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 larynx: case report and brief review

Aggressive fibromatosis is a rare, benign, fibroblastic neoplasm, characterized by local invasion and a relatively high rate of recurrence. Here a case of laryngeal aggressive fibromatosis in a 47-year old man is reported. The patient presented with worsening dyspnoea and hoarseness and was hospitalized for treatment with partial laryngectomy. Final pathological evaluation of the tumour confirmed a diagnosis of aggressive fibromatosis. The patient has remained disease-free without further treatment for 5 years. This study demonstrated that aggressive fibromatosis may occur around the larynx and can be managed by partial laryngectomy alone. It is, therefore, important to include this rare disease entity in the routine differential diagnosis of laryngeal masses.     

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。     

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.     

Contrast-enhanced ultrasound of breast fibromatosis: a case report

We herein present a rare case of breast fibromatosis, the contrast-enhanced ultrasonography (CEUS) findings of which we believe have never been described. The high similarity between the clinical and imaging manifestations of breast cancer makes its differential diagnosis difficult. In this report, we describe the CEUS findings of a less common type of fibromatosis, discuss the potential value of CEUS to differentiate it from malignant breast lesions, and briefly review the literature.     

MESENTERIC FIBROMATOSIS

SUMMARY Mesenteric fibromatosis is commonly associated with Gardner's syndrome and familial polyposis. These lesions may have an insidious onset via compression of the small or large intestines, or may be noted for the first time during abdominal exploration for some other cause. Differential diagnosis may be difficult. We report a case of mesenteric fibromatosis with two recurrences, and two cases with no evidence of tumour recurrence.     

Desmoid Tumors: A Review of Their Natural History,Imaging, and Treatment

Desmoid tumors are uncommon neoplasms that are also termed desmoid-type fibromatosis and aggressive fibromatosis. Although desmoids lack metastatic potential, they often exhibit aggressive local invasion. Desmoid tumors have a typical but nonspecific appearance on multiple imaging modalities, including computed tomography, magnetic resonance imaging, and ultrasound. Radiology plays an integral role with imaging and intervention in the management of these tumors as their location and relationship to adjacent structures determines the optimal treatment pathway. Currently, the standard of care for the management of desmoid tumors begins with a conservative observational approach, with additional interventions, such as surgery, radiation, systemic therapy, or alternative therapies used depending on the behavior of the individual desmoid tumor. Although not malignant, desmoid tumors can have serious medical and psychological implications for patients.     

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。     

Imaging features of aggressive fibromatosis in psoas muscle

Aggressive fibromatosis (AF) of psoas muscle origin is extremely rare and little is known about its radiological features. We here present such a case in a 24-year-old man with psoas AF and ilium bone involvement. The authors stress the contibutive diagnostic role of MRI.     

Sonographic findings in a patient with neurofibromatosis type 1 and a gastrointestinal stromal tumor

Gastrointestinal stromal tumors (GIST) have been suggested to be the most common neurofibromatosis 1‐associated gastrointestinal tumors. This case report describes and compares US and CT findings of both abdominal neurofibromas and a gastrointestinal stromal tumor. On US, the GIST appeared as a well‐defined inhomogeneous lesion with a target‐like pattern similar to CT. The neurofibromas appeared as well‐demarcated round nodules with a relatively homogeneous hypoechoic internal structure and were accompanied by subtle posterior acoustic enhancement. US and CT were able to differentiate between neurofibromatomas and GIST in this neurofibromatosis 1 patient; however, a biopsy of the suspicious mass was performed to clarify the diagnosis. © 2010 Wiley Periodicals, Inc. J Clin Ultrasound 2010     

Solitary intracranial plasmacytoma located in the spheno-clival region mimicking chordoma: a case report

Solitary intracranial plasmacytoma (SIP) is very rare. This case report presents serial findings of SIP located in the spheno-clival region in a 54-year old female who presented with an inferior hemianopia in the right eye and an enlarged physiological blind spot in both eyes. Based on the initial diagnosis of a spheno-clival region chordoma, the tumour was partially resected by the nasal-sphenoidal sinus approach. Subsequently, the correct diagnosis of SIP was made based on the pathology and immunohistochemical staining of the tumour. The patient was treated using a whole skull-base radiation therapy protocol with 45 Gy and she was in good physical condition during the subsequent 22 months. The findings of a series of similar case reports documenting SIP in 20 cases published from 1976 to 2008 are also reviewed. Based on these case reports, the key features of SIP, including their clinical manifestations, clinical imaging characteristics, treatment and prognosis, are described.     

Nora’s lesion of the distal ulna: a case report

Nora’s lesion, also known as bizarre parosteal osteochondromatous proliferation (BPOP), is a very rare benign lesion with few published cases. BPOP is more common in adults during the second to third decades of life, and usually occurs on the hands and feet. Radiologically, it appears as a calcified mass attached to the bone cortex that grows rapidly and that recurs easily following resection. Aggressive features on imaging and confusing histopathological findings usually result in misdiagnosis or mistreatment. Herein, we present a case of a rare bony tumour involving the distal ulna presenting as a painless growing mass. An excisional biopsy with clear margins was performed without disturbing the ulnar nerve and arteries. There was no recurrent mass or calcified lesion 1 year after surgery. Based on its rarity and difficult diagnosis, BPOP should be considered in the differential diagnosis of a painless mass in the distal ulnar region. Careful follow-up after surgery is essential, even without lesion recurrence.     

Aggressive angiomyxoma of the vulva: case report and literature review

Aggressive angiomyxoma is a rare softtissue tumour, typically occurring in the female pelvis and carrying a high risk of local infiltration and relapse. Surgery remains the first line of treatment, however some adjuvant treatments, such as gonadotrophin-releasing hormone (GnRH) agonists, have been used for primary treatment and for treatment against tumour recurrence. We describe a case of vulvar aggressive angiomyxoma in a 31-year old woman who underwent surgical excision of the tumour. Diagnosis was made on the basis of histopathological examination and positive immunohistochemical staining with oestrogen and progesterone receptors. Postsurgery, a GnRH agonist (3.75 mg triptorelin) was injected intramuscularly every month for 3 months to prevent tumour recurrence and, to date, no relapse has been observed. Whether treatment is with surgery, hormone therapy or both, it is clear that aggressive angiomyxoma requires close, long-term follow-up to monitor for disease recurrence and that the individualization of each case is essential for adequate management.     

Epithelioid leiomyosarcoma of the vulva: report of a rare case and literature review

Leiomyosarcoma of the vulva is a rare soft tissue sarcoma that accounts for approximately 1% of all primary vulvar neoplasms, but it is the most common type of vulvar sarcoma. It usually originates from the smooth muscle within erectile tissue or blood vessel walls, the round ligament, the dartos muscle or the arrector pili muscle. No treatment algorithms have been established to date. Surgical resection is preferred for vulvar leiomyosarcoma. Currently, the recommended surgical method is extensive local resection with a safe surgical margin of at least 2 cm. The use of chemoradiotherapy for vulvar sarcoma remains controversial. This case report describes a 39-year-old female that underwent resection of a vulvar mass in January 2019. Postoperative pathological examination indicated that it was an epithelioid leiomyosarcoma. She presented with tumour recurrence after 43 days. Based on the diagnosis, radical right vulvectomy with a tumour margin of 2 cm was performed. The tumour margin was negative. The patient refused to undergo auxiliary radiotherapy and chemotherapy. The follow-up findings do not indicate any signs of recurrence. In order to avoid recurrence, vulvar epithelioid leiomyosarcomas should be completely resected with a margin of 2 cm at the time of first occurrence.     

Paratesticular aggressive fibromatosis: CT findings

Aggressive fibromatoses commonly originate from the musculoskeletal system, mesentery, and retroperitoneum. We report a case of aggressive fibromatosis arising from the spermatic cord. On helical computed tomography, the lesion appeared as a solid mass with well-defined borders in the scrotum and with infiltrative features in the retroperitoneum. Received: 20 April 1999/Accepted: 2 June 1999     

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.     

Sarcoma

Sarcomas comprise a heterogeneous group of mesenchymal neoplasms. They can be grouped into 2 general categories, soft tissue sarcoma and primary bone sarcoma, which have different staging and treatment approaches. This review includes a discussion of both soft tissue sarcomas (malignant fibrous histiocytoma, liposarcoma, leiomyosarcoma, synovial sarcoma, dermatofibrosarcoma protuberans, angiosarcoma, Kaposi sarcoma, gastrointestinal stromal tumor, aggressive fibromatosis or desmoid tumor, rhabdomyosarcoma, and primary alveolar soft-part sarcoma) and primary bone sarcomas (osteosarcoma, Ewing sarcoma, giant cell tumor, and chondrosarcoma). The 3 most important prognostic variables are grade, size, and location of the primary tumor. The approach to a patient with a sarcoma begins with a biopsy that obtains adequate tissue for diagnosis without interfering with subsequent optimal definitive surgery. Subsequent treatment depends on the specific type of sarcoma. Because sarcomas are relatively uncommon yet comprise a wide variety of different entities, evaluation by oncology teams who have expertise in the field is recommended. Treatment and follow-up guidelines have been published by the National Comprehensive Cancer Network (www.nccn.org).     

Endogenous strangulation caused by fibromatosis colli

The case report is presented of fatal endogenous strangulation of a seven week-old male infant due to a fibrous sternomastoid tumour. Postmortem examination showed severe congestion of the cerebral veins and conjunctiva with ecchymoses just like after use of concentric force against cervical viscera. On the basis of the results of the histological examination, the possible influence of birth trauma on the aetiology of this type of fibromatosis is discussed.     

Laparoscopic excision of abdominal wall desmoid tumor

Open surgical resection is the mainstay treatment for desmoid tumors. Laparoscopic resection is rarely used and not well described in the literature. We report a case of a single, 35‐year‐old woman who presented with palpable abdominal wall desmoid tumor. The patient had had laparoscopic cholecystectomy 2 years earlier, and the tumor was at the insertion site of the right upper quadrant trocar. The diagnosis was made by a Tru‐Cut biopsy at another institution, after the lesion had increased in size and caused increased discomfort. The patient underwent successful laparoscopic resection of the tumor. This report aimed to promote laparoscopic resection of abdominal wall desmoid tumors, whenever feasible, and describe the laparoscopic technique. We believe this is the second case of laparoscopic excision of desmoid tumor reported in the English‐language literature.