy is a potential treatment direction.
作者
涂金花
高德宏
陈培琼
张海萍
钟山
TU Jin-hua;GAO De-hong;CHEN Pei-qiong;ZHANG Hai-ping;ZHONG Shan(Department of Pathology,the First Affiliated Hospital of Xiamen University,Xiɑmen 361003,China)
出处
《诊断病理学杂志》
2019年第10期642-645,650,共5页
Chinese Journal of Diagnostic Pathology
关键词
脂肪肉瘤
去分化
分子遗传学
预后
Liposarcoma
Dedifferentiation
Molecular genetics
Prognosis
