【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。更多还原

【Abstract】 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.更多还原