目的:探讨侵袭性纤维瘤(Aggressive fibromatosis, AF)的病因、临床表现、病理特征、诊断及治疗方法和预后。方法:对1例外阴侵袭性纤维瘤患者的病例资料及相关文献进行回顾性分析。结果:侵袭性纤维瘤病是一类临床少见的软组织肿瘤,可发生于全身各处,外阴部位发病罕见。肿瘤易局部复发,无远处转移能力,发病与内分泌、创伤、遗传等多因素相关。该病常表现为无痛性肿块,可压迫或局部侵犯周围组织产生相应临床症状。MRI是明确肿瘤大小、位置、与周围组织关系的首选影像学检查。该病具有较明确的病理特征:多无包膜,边界不清,质硬韧,镜下见束状平行排列的呈长梭形成纤维细胞和肌纤维母细胞,细胞呈浸润性生长,无病理性核分裂及异型性。结论:侵袭性纤维瘤病因不明,发病部位不一,临床表现无明显特异性。病理学检查为诊断的金标准。治疗方法主要为手术切除,术后复发率较高,应定期随访。 Objective: The objective is to explore the etiology, clinical manifestations, pathological features, diagnosis, treatment methods and prognosis of aggressive fibromatosis (AF). Methods: Case data and related literature of a patient with aggressive fibromatosis of vulva were retrospectively analyzed. Results: Aggressive fibromatosis is a kind of clinically rare soft tissue tumor that can occur throughout the body, and the onset of the vulva site is rare. Tumors are prone to local recurrence, without distant metastatic ability, and the pathogenesis is associated with endocrine, genetic, trauma and other factors. The disease often presents as a painless mass, which can compress or locally invade the surrounding tissue to produce the corresponding clinical symptoms. MRI is the preferred imaging examination to define the tumor size, location and relationship with the surrounding tissues. The disease has clear pathological characteristics: mostly no capsule, unclear boundary, hard toughness, microscopic parallel arrangement of bundles to form fibroblast cells and myofibroblast cells. Cells show invasive growth, no pathological nuclear division and atypia. Conclusions: Aggressive fibromatosis has unknown etiology, variable onset sites, and no obvious clinical specificity. Pathological examination is the gold standard for diagnosis. The main treatment is surgical resection, with a high postoperative recurrence rate, and postoperative follow-up is required.
目的:探讨侵袭性纤维瘤(Aggressive fibromatosis, AF)的病因、临床表现、病理特征、诊断及治疗方法和预后。方法:对1例外阴侵袭性纤维瘤患者的病例资料及相关文献进行回顾性分析。结果:侵袭性纤维瘤病是一类临床少见的软组织肿瘤,可发生于全身各处,外阴部位发病罕见。肿瘤易局部复发,无远处转移能力,发病与内分泌、创伤、遗传等多因素相关。该病常表现为无痛性肿块,可压迫或局部侵犯周围组织产生相应临床症状。MRI是明确肿瘤大小、位置、与周围组织关系的首选影像学检查。该病具有较明确的病理特征:多无包膜,边界不清,质硬韧,镜下见束状平行排列的呈长梭形成纤维细胞和肌纤维母细胞,细胞呈浸润性生长,无病理性核分裂及异型性。结论:侵袭性纤维瘤病因不明,发病部位不一,临床表现无明显特异性。病理学检查为诊断的金标准。治疗方法主要为手术切除,术后复发率较高,应定期随访。
侵袭性纤维瘤病,临床表现,诊断,治疗
Xue Sun1, Tongtong Ji1, Yanci Che2*
1Qingdao University, Qingdao Shandong
2Department of Gynecology, The Affiliated Hospital of Qingdao University, Qingdao Shandong
Received: Mar. 20th, 2022; accepted: Apr. 14th, 2022; published: Apr. 22nd, 2022
Objective: The objective is to explore the etiology, clinical manifestations, pathological features, diagnosis, treatment methods and prognosis of aggressive fibromatosis (AF). Methods: Case data and related literature of a patient with aggressive fibromatosis of vulva were retrospectively analyzed. Results: Aggressive fibromatosis is a kind of clinically rare soft tissue tumor that can occur throughout the body, and the onset of the vulva site is rare. Tumors are prone to local recurrence, without distant metastatic ability, and the pathogenesis is associated with endocrine, genetic, trauma and other factors. The disease often presents as a painless mass, which can compress or locally invade the surrounding tissue to produce the corresponding clinical symptoms. MRI is the preferred imaging examination to define the tumor size, location and relationship with the surrounding tissues. The disease has clear pathological characteristics: mostly no capsule, unclear boundary, hard toughness, microscopic parallel arrangement of bundles to form fibroblast cells and myofibroblast cells. Cells show invasive growth, no pathological nuclear division and atypia. Conclusions: Aggressive fibromatosis has unknown etiology, variable onset sites, and no obvious clinical specificity. Pathological examination is the gold standard for diagnosis. The main treatment is surgical resection, with a high postoperative recurrence rate, and postoperative follow-up is required.
Keywords:Aggressive Fibromatosis, Clinical Manifestations, Diagnosis, Treatment
Copyright © 2022 by author(s) and Hans Publishers Inc.
This work is licensed under the Creative Commons Attribution International License (CC BY 4.0).
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侵袭性纤维瘤(Aggressive fibromatosis, AF),是一种罕见的软组织肿瘤,起源于肌肉结缔组织、筋膜或腱膜 [
患者女性,41岁,因“自扪及外阴肿物1年半”于2021年8月24日入院。患者既往2019年4月曾因“外阴肿物”行外阴肿物切除术,病理提示:纤维瘤,术后未定期复查。个人史无特殊,无腹部外伤史,无家族性疾病病史。体检:阴阜见直径约5 cm肿物,实性,不规则,触痛不明显。入院后体表肿物超声提示:外阴阴阜正中皮肤及皮下脂肪层见4.8 × 3.9 × 1.5 cm低回声肿物,形态尚规则,边界尚清,内见少许点状血流信号。女性盆腔MR平扫(图1)提示:外阴可疑团块状长T1稍长T2信号影,大小约38 mm × 15 mm。结合患者症状、体征、既往史及辅助检查,考虑纤维瘤复发可能。排除手术禁忌后于2021-08-26行外阴肿物切除术,术中距肿物边缘1 cm做一梭形切口,深度达皮下脂肪0.5 cm,完整切除肿物(图2)。标本送病理检查:肉眼见:带皮组织一件,大小5.5 × 4 × 3 cm,距最近切缘0.1 cm,于皮肤中央见一隆起型肿物,范围5 × 4 cm,高起皮肤1.5 cm,切面灰白质韧。病理诊断:(外阴肿物)梭形细胞病变,边界欠清,细胞核轻度异型,核分裂不易找到,结合病史及免疫组化结果,考虑为侵袭性纤维瘤病,距离手术切缘较近。建议术后密切随访。免疫结果:Vimentin(+),ER(−),PR(−),CD34(−),Desmin(−),SMA弱(+),S-100(−),STAT6(−),Ki-67(3%),β-Catenin浆/核(+)。术后予预防感染、止痛等对症治疗,恢复顺利出院,术后随访6个月未再复发。
图1. 本例侵袭性纤维瘤病MRI图像
图2. 手术标本
AF的发病机制尚不明确,目前认为可能是与内分泌、创伤、遗传等多因素相关的致病过程。有研究表明,大约90%的硬纤维瘤是偶发的,而其余10%为家族性的 [
根据生长部位,将侵袭性纤维瘤分为腹外型、腹壁型和腹内型,其中腹外型最常见(50%~60%),其次为腹壁型(25%)和腹内型(15%) [
AF的影像学检查主要包括超声、CT、MRI等,可用于评估病灶位置、范围、大小、浸润深度及与周围组织的关系。其中MRI能更好地显示肿瘤边缘及与周围组织的关系,推断病变组织成分,有助于明确诊断,可作为辅助诊断AF的首选影像学检查 [
病理学检查为确诊AF的金标准。AF病理特征:肉眼观——肿物边界不清,形态不规则,多无包膜,较大病灶可出现不连续的假包膜,质硬韧,切面灰白,呈交错编织状。显微镜下观——增生的纤维母细胞境界清楚,无异型性,呈束状排列,胶原纤维嵌插于细胞之间,量比分化好的纤维肉瘤多;细胞核染色呈点彩状,有核仁,无病理性核分裂。电镜观察纤维瘤病是由增生的纤维母细胞、肌纤维母细胞、胶原纤维共同组成。免疫组织化学:均表达波形蛋白,有时不同程度表达α-SMA和Desmin,而S-100、CD34则很少表达,β-catenin呈显著核阳性表达 [
目前,AF的治疗包括手术切除、局部放射治疗、化学治疗、激素治疗等,通过外科手术切除病灶及周围浸润组织仍作为AF的一线治疗手段,但即使达到根治性切除,AF的局部复发率仍然高达20%~30% [
已经患者许可。
孙 雪,姬同同,车艳辞. 外阴侵袭性纤维瘤病1例并文献复习A Case of Aggressive Fibromatosis of Vulva and Literature Review[J]. 临床医学进展, 2022, 12(04): 3099-3103. https://doi.org/10.12677/ACM.2022.124447