转移性隆突性皮肤纤维肉瘤的临床病理及分子特征  

Clinicopathological and molecular characteristics of metastatic protuberant dermatofibrosarcoma

作　　者：肖伟进 彭然 何鏐 吴峰[1] 朱伟峰[1] 陈宝珍[1] 力超[1] XIAO Weijin;PENG Ran;HE Liu;WU Feng;ZHU Weifeng;CHEN Baozhen;LI Chao(Department of Pathology,Clinical Oncology School of Fujian Medical University,Fujian Cancer Hospital,Fuzhou 350014,China)

机构地区：[1]福建医科大学肿瘤临床医学院,福建省肿瘤医院病理科,福州350014

出　　处：《临床与病理杂志》2023年第9期1748-1757,共10页Journal of Clinical and Pathological Research

摘　　要：目的:探讨转移性隆突性皮肤纤维肉瘤(dermatofibrosarcoma protuberans,DFSP)的临床病理学特征及分子改变并结合文献进行复习。方法:筛查2010至2022年福建省肿瘤医院病理科诊断的DFSP,共计174例,其中5例为转移性DFSP。收集患者资料,行苏木精-伊红(hematoxylin-eosin,HE)染色、免疫组织化学染色及荧光原位杂交(fluorescence in situ hybridization,FISH)检测,对原发灶与转移灶进行观察比较。结果:5例转移性DFSP,其中2例肺转移,3例腹腔转移;4例男性,1例女性;年龄39~66岁。除1例外,其余均有复发病史,初诊至转移间隔2~13年。形态上,均为纤维肉瘤型DFSP。对比原发灶,转移灶可出现CD34免疫组织化学染色强度减弱。FISH检测示4例有PDGFB基因易位伴拷贝数增加,腹部转移患者拷贝数多于肺转移。对比非转移性DFSP患者,转移性DFSP患者PDGFB分离阳性伴拷贝数扩增率高(80.0%vs 29.4%)。治疗上,3例转移灶行手术切除;2例无法手术或术后复发的病例接受伊马替尼药物治疗,均有疗效。结论:DFSP罕见发生远处转移,病理类型多为纤维肉瘤型,对多次复发且具有PDGFB基因易位伴拷贝数增加的DFSP术后患者应加强随访,警惕转移风险,对于无法手术的转移性DFSP,推荐伊马替尼靶向治疗。Objective:To investigate the clinicopathological and molecular characteristics of metastatic protuberant dermatofibrosarcoma(DFSP)and to review the literature.Methods:A total of 174 patients with DFSP diagnosed in the Department of Pathology of Fujian Cancer Hospital from 2010 to 2022 were screened,including 5 cases of metastatic DFSP.Patient data were collected,and hematoxylin-eosin(HE)staining,immunohistochemical staining,and fluorescence in situ hybridization(FISH)were performed to observe and compare the primary lesions and metastases.Results:Among the 5 cases of metastatic DFSP,2 had lung metastasis,and 3 had abdominal metastasis.There were 4 males and 1 female,with ages ranging from 39 to 66 years.Except for 1 case,all had a history of recurrence,with an interval between initial diagnosis to metastasis ranging from 2 to 13 years.Morphologically,all of them were fibrosarcomatous DFSP.Compared with the primary lesions,the intensity of CD34 immunohistochemical staining was decreased in metastatic lesions.A rearrangement of PDGFB was detected by FISH in 4 cases,and the copy numbers in abdominal metastasis patients were more than those in lung metastasis.Compared with non-metastatic DFSP patients,the rate of PDGFB rearrangement with copy number amplification was high in metastatic DFSP patients(80.0%vs 29.4%).In terms of treatment,3 cases with metastasis underwent surgical resection,and 2 cases that were not amenable to surgery or had postoperative recurrence received imatinib therapy,both with effects.Conclusion:DFSP rarely metastasizes to distant sites,and the pathological type is often the fibrosarcoma subtype.For DFSP patients with multiple recurrences and PDGFB rearrangement with copy number amplification,enhanced follow-up is recommended to be alert to the risk of metastasis.For metastatic DFSP patients who are not amenable to surgery,imatinib therapy is recommended.

关 键 词：转移 隆突性皮肤纤维肉瘤 基因重排 

分 类 号：R739.5[医药卫生—肿瘤]