侵袭性纤维瘤病恶变为纤维肉瘤1例报告并文献复习

目的 探讨侵袭性纤雏瘤病的临床表现、病理特点、治疗及促使其恶变为纤维肉瘤的相关因素.方法 报告1例上肢侵袭性纤维瘤病恶变为纤维肉瘤的临床资料并复习相关文献.结果 侵袭性纤维瘤病是一种介于良性和恶性之间的纤维增生性肿瘤,具有局部漫润性和破坏性生长的生物特性;病理学表现为成纤维细胞单克隆性增生,由分化良好的成纤维细胞和肌成纤维细胞组成,缺乏恶性细胞学特征,电镜下见多形态细胞被增生的胶原网包绕,免疫组化波形蛋白和肌动蛋白阳性;手术切除为主要治疗措施,术后复发率高迭10%～70%,因此多数患者需多次手术并配合放射治疗和化学治疗;本例患者接受手术切除并经放射治疗1疗程后的13个月时复发,再次手术病理示纤维肉瘤.结论 侵袭性纤维瘤病是一种少见的纤维增生性肿瘤,其治疗以手术切除为主,具有高度复发倾向,术后常需配合放射治疗、化学治疗,向纤维肉瘤转变罕见,手术刺激、放射治疗可能是促使其恶变的主要因素.     

Aggressive fibromatosis of the right colon mimicking a gastrointestinal stromal tumour: a case report

Aggressive fibromatosis is a rare type of intra-abdominal desmoid tumour that usually involves the small bowel mesentery. It is a locally-invasive lesion, with a high rate of recurrence, but without metastatic potential. Aggressive fibromatosis is seen more often in young female patients. This case report presents the radiological, intraoperative and histopathological findings from a 37-year-old female patient that presented with epigastric pain and a palpable mass in the right hemiabdomen. Histological and immunohistochemical examinations of the resected tumour, including positive staining for beta-catenin, confirmed a postoperative diagnosis of desmoid type fibromatosis. This specific case showed that desmoid type fibromatosis of the colon can mimic gastrointestinal stromal tumours (GIST) based on its clinical presentation, computed tomography and magnetic resonance imaging findings. Differential diagnosis between desmoid type fibromatosis and GIST is clinically very important due to the different treatments and follow-up protocols that are implemented for these lesions.     

Desmoid fibromatosis in the pharyngeal wall: A case report and literature review

Desmoid fibromatosis (DF) is one of the rarest locally aggressive growing benign tumor entities. We present an overview of the literature and a rare clinical case of a 22‐year‐old female patient, who was diagnosed with aggressive DF in the left pharyngeal wall at the age of 4 years old.     

Desmoid Tumors: A Review of the Literature and Pharmacologic Management

Desmoid tumors represent a nonmalignant proliferation of fibroblast-related cells. These rare tumors are difficult to treat and often persist as indolent, lifelong conditions. There are a number of treatments available for both anatomic and symptom regression. Some of these treatments, unfortunately, may not provide long-lasting results and may result in further complications. Pain is a distressing symptom that may be due to the tumor itself or the result of utilized treatments. Pharmacologic therapies represent a noninvasive alternative to surgical resection. Pain symptoms require therapeutic regimens that must be modified as the tumor evolves in expression. The individualized pain treatment program utilized may often reflect principles used in both nonmalignant and malignant pain management models. This review seeks to increase awareness of desmoid tumors through a review of the literature and discussion of its pharmacotherapeutic management.     

腹部韧带样型纤维瘤病临床特点及治疗探讨

目的探讨腹部韧带样型纤维瘤病（desmoid-type fibromatosis,DTF）的临床特点及治疗方法。方法对我院2006年4月～2011年4月收治的26例腹部DTF临床资料进行回顾性分析。结果本组自行发现或体检时偶然发现腹部肿块24例（92.3%）,腹部不适2例（7.7%）。有腹部手术史10例（38.5%）。术前确诊DTF2例（7.7%）,诊断为腹壁肿瘤20例（76.9%）,余4例分别误诊为原发性肝癌、结肠癌、小肠肿瘤、盆腔肿瘤各1例（各占3.8%）。26例均行手术切除并经病理检查确诊,术后均恢复良好,无术后并发症发生,随访未见肿瘤局部复发及转移。结论 DTF多见于经产妇女,好发于既往有手术史者,以腹壁发病率为最高,肿瘤病理表现虽为良性,但临床上具有浸润性生长和易复发的特点,多发生于深部软组织,手术为该病主要治疗方法。     

韧带样型纤维瘤病的影像表现及其病理基础

目的 探讨韧带样型纤维瘤（DF）的影像学特征及病理学基础.方法 回顾性分析经手术病理证实的韧带样型纤维瘤14例,6例行CT检查,其中 3 例增强检查;8例行 MRI 检查,其中7例增强.分析CT及MRI表现,并对肿瘤的病理特点进行分析.结果 肿瘤平均直径6.2cm.肿瘤形态为不规则形或分叶状11例（11/16）.肿瘤与周围结构分界不清或部分分界不清的9例（9/16）.7个肿瘤在CT上呈稍低或等密度,3例增强后呈中度或高度强化.9例病灶在T1WI图像上呈等或稍低信号,在T2WI上呈稍高信号,8个病灶呈中度或高度强化.9个病灶内有条索状、片状的长T1、短T2区域,增强后未见强化.光镜下瘤细胞长梭形,无明显异型性,核分裂少见,呈侵袭性生长,浸润周围的横纹肌及脂肪组织,伴胶原纤维增生及程度不等的透明变性、黏液变性.结论 韧带样型纤维瘤影像学变现具有一定的特异性,认识其病理学改变有助于解释该病的影像学表现,有助于提高术前诊断率,磁共振对手术切除范围的判断具有优势.     

高频彩色多普勒超声对腹壁纤维瘤病的诊断价值

目的总结腹壁纤维瘤病的声像图特征，探讨超声对腹壁纤维瘤病的诊断价值。方法分析总结了12例经手术及穿刺活检病理证实的腹壁纤维瘤病的二维和彩色多普勒超声特征。结果腹壁纤维瘤病声像图及血流图特征，腹肌内长条形实性低回声包块，无包膜，边界欠清，周边及内部见少许血流信号。结论高频彩色多普勒超声对腹壁纤维瘤病的诊断与鉴别诊断具有重要价值，可为临床诊断及治疗提供可靠的信息。     

High-intensity focused ultrasound treatment for intra-abdominal desmoid tumors: a report of four cases

Desmoid tumors are rare clonal fibroblastic proliferations that can arise at abdominal or extra-abdominal sites. Complete surgical resection is the primary treatment for resectable desmoid tumors, but a high rate of local recurrence has been reported even after complete resection. For patients with a recurrent tumor, the goals of treatment are to control the recurrence, maintain quality of life, and prolong survival. Radiofrequency ablation, radiotherapy, chemotherapy, and other medical therapies can be used as alternative methods, but there are considerable controversies over the roles of these methods in the management of desmoid tumors. High-intensity focused ultrasound (HIFU) is a minimally invasive and effective method for treatment of solid tumors. We used HIFU to treat four patients with intra-abdominal desmoid tumors from June 2011 to September 2013. Post-procedural pain was seen in all patients. One patient had an intra-abdominal abscess and another suffered a slight injury to the femoral nerve. The patients were followed up for 19–46 months (mean 34 months) until April 2015. The tumor in one patient disappeared, and no tumor progression was observed in the other patients.     

Gene expression in aggressive fibromatosis

Aggressive fibromatosis represents a group of tumors with heterogeneous patterns of biologic behavior. In this study, gene expression in 12 samples of aggressive fibromatosis, as well as that in samples of normal skeletal muscle and a variety of normal tissues, was determined at Gene Logic Inc (Gaithersburg, MD), with the use of Affymetrix GeneChip U_133 arrays containing approximately 33,000 genes. Gene-expression analysis was performed with the Gene Logic Gene Express software system. Differences in gene expression were quantified as the fold change in gene expression between the sets of fibromatosis tissue and normal skeletal muscle. A set of genes was then identified that was significantly overexpressed in aggressive fibromatosis compared with expression in normal muscle. This set of genes was then further examined for expression in a variety of normal tissues. We identified genes that were selectively overexpressed in aggressive fibromatosis compared with expression in 448 samples comprising 16 different nonneoplastic tissues. In particular, ADAM12, WISP-1, SOX-11, and fibroblast activation protein-alpha were uniquely overexpressed in aggressive fibromatosis compared with expression in normal tissues. In addition, the technique of Eisen clustering identified 2 distinct subgroups of aggressive fibromatosis with regard to gene expression. We conclude that gene-expression patterns may be useful in the further classification of subtypes of aggressive fibromatosis and that such classification could have clinical significance.     

Desmoid tumors of the abdominal wall.

Desmoid tumors are musculo-aponeurotic fibromatoses which most commonly occur in the abdominal wall. They do not metastasize but local recurrence is common. The treatment of choice is wide local excision of the mass and surrounding normal tissue. We have described a rare desmoid tumor which involved the abdominal wall as well as small and large bowel. En bloc intestinal resections were required for complete tumor extirpation.     

韧带样型纤维瘤病的超声图像及病理基础

目的通过总结韧带样型纤维瘤病（DF）的超声图像表现和病理学结构,以提高对DF的认识和诊断水平。方法回顾性分析2005年1月-2011年12月70例经手术和病理组织学证实为DF患者的超声图像和病理组织学结果。结果DF肿块的超声表现与病理结构密切相关。70例DF中腹部外型41例（58．6％）、腹壁型18例（25．7％）、腹内型11例（15．7％）。DF的典型超声图像表现为沿肌纤维浸润性生长的低回声肿块,累及多块肌肉;肿块无包膜,多数形态不规则、边界不清;其中8例包绕和侵犯相邻骨质,12例肿瘤压迫或侵犯邻近血管、神经、肠管等组织;40例瘤体内探及I级血流信号,4例探及Ⅲ级血流信号;所有病变均未见坏死出血和囊变,病变周围无淋巴结肿大。结论DF的声像图表现有较强的特征性,超声能较为准确判断肿块累及范围、是否侵犯相邻骨质、与毗邻血管、神经的关系,有助于制定手术计划。     

Intra-abdominal desmoid-type fibromatosis successfully resected using laparoscopic fluorescence imaging with indocyanine green after intersphincteric resection for rectal cancer

Successful resection of intra-abdominal tumors using indocyanine green (ICG) fluorescence imaging has not been reported. Here, we report a rare case of an intra-abdominal desmoid-type fibromatosis successfully resected using this technique after intersphincteric resection (ISR) for rectal cancer. One year after ISR for rectal cancer in a 47-year-old man, computed tomography showed a 50-mm intra-abdominal tumor near the left common iliac vein. Surgical resection was performed. The tumor was located in the mesentery of the remnant rectum after ISR. ICG fluorescence imaging confirmed the blood supply to the mesentery of the distal remnant rectum after tumor excision. The anal canal was successfully preserved without creating a permanent colostomy. The tumor was safely resected with resection margins, diagnosed as desmoid-type fibromatosis. No tumor recurrence was observed 6 months post-resection. This was the first case report to demonstrate the utility of this technique for an intra-abdominal tumor resection.     

韧带样纤维瘤病的CT及MRI特征及病理对照

目的回顾性分析韧带样纤维瘤的CT及MRI特征表现及病理基础。方法收集经手术病理证实的韧带样纤维瘤共27例影像学及病理资料,CT检查12例,MRI检查14例,另1例行CT及MRI检查;全部病例均行增强扫描。结果27例共30个病灶,16个病灶发生于腹壁,14个病灶发生于腹壁外。形态：全部病灶均沿肌纤维长轴生长,20个呈梭形或类圆形,10个不规则形;7个边界较清,23个边界不清。与肌肉密度、信号相比：CT上10个病灶呈稍低密度,3个呈等密度,9个渐进性中度强化,4个不均匀性强化;T1WI上9个病灶呈等信号,9个病灶呈稍低信号;T2WI上15个呈高或稍高信号,3个呈混杂信号;STIR上均呈较高信号,15个内部见条片状低信号;增强扫描所有病灶不均匀性渐进性中度强化,其中12个内部条状斑片状的低信号未见明显强化。病理上肿瘤多呈浸润性生长,由纤维母细胞和肌纤维母细胞组成,内部见致密纤维组织及胶原组织,部分见黏液沉积。结论韧带样纤维瘤的CT、MRI表现有一定特征,肿瘤多呈浸润生长,瘤内出现特征性稍低密度或条带状低信号,无液化坏死区,渐进性中度强化。     

儿童臀部纤维瘤病的CT表现与病理对照

目的探讨CT对儿童臀部纤维瘤病的诊断价值。方法回顾性分析8例儿童臀部纤维瘤病的CT表现。其中男7例,女1例;年龄2～ll岁。全部病例均经手术病理证实。对照病理征象,探讨CT表现的病理基础。结果7例发生于左臀,1例发生于右臀。CT征象表现为椭圆形或分叶状肿块;单块肌肉受累者3例,2块以上肌肉受累者5例;边缘均较清晰;爪状浸润者7例;平扫瘤内密度较均匀,与同层肌肉比较呈等密度者5例,稍低密度者3例;肿瘤内部无出血、坏死、囊性变及钙化;7例肿瘤增强扫描明显强化,1例与肌肉等密度强化;7例肿瘤沿肌肉长轴及筋膜间隙浸润性生长;6例肿瘤邻近未受累肌肉受压萎缩。临床症状主要为跛行。病理诊断均为儿童臀部纤维瘤病。结论儿童臀部纤维瘤病的发病年龄、性别、部位及CT表现有一定的特征。CT征象与病理表现一致,有助于该病术前正确诊断和鉴别诊断,可准确评估肿瘤侵犯范围以及与周围结构的关系。     

Misdiagnosis of ligamentoid fibromatosis of the small mesenteric: A case report

BACKGROUNDLigamentoid fibromatosis is a rare borderline tumor that occurs in the muscles, fascia, and aponeurosis. It is a kind of soft tissue tumor of fibrous origin, also known as invasive fibromatosis, desmoid fibroma, neurofibromatosis, etc. The tumor is between benign and malignant tumors and rarely has distant metastasis. Its characteristics are mainly local invasion, destruction and growth and easy recurrence. The World Health Organization defines it as a fibroblast cloning value-added lesion originating from deep soft tissue, which causes local invasion and growth leading to tissue reconstruction, extrusion and destruction of important structures and organs. The incidence rate accounts for 0.03% of all tumors and less than 3% of all soft tissue tumors. Definite diagnosis mainly depends on postoperative pathology. Surgical resection is still the main way to treat the disease, and a variety of nonsurgical treatment methods are auxiliary. Combined treatment can effectively reduce the risk of postoperative recurrence.CASE SUMMARYThe patient is a 57-year-old female. One week ago, she accidentally found a mass in the left upper abdomen while lying flat. There was no abdominal pain and abdominal distention, no fever, no black stool and blood in the stool and no nausea and vomiting. She had a 10-year history of glaucoma on the left side, underwent hysterectomy for uterine fibroids 5 years ago, had no hypertension, heart disease, diabetes, hepatitis or tuberculosis, had no history of smoking and had been drinking for 20 years.CONCLUSIONAccurate preoperative diagnosis is difficult, surgical resection is the main treatment, and a variety of nonsurgical treatment methods are auxiliary. Combined treatment can effectively reduce the risk of postoperative recurrence. The prognosis is still good, and the risk of recurrence of secondary surgery is greatly increased.     

Clinical and imaging features of desmoid tumors of the extremities

BACKGROUNDDesmoid fibroma is a rare soft tissue tumor originating from the aponeurosis, fascia, and muscle, and it is also known as aponeurotic fibroma, invasive fibroma, or ligamentous fibroma.AIMTo investigate the clinical and imaging features of desmoid tumors of the extremities.METHODSThirteen patients with desmoid fibroma of the extremities admitted to our hospital from October 2016 to March 2021 were included. All patients underwent computed tomography (CT), magnetic resonance imaging (MRI), and pathological examination of the lesion. Data on the diameter and distribution of the lesion, the relationship between the lesion morphology and surrounding structures, MRI and CT findings, and pathological features were statistically analyzed.RESULTSThe lesion diameter ranged from 1.7 to 8.9 cm, with an average of 5.35 ± 2.39 cm. All lesions were located in the deep muscular space, with the left and right forearm each accounting for 23.08% of cases. Among the 13 patients with desmoid fibroma of the extremities, the lesions were "patchy" in 1 case, irregular in 10, and quasi-round in 2. The boundary between the lesion and surrounding soft tissue was blurred in 10 cases, and the focus infiltrated along the tissue space and invaded the adjacent structures. Furthermore, the edge of the lesion showed "beard-like" infiltration in 2 cases; bone resorption and damage were found in 8, and bending of the bone was present in 2; the boundary of the focus was clear in 1. According to the MRI examination, the lesions were larger than 5 cm (61.54%), round or fusiform in shape (84.62%), had an unclear boundary (76.92%), showed uniform signal (69.23%), inhomogeneous enhancement (84.62%), and "root" or "claw" infiltration (69.23%). Neurovascular tract invasion was present in 30.77% of cases. CT examination showed that the desmoid tumors had slightly a lower density (69.23%), higher enhancement (61.54%), and unclear boundary (84.62%); a CT value < 50 Hu was present in 53.85% of lesions, and the enhancement was uneven in 53.85% of cases. Microscopically, fibroblasts and myofibroblasts were arranged in strands and bundles, without obvious atypia but with occasional karyotyping; cells were surrounded by collagen tissue. There were disparities in the proportion of collagen tissue in different regions, with abundant collagen tissue and few tumor cells in some areas, similar to the structure of aponeuroses or ligaments, and tumor cells invading the surrounding tissues.CONCLUSIONDesmoid tumors of the extremities have certain imaging features on CT and MRI. The two imaging techniques can be combined to improve the diagnostic accuracy, achieve a comprehensive diagnosis of the disease in the clinical practice, and reduce the risk of missed diagnosis or misdiagnosis. In addition, their use can ensure timely diagnosis and treatment.     

Aggressive fibromatosis in the submandibular region of a child

Aggressive fibromatosis is proliferation of well‐differentiated fibroblasts. Submandibular region is rare location for fibromatosis. We report a case of a rapidly growing mass in submandibular region of 5‐year‐old girl, excised surgically and ascertained to be aggressive fibromatosis on histological examination. Recovery was uneventful, and she was disease‐free in 6‐month follow‐up.     

四肢侵袭性纤维瘤病的MRI表现

目的探讨四肢侵袭性纤维瘤病（AF）的磁共振成像（MRI）表现。方法回顾分析11例经手术病理证实的四肢AF的MRI表现,其中7例加做增强扫描。结果肿瘤在T1WI呈等信号11例;脂肪抑制FSET2WI高信号10例,1例为混杂信号;7例静脉注射GdDTPA后脂肪抑制SE T1WI明显强化。10例在所有序列均见到低信号带。8例边界不清,1例部分边界清楚,2例边界清楚,并可见完整的包膜。3例侵犯相邻骨质,其中1例累及髓腔;3例侵犯皮下脂肪。所有病变均未见坏死出血和囊变,瘤周未见水肿。结论四肢AF有不同于其他身体部位AF的MRI特征,MRI对四肢AF的诊断、术前规划和术后监测有重要意义。     

Intra‐abdominal desmoid tumor after laparoscopic low anterior resection for rectal cancer: A case report

Desmoid tumors are monoclonal fibroblastic proliferations arising from soft tissue classified as intra‐abdominal, extra‐abdominal and abdominal wall types. We present a patient with an intra‐abdominal desmoid tumor diagnosed 20 months after laparoscopic resection of rectal cancer. A 70‐year‐old woman with hematochezia was diagnosed with advanced rectal cancer. Preoperative chemoradiotherapy followed by laparoscopic low anterior resection was performed. During follow‐up, a nodular soft‐tissue density measuring 28 mm was detected in the presacral region. Metastasis from rectal cancer was diagnosed and four courses of chemotherapy were given, including capecitabine, oxaliplatin and bevacizumab. Computed tomography scan showed that the mass slightly decreased in size and surgical resection was performed. Histopathological examination revealed a proliferation of spindle‐shaped cells and collagenous stroma diagnosed as a desmoid tumor. This report highlights the possibility of a desmoid tumor in the differential diagnosis of an intra‐abdominal mass found during follow‐up after resection of colorectal cancer including following laparoscopic resection.