Efficacy of vinorelbine combined with low-dose methotrexate for treatment of inoperable desmoid tumor and prognostic factor analysis

Objective： To assess the efficacy of conservative chemotherapy for inoperable desmoid tumor（DT） and analyze the prognostic factors.Methods：From November 2008 to April 2016,71 patients of inoperable DT were treated with vinorelbine and low-dose methotrexate in the Department of Bone and Soft Tissue Tumors,Peking University Cancer Hospital＆Institute,and enrolled in this retrospective study.The chemotherapy duration is one year.The efficacy of chemotherapy and the prognosis were observed.Results：Of the 71 patients,55% were female.Age of onset varied from 1 to 47 years,and the median age was 14years.Only 11（15.5%）cases suffered primary tumor.The distribution of the site of tumors was：31（43.7%）in the trunk,36（50.7%）in the limbs,and 4（5.6%）in the peritoneal and pelvic cavity.The size of tumor（the maximum diameter）differed from 2 to 37 cm with a mean of 9.3 cm.The median follow-up duration was 28（range,6–87）months.Common side effects included：nausea and vomiting,liver injury,bone marrow suppression and oral ulcers.When the chemotherapy finished,1（1.4%）case achieved complete response,24（33.8%）achieved partial response,37（52.1%）achieved stable disease and 9（12.7%）had progressive disease.The overall response rate was 87.3%.The progression-free survival（PFS）of the participants were from 6 to 87 months,and the 2-,3-and 5-year PFS was 79.9%,68.4% and 36.3%,respectively.No significant difference was identified in PFS in subgroups of gender,age of onset,age of chemotherapy,tumor site and tumor size.Conclusions：For recurrent,inoperable and progressive DT,enough course of chemotherapy with vinorelbine combined with low-dose methotrexate was an optional choice for local control.

An unusual case of fatty liver in a patient with desmoid tumor

A desmoid tumor,also known as aggressive fibromatosis,is a rare benign neoplasm that arises from fascial or musculoaponeurotic tissues.It can occur in any anatomical location,most commonly the abdominal wall,shoulder girdle and retroperitoneum.The typical clinical presentation is a painless mass with a slow and progressive invasion of contiguous structures.It is associated with a high local recurrence rate after resection.Many issues regarding the optimal treatment of desmoid tumors remain controversial.Aggressive surgical resection with a wide margin(2-3 cm) remains the gold standard treatment with regard to preserving quality of life.Radiotherapy alone has been shown to be effective for the control of unresectable or recurrent lesions.Desmoid tumors tend to be locally infiltrative,therefore,the fields must be generous to prevent marginal recurrence.The radiation dose appropriate for treating desmoid tumors remains controversial.We present a 25-year-old Caucasian man with local recurrence of a desmoid tumor after repeated surgical resection,treated with radiotherapy.The patient achieved complete tumor regression at 4 mo after radiotherapy,and he is clinically free of disease at 12 mo after the end of treatment,with an acceptable quality of life.The patient developed short bowel syndrome as a complication of second surgical resection.Consequently,radiotherapy might have worsened an already present malabsorption and so led to steatohepatitis.

Postoperative retroperitoneal desmoid tumor mimics recurrent gastrointestinal stromal tumor:A case report

Desmoid tumor is a locally invasive,myofibroblastic,nonmetastatic tumor.Its pathogenesis remains unclear and it may involve genetic abnormalities,sex hormones and traumatic injury,including surgery.Postoperative intra-abdominal desmoid tumor is rare,especially in the retroperitoneum.We report a case of postoperative retroperitoneal desmoid tumor that developed 29 mo after the first excision of a gastrointestinal stromal tumor.Sporadic trauma-related intraabdominal desmoid tumors reported in the English literature are also reviewed.Despite an extremely low incidence,postoperative desmoid tumor should be considered in the differential diagnosis when a recurrent neoplasm is found at least one year after operation.However,it is a clinical challenge to distinguish recurrent malignant neoplasms from desmoid tumors,and surgical resection is the treatment option depending on the anatomic location.

Mandibular Reconstruction in Cervical Desmoid Tumors

Introduction: Desmoid tumors are benign soft tissue tumors, but their infiltration character is responsible for big morbidity, especially in the cervicofacial location. Their management, therefore, represents a real challenge. Clinical case: Reporting a case of a 4-year-old girl presenting a desmoid tumor at the expense of the mandibular corpus and the right ascending ramus, with loco-regional infiltration, and whose treatment consisted of surgical resection of the tumor with Hemi-mandibulectomy and reconstruction according to the Masquelet technique. Conclusion: The traditional treatment consists of a large local excision with negative surgical margins. Head and neck fibromatosis, while rare, present a complex problem as they are often aggressive, and invade local bone, nerve and muscles, and can leave patients with a cosmetic deformity. In our case, it was a mandibular reconstruction after a large resection of a desmoid tumor with a location on the head and neck. With good consolidation, absence of recurrence, and without aesthetic sequelae at the control.

Clinical and imaging features of desmoid tumors of the extremities

BACKGROUND Desmoid 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.AIM To investigate the clinical and imaging features of desmoid tumors of the extremities.METHODS Thirteen 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.RESULTS The 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.CONCLUSION Desmoid 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.

Pancreatic solid cystic desmoid tumor:Case report and literature review

Desmoid tumors(DTs)are nonmetastatic,locally aggressive neoplasms with a high rate of postoperative recurrence.Pancreatic DTs are especially rare;only a few cases have been reported to date.This paper describes a case of a sporadic cystic DT of the pancreas managed successfully with central pancreatectomy,with no signs of recurrence 40 mo after surgery.According to the literature,this is the first reported case in China of a pancreatic DT presenting as a solid cystic lesion,as well as the first pancreatic DT managed with central pancreatectomy and pancreaticogastrostomy.We report the case for its rarity and emphasize disease management by concerted application of clinical,pathological,radiological and immunohistochemical analyses.

Recurrent aggressive mesenteric desmoid tumor successfully treated with sorafenib: A case report and literature review

BACKGROUND Desmoid tumors(DT) are locally advanced but histologically benign monoclonal neoplasms that can occur from any musculoaponeurotic structure. The aim of this report is to analyze a rare clinical case of an aggressive intra-abdominal DT successfully treated with sorafenib.CASE SUMMARY A 36-year-old man presented with increasing colicky abdominal pain and a selfpalpable mass in his left abdomen. Fourteen years earlier he was diagnosed with a large intra-abdominal tumor, which adhered to the left colonic flexure, part of the major gastric curvature and the spleen. Subsequent exploratory laparotomy revealed a voluminous mass in the epigastrium, arising from the posterior surface of the stomach and invading the superior mesenteric vessels, transverse mesocolon and the small bowel mesentery. As the tumor was unresectable, a jejunojejunal bypass was performed. Traditional therapeutic interventions proved insufficient, and the patient was started on sorafenib with a subsequent fulldisease response.CONCLUSIONDT's pathogenesis has been associated with mutations in the adenomatous polyposis coli(APC) gene or beta-catenin gene CTNNB1, sex steroids or previous surgical trauma. Local treatment modalities, such as surgery or radiotherapy, are implemented in aggressively progressing or symptomatic patients. Sorafenib is a hopeful therapeutic option against DTs, while several pharmacological agents have been successfully used.

Intra-abdominal desmoid tumors mimicking gastrointestinal stromal tumors——8 cases: A case report

BACKGROUND Intra-abdominal desmoid tumors(DTs) can mimic recurrence or progression of gastrointestinal stromal tumors(GISTs). Differential diagnosis is important to avoid unnecessary or inappropriate treatment.CASE SUMMARY All 8 patients experienced surgical resection of GIST, and median time to diagnosis of DT was 1.8 years after surgical resection. All sites of DT were in the peritoneum around the surgical sites of GIST. The following clinical suspicion coupled with radiological findings contributed to the suspicion of intraabdominal DTs:(1) Occurrence of a new single lesion in the peritoneum around the surgical sites of GIST;(2) uncontrolled lesion with imatinib while other lesions being controlled with imatinib;(3) well-defined ovoid shaped lesion with delayed or mild enhancement and absence of necrosis, hemorrhage, and cystic change on computed tomography; and(4) a lesion showing mild or no hypermetabolic activity on 18 fluorodeoxyglucose-positron emission tomography,contrary to initially hyperactive lesion of GIST. All DTs were surgically removed except for one unresectable DT and only one DT recurred at another site of peritoneum, which was also surgically removed.CONCLUSION Intra-abdominal DT should be a differential diagnosis for a new single lesion in patients with GIST.

Desmoid Tumor Causing Hip Joint Contracture: A Case Report

Desmoid tumor (DT) is a relatively uncommon, cytologically bland fibrous neoplasm that is associated with possibility of local recurrence but without the potential to spread to other parts of the body. This disease affects mostly younger adults and is the most common cause of abdominal wall masses in women 20 - 35 years of age. However, it may involve nearly every body part, including the extremities, head and neck, trunk, and abdominal cavity;as such, patients with DT may present to a range of general and subspecialty radiologists. The consensus for treatment has changed over the past decade, with most centers moving away from primary radical surgery towards a front-line “wait-and-see” policy. Here, we present a case of a tumor mass that induced hip joint contracture. DT does not usually cause functional disorder. Oncologists should be aware that a desmoid tumor can cause hip joint contracture if the mass occurs in the gluteal region. Moreover, DT resulting in such a functional disorder should be treated by resection.

Desmoid tumor in a laparotomy scar in a child: Case report and brief literature review

Desmoid tumors are rare neoplasms arising at the site of any fascia. Although histologically benign, they can cause local infiltration and they also carry a risk of recurrence. We describe the case of an 11-year-old girl who presented with a desmoid tumor at the site of an old trauma, and we briefly review the literature of this lesion.

Sporadic Desmoid Tumor of the Small Bowel Mesentery in a Male Patient: A Case Report and Literature Review

Aggressive fibromatosis arising from the small bowel mesentery is extremely rare. It may occur in association with previous trauma, abdominal surgery, drugs, Gardner’s syndrome, or familial adenomatous polyposis. This paper presents a 32-year-old man with no significant medical or surgical history, complaining of diffuse abdominal pain and discomfort. His computed tomography scan revealed a well-defined soft tissue mass in the peritoneal cavity. He underwent surgical excision of the mass with resection and anastomosis of the involved loop of the small intestine. Histological examination confirmed mesenteric fibromatosis without infiltration of the bowel. The patient remained well during the 8 months follow-up.

Desmoid Tumor of the Breast as a Manifestation of Gardner’s Syndrome in an Elderly Woman: A Case Report and Review of Literature

Desmoid tumor of the breast is an extremely rare entity. Histologically, it corresponds to a benign fibroblastic proliferation of a local evolution, with a high recurrence potential. We report the first case of elderly woman presented with desmoid-tumor of the breast as a manifestation of Gardner’s syndrome. A brief literature review was provided. We report the case of a 72-year-old woman who presented with five months history of painful and an exophytic mass of her left breast. She is known to have familial polyposis and had a total colectomy with Gardner’s syndrome. She had a history of osteomas of the maxilla. On clinical examination, there was an exophytic painless mass, on the upper medial quadrant of the breast. She had also lipoma in the left leg and pigmented skin lesions in legs. Her mammograms showed a suspicious stellar image. A computed tomography scan showed an ovoid lesion. Excision of the lesion was performed. Histopathology confirms a desmoid-tumor of the breast. Evolution was marked by lesion recurrence. In conclusion, desmoid tumor of the breast is rare, non-metastatic but locally aggressive. Clinical expression is often nonspecific. Treatment remains controversial;surgical excision is the treatment of choice.

Desmoid Tumor Mimicking Port Site Recurrence after Laparoscopic Retroperitoneal Lymph Node Dissection for Metastatic Testicular Tumor: A Case Report

Background: Desmoid tumor is a rare benign soft tissue tumor which commonly affects the trunk and extremities. Case presentation: We report a patient who presented with a tumor that slowly grew at the left lower abdominal port site 1 year after post-chemotherapy laparoscopic retroperitoneal lymph node dissection (RPLND) for metastatic testicular tumor. The enlarging mass mimicking port site recurrence after laparoscopic retroperitoneal lymph node dissection for metastatic testicular tumor was diagnosed as a desmoid tumor. Conclusion: To our knowledge, this is the first report of a desmoid tumor that developed after laparoscopic RPLND for a testicular tumor.

Aggressive fibromatosis of the sigmoid colon:A case report

BACKGROUND Aggressive fibromatosis(AF),also known as desmoid tumor or desmoid-type fibromatosis,is a rare soft tissue neoplasm that can occur in almost any part of the body.Although it is a benign disease,AF is aggressive and infiltrative and has a high recurrence rate after surgery.Common sites for intra-abdominal AF are the small bowel mesentery,retroperitoneum,and pelvis.AF in the colon is extremely rare.CASE SUMMARY Here,we report the first case of sigmoid colon AF,which was accidentally discovered in a 27-year-old woman during laparoscopic myomectomy.Computed tomography confirmed a slightly enhanced mass in the sigmoid colon.Subsequent colonoscopy did not reveal a mass in the colonic lumen,but a suspected external compress was found in the sigmoid colon.Surgical disease involving a gastrointestinal stromal tumor was suspected.The patient underwent laparoscopic exploration,and sigmoidectomy with a negative margin was performed to excise the mass.Postoperative immunohistochemistry revealed that the mass was an AF.The patient recovered well and was recurrence-free at the 30-month follow-up without adjuvant therapy.CONCLUSION AF should be considered in the differential diagnosis of subepithelial colon masses.Radical resection alone can achieve good outcomes.

硬纤维瘤的分子发病机制和治疗进展

硬纤维瘤(desmoidtumor,DT)是一种罕见的局部侵袭性肿瘤,无转移能力,但具有浸润性生长及局部复发的倾向,可严重影响患者功能,造成沉重的临床负担甚至死亡。近20年来,该病的治疗理念发生了巨变,从传统的积极手术转变为以主动监测为一线治疗的保守策略,治疗手段也更加丰富,呈现多学科管理的发展趋势。相关研究指出DT的发病与Wnt及Notch信号通路失调有关,以nirogacestat为代表的多款针对其发病机制的新型药物正在研发中,有望成为该病未来治疗的新方向。本文就DT的分子发病机制和治疗进展进行综述,为该病的临床治疗及未来研究提供依据和方向。

Desmoid type fibromatosis: A case report with an unusual etiology

Desmoid type fibromatosis(DTF) is a rare, locally invasive, non-metastasizing soft tissue tumor. We report an interesting case of DTF involving the pancreatic head of a 54-year-old woman. She presented with intermittent dysphagia and significant weight loss within a 3-mo period. Laboratory findings showed mild elevation of transaminases, significant elevation of alkaline phosphatase and direct hyperbilirubinemia, indicating obstructive jaundice. Computerized tomography of the abdomen revealed a mass in the head of the pancreas, dilated common bile duct, and dilated pancreatic duct. Endoscopic retrograde cholangiopancreatography and endoscopic ultrasound showed a large hypoechoic massin the head of the pancreas causing extrahepatic biliary obstruction and pancreatic ductal dilation. The patient underwent a successful partial pancreatico-duodenectomy and cholecystectomy. She received no additional therapy after surgery, and liver function tests were normalized within nine days after surgery. Currently, surgical resection is the recommended first line treatment. The patient will be followed for any recurrence.

带蒂股前外侧穿支皮瓣移植术修复儿童臀部硬纤维瘤切除后皮肤软组织缺损1例并文献分析

目的结合文献探讨带蒂股前外侧穿支皮瓣移植术修复臀部硬纤维瘤切除后皮肤软组织缺损的疗效。方法回顾性分析湖南省儿童医院骨科2020年11月收治的1例臀部硬纤维瘤患儿临床资料,收集肿块情况以及肿块切除后皮肤软组织缺损大小、带蒂股前外侧穿支皮瓣修复后皮瓣存活情况以及髋关节功能。以"pedicled anterolateral perforator thigh flap"、"soft tissue defect of hip"为检索词,检索PubMed数据库相关英文文献;以"带蒂股前外侧皮瓣"、"臀部皮肤软组织缺损"为检索词,检索中国知网、万方数据库中相关中文文献;检索时间自1970年1月至2022年12月,排除综述、信件、会议摘要后进行文献复习。结果本例患儿臀部硬纤维瘤大小15 cm×8 cm×6 cm,手术后臀部皮肤软组织缺损大小15 cm×6.5 cm,切取带蒂股前外侧穿支皮瓣大小15 cm×6.5 cm,采取供区直接缝合,受区无需植皮,术后皮瓣存活,未见血管危象;出院后随访24个月,臀部硬纤维瘤未见复发,供区愈合良好;无肌疝,受区皮瓣颜色、质地良好,患肢髋、膝关节活动未见受限。共检索到符合纳入标准的文献2篇,均为个案报道,共2例带蒂股前外侧穿支皮瓣移植修复臀部软组织缺损,均为男性,1例采用双侧带蒂股前外侧穿支皮瓣移植,皮瓣大小分别为35 cm×8 cm和22 cm×7 cm;另外1例切取大小29 cm×20 cm,受区部分植皮;2例术后随访皮瓣均存活,皮瓣质地良好,未见髋关节活动受限。结论带蒂股前外侧穿支皮瓣移植修复臀部皮肤软组织缺损是一种有效、可行的治疗方法。

硬纤维瘤治疗策略的变化及新进展

硬纤维瘤是一种罕见的中间性肿瘤,可侵袭性生长、罕见恶变、不会转移。对于该病,传统的治疗理念是手术切除。但近年来,该病的治疗理念发生了巨大变化,治疗策略越来越趋向于保守,不仅体现在药物治疗地位的提高,手术、放疗地位的下降,更体现在密切监测作为一线治疗策略取代了以往确诊即治疗的理念。新的药物及新的治疗方法逐渐涌现,为硬纤维瘤患者提供了更多的治疗选择。

Gardner综合征1例报告

背景Gardner综合征(gardner syndrome,GS)是一种罕见的常染色体显性遗传性疾病,累及多个系统,临床表现多样,容易漏诊误诊.本文总结了该例患者的临床特点、诊疗经验,以期加强临床医师对GS的认识.病例简介本文报道1例38岁的女性GS患者,因间断腹胀、恶心、呕吐15 mo,加重1 wk来院,相关检查示肠道腺瘤、腹壁及腹腔多发硬纤维瘤,基因测序证实该疾病诊断.对其行内镜下肠息肉切除及对症治疗,患者上述症状缓解.后患者上述症状复发,并较前加重,至外院行胃肠吻合术,术后恢复良好,目前无恶心、呕吐等症状.结论GS临床变现多样,肠外表现多早于肠息肉出现,对于患者的早期识别至关重要,从而尽早治疗,提高预后.

肠系膜韧带样纤维瘤病患者临床病理学分析

9例肠系膜韧带样纤维瘤病患者于2010年1月至2022年5月就诊于温州医科大学附属台州医院,其中男性7例,女性2例,年龄16~59岁;肿瘤位于小肠系膜7例,回盲部系膜1例,横结肠系膜1例;肿瘤最大径3.5~33.0 cm,平均(10.7±8.5)cm,无包膜,界不清,部分病例侵犯肠肌壁组织,切面呈实性,灰白色,质韧。组织病理学检查见梭形的纤维母细胞及肌纤维母细胞平行状、束状或交错排列,埋于大量细胞外胶原内,细胞形态较一致,无明显异型性,核分裂象少见。免疫组织化学检测结果显示,9例患者的肿瘤细胞波形蛋白、β联蛋白均阳性,5例患者α-平滑肌肌动蛋白阳性,Ki-67阳性指数为1%~10%,广谱细胞角蛋白、S-100蛋白、信号转导及转录激活蛋白6、CD117、DOG1、CD34、结蛋白和间变性淋巴瘤激酶均阴性。7例存在CTNNB1基因c.121G>A(p.Thr41Ala)突变,1例c.121G>A(p.Thr41Ala)和c.134C>T(p.Ser45Phe)双突变,1例为野生型。9例患者均接受手术切除,8例无复发及转移;1例半年后复发,再次手术切除后无复发及转移。