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.     

CT增强扫描对肠系膜纤维瘤病的诊断价值

目的：探讨肠系膜纤维瘤病(MF)的 CT 表现及价值。方法回顾性分析6例经手术病理证实的 MF 的 CT 表现,分析病灶数量、大小、密度、强化程度和方式及其与周围组织的关系。结果6例 MF 均表现为单发肿块(100%);6例病灶长径为2.0~8.5 cm,平均6.5 cm;CT 平扫示5例呈等密度(83.3%)、1例呈混杂密度(16.7%);CT 增强扫描示5例呈轻度强化(83.3%),1例呈中度强化(16.7%),4例呈不均匀强化(66.7%);病灶浸润周围组织4例(66.7%),周围肠管受压推移2例(33.3%);肠系膜血管包绕病灶5例(83.3%)。结论MF 的 CT 表现有一定的特点,尤其是肠系膜血管包绕病灶较具特征性,CT 增强扫描能够为 MF的诊断提供重要的信息。     

左股直肌韧带样型纤维瘤病1例

正患者,男,16岁。1个多月前无意中发现左大腿中上段包块,触之轻压痛,行走过多或者劳累后疼痛加重,活动部分受限,休息后疼痛缓解,未做特殊诊治。近日发现左大腿包块较前略有增大,肿胀伴疼痛,来我院就诊。查体:左大腿中上段轻度肿胀,局部皮肤完整,皮温正常,未见明显皮下出血点、蜘蛛痣及静脉曲张。左大腿中上段前外侧可触及一大小约11 cm×4 cm×2 cm的包块,质韧、     

Localized intra-abdominal fibromatosis of the small bowel mimicking a gastrointestinal stromal tumor： A case report

Intra-abdominal fibromatosis (IAF) is a benign mesenchymal lesion that can occur throughout the gastrointestinal tract. Although rare, it is the most common primary tumor of the mesentery and can develop at any age. We describe a rare case of primary IAF involving the mesentery and small bowel which clinically, macroscopically and histologically mimicked malignant gastrointestinal stromal tumor (GIST). This report highlights the fact that benign IAF can be misdiagnosed as a malignant GIST localized in the mesentery or arising from the intestinal wall. Their diagnostic discrimination is essential because of their very different biological behaviors and the fact that the introduction of effective therapies involving tyrosine kinase inhibitor STI571 (imatinib mesylate) has greatly changed the clinical approach to intra-abdominal stromal spindle cell tumors.     

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.     

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.     

Sorafenib in Dupuytren and Ledderhose Disease

Palmar and plantar fibromatosis are benign proliferative processes which present as a diffuse thickening or nodules of the hands and/or feet and may lead to flexion contractures, pain, and functional impairment known as Dupuytren and Ledderhose diseases, respectively. Current treatments are noncurative and associated with significant morbidity. Here, we report on the outcomes of 5 patients with advanced disease, no longer surgical candidates, treated with sorafenib. Sorafenib exhibited an expected safety profile. All 5 patients demonstrated objective responses as evaluated by a decrease in tumor size and/or tumor cellularity from baseline and all 5 patients reported subjective pain relief and/or functional improvement. Mechanistically, immunohistochemistry revealed patchy positivity for PDGFRβ, a known target of sorafenib. The outcomes of these 5 patients suggest the safety and efficacy of a relatively well-tolerated oral agent in the treatment of Dupuytren and Ledderhose diseases and suggest the need for future controlled studies.     

Novel intra‐genic large deletions of CTNNB1 gene identified in WT desmoid‐type fibromatosis

A wait and see approach for desmoid tumors (DT) has become part of the routine treatment strategy. However, predictive factors to select the risk of progressive disease are still lacking. A translational project was run in order to identify genomic signatures in patients enrolled within an Italian prospective observational study. Among 12 DT patients (10 CTNNB1‐mutated and 2 wild type) enrolled from our institution only two patients (17%) showed a progressive disease. Tumor biopsies were collected for whole exome sequencing. Overall, DT exhibited low somatic sequence mutation rate and no additional recurrent mutation was found. In the two wild type (WT) cases, two novel alterations were detected: a complex deletion of APC and a pathogenic mutation of LAMTOR2. Focusing on WT DT subtype, deep sequencing of CTNNB1, APC and LAMTOR2 was conducted on a retrospective series of 11 WT DT using a targeted approach. No other mutation of LAMTOR2 was detected, while APC was mutated in two cases. Low‐frequency (mean reads of 16%) CTNNB1 mutations were discovered in five samples (45%) and two novel intra‐genic deletions in CTNNB1 were detected in two cases. Both deletions and low frequency mutations of CTNNB1 were highly expressed. In conclusion, a minority of DT is WT for either CTNNB1, APC or any other gene involved in the WNT pathway. In this subgroup novel and hard to be detected molecular alterations in APC and CTNNB1 were discovered, contributing to explain a portion of the allegedly WT DT cases.