头颈部结节性筋膜炎临床病理分析

Clinicopathological analysis of nodular fasciitis of head and neck

目的探讨头颈部结节性筋膜炎的临床病理、免疫表型特征及诊断、鉴别诊断方法。方法收集28例头颈部病理诊断为结节性筋膜炎患者的临床表现,并采用HE染色及EnVision法对其病理形态、免疫组化表达进行检测及回顾性分析。结果患者男女比例基本相同(1∶1.15);4~77岁,平均40岁;病程较短,25例少于6个月,肿块平均直径为1.3 cm,边界尚清,无包膜,15例位于外耳周围(53.6%),6例位于面部(21.4%),鼻背部及腮腺分别为3例(10.7%),另1例位于颈部(3.6%)。巨检显示肿瘤多呈结节状,镜下由增生的梭形或胖梭形的纤维母及肌纤维母细胞组成,呈漩涡状及编织状排列,并见黏液样基质和胶原纤维,部分病例可见微囊性腔隙,呈渔网状,间质内常可见外渗的红细胞及多核巨细胞。免疫组化表达Vimentin、SMA、MSA、calponin和CD10,不表达CK、Desmin、CD34、S-100、WT-1、ALK等。随访2~125个月,患者经手术切除后,均无复发。结论结节性筋膜炎是一种良性的自限性的纤维母细胞/肌纤维母细胞增生性病变,手术局部切除是最好的治疗方法。因其进展较快,镜下核分裂象易见,并可以侵犯周围组织等原因,很容易被误诊为各种恶性软组织肿瘤,在诊断为结节性筋膜炎之前一定要排除其他肿瘤性病变,再作出病理诊断。免疫组化表达结果有助于诊断和鉴别诊断该疾病,另外有文献表明结节性筋膜炎存在MYH9-USP6基因融合,故可行FISH检测从而帮助诊断和鉴别诊断该病。

Objective To explore the clinicopathological features, immunophenotype, diagnosis, and differential diagnosis of nodular fasciitis(NF) in the head and neck. Methods The clinical manifestations of 28 patients with NF diagnosed pathologically in the head and neck at the Eye, Ear, Nose and Throat Hospital, Fudan University from 2008 to 2019 were collected, and their pathological morphology and immunohistochemical expression were analyzed using hematoxylin and eosin staining and EnVision. Finally, a retrospective analysis and literature review were performed. Results The number of men and women is analogous(male-to-female ratio: 1∶1.15). The age ranged from 4 to 77 years, and mean age was 40 years. The course of the disease was shorter, in the 25 patients aged less than 6 months. The average diameter of the mass was 1.3 cm, and boundary was relatively clear, 15 cases(53.6%) were located around the outer ear, face in six cases(21.4%), back of the nose and parotid gland both in three cases(10.7%), and neck in one case(3.6%). Macroscopic examination showed that tumors were mostly nodular. Microscopically, they were consisted of proliferating spindle-shaped or fat spindle-shaped fibroblasts and myofibroblasts. They were arranged in a swirling and braided pattern, and the mucus-like matrix and collagen fibers were observed. The microcystic cavity was fishnet-shaped, and extravasated red blood cells and multinucleated giant cells were often seen in the interstitial space. Immunohistochemistry expressed vimentin, SMA, MSA, calponin, and CD10 but not CK, desmin, CD34, S-100, WT-1, or ALK. During the postoperative follow-up period, which ranged from 2 to 125 months, no local replace occured. Conclusion NF is a benign, self-limiting fibroblastic/myofibroblastic proliferative lesion. Local surgical resection is the best treatment option. Because of its rapid progress, microscopic mitotic figures are easy to see and can invade surrounding tissues. It can easily be misdiagnosed as a malignant soft tissue tumor, and other tumorous lesions must be excluded before the diagnosis of NF. Subsequently, a pathological diagnosis should be made. Immunohistochemical expression results are helpful in the definitive and differential diagnoses of the disease. In addition, MYH9-USP6 gene fusion has been reported in NF[1]. Therefore, FISH detection is feasible to help diagnose and differentiate the disease.