Desmoid Fibromatosis Research Articles

This study aimed to describe the characteristics of superficial desmoid fibromatosis (DF) using two-dimensional and contrast-enhanced ultrasonography, intending to improve diagnostic accuracy. We retrospectively analyzed 19 cases of superficial DF confirmed by surgery or core-needle biopsy in our hospital from January 2018 to August 2020. All patients underwent two-dimensional and contrast-enhanced ultrasound (CEUS) examination. Nineteen patients included 15 women and 4 men, with an average age of 33.37±12.13 years old. The mean size of lesions was 4.78±1.99 cm. On ultrasound, all lesions presented as solitary heterogeneous hypoechoic masses; 13 presented with ill-defined margins. Ten lesions (52.63%) presented with fusiform shapes, and 11 lesions (57.89%) presented with the “fascial tail” sign. CEUS suggested the tumors were hyperenhanced, with an enhanced pattern of rapid wash-in and slow wash-out. Four lesions (21.05%) showed an enlarged scope in the CEUS image compared with the grayscale ultrasound image. In conclusion, an ill-defined heterogeneous hyperechoic appearance with fusiform-shaped and “fascial tail” signs on US and heterogeneous hyperenhancement with an enlarged scope on CEUS are valuable clues in the diagnosis and treatment of superficial DF.

Desmoid Type Fibromatosis of the Breast: A case report

A diverse group of both benign and malignant spindle cell tumors can involve the pleura or the peritoneum. Due to their rarity and overlapping morphologic features, these tumors can pose considerable diagnostic difficulty in surgical pathology. As these tumors differ in their prognosis and clinical management, their correct pathologic diagnosis is critical. In addition to histologic assessment, select immunohistochemical and molecular tools can aid the distinction among these tumors. In this review, we consider some of the major histologic differential diagnosis of spindle cell tumors involving these serosal membranes. This list of tumors includes solitary fibrous tumor, inflammatory myofibroblastic tumor, desmoid fibromatosis, synovial sarcoma, sarcomatoid carcinoma, spindle cell melanoma, dedifferentiated liposarcoma, epithelioid hemangioendothelioma, and sarcomatoid mesothelioma. We describe their salient clinicopathologic and genetic findings, with a review on some of the recent discoveries on their molecular pathogenesis.

The aim of this study was to determine the prognostic factors for recurrence in patients with extra-abdominal desmoid tumors (EDTs) treated surgically. This single-institution, retrospective study included patients with a histologically-proven extra-abdominal desmoid tumor between 2007 and 2018. The demographic characteristics (age, sex) of the patients, tumor characteristics (region, size, proximity to neurovascular structures, margins), treatment management (surgery and/or adjuvant radiotherapy), and clinical results were analyzed. The effects of these possible prognostic factors on overall and disease-free survival rates and the risk of local recurrence were evaluated. Evaluation was made of 22 patients (16 females, 6 males) with a mean age at diagnosis of 34.7 years (range = 22-76 years). The mean follow-up was 104 months (range = 4.8-168). Tumor localization was in the upper extremity in 4 patients (18.1%), the lower extremity in 11 (50.0%), and the trunk in 7 (31.8%). The mean tumor size (maximum diameter) was 5.2 cm (range = 0.6-13 cm; median = 5.8 cm), and the mean tumor volume was 181.3 ± 531.4 ml. All the 22 patients were treated surgically along with adjuvant radiotherapy (RT) administered to 8 in addition to surgery for the primary treatment of the tumor. Following primary surgery, resection margins were R0 in 11 patients, R1 in 9 and R2 in 2. Local recurrence (LR) developed in 6 patients (27.2%) during the follow-up period. Recurrence-free survival rate (RFS) was 90.9% at one year, 74.1% at 5 years, and 61.7% at 10 years. During the follow-up, no patient died, and distant metastasis was not detected. Tumor length, resection margins, and adjuvant RT were observed to influence the risk of local recurrence (P < 0.05). The results of this study have demonstrated that tumor size ≥ 5 cm and the presence of microscopic or macroscopic positive surgical margins can increase the risk of LR, and adjuvant RT can reduce the development of LR in the management of EDT.

Most pelvic tumors originate from the organs. Less commonly, tumors can arise from the various anatomic pelvic compartments and are comprised of mesenchymal tissue: muscles, connective tissue, vessels, lymphatics, and fat. Among some of the rarer entities are benign tumors (eg, angiomyxoma, cellular angiofibroma, and desmoid fibromatosis), malignant tumors (eg, sarcoma), and tumors that can manifest as benign or malignant (eg, solitary fibrous tumor or nerve sheath tumor). Because these tumors are uncommon and often manifest with nonspecific clinical features, imaging (usually MRI) is an initial step in the evaluation. Radiologists interpreting these images are asked to help narrow the differential diagnosis and assess the likelihood of malignancy for treatment planning. Thus, the MRI report should include the imaging features that would indicate the underlying tissue histology for pathologic diagnosis as well as a description of the anatomic extent and pattern of growth. The authors describe multiple locally aggressive benign and malignant mesenchymal tumors and highlight characteristic clinical and imaging features that enable the radiologist to narrow the differential diagnosis. The anatomic spaces of the pelvis are reviewed with illustrations to aid the radiologist in describing these tumors, which often span multiple pelvic compartments. Tumor appearance at T2-weighted, diffusion-weighted, and postcontrast MRI is summarized and illustrated with correlation at CT or fluorodeoxyglucose PET/CT, when available. MRI features that correspond to specific types of tissue (eg, myxoid, fibrous, or vascular) are highlighted and correlated with images from pathologic evaluation. Online supplemental material is available for this article.©RSNA, 2021.

Neuromuscular choristoma (NMC) are lesions of the peripheral nervous system characterized by an admixture of skeletal muscle fibers and nerves fascicles that are frequently associated with desmoid fibromatosis (DF). Mutations in CTNNB1, the gene for β-catenin protein, are common in DF and related to its pathogenesis. They are restricted to exon 3, with 3 point mutations: T41A, S45F, and S45P. To understand the pathogenesis of NMC, we tested CTNNB1 status in 5 cases of NMC whether or not they were associated with DF. The screening of mutations in CTNNB1 gene was based on amplicon deep sequencing using the ION Proton platform. Three patients had the S45F mutation; in 2 the mutation was common to both lesions and in one the DF was wild type while the NMC had the S45F mutation. One patient had a T41A mutation in the NMC and no associated DF. In the last patient, the DF lesion had a T41A mutation; there was no lesion with the S45P mutation. The presence of similar CTNNB1 mutations in NMC/DF-associated lesions and sporadic DF reinforces the relationship between both lesions and points to a common pathogenic mechanism.

1537P Dissecting inflammation in patients with desmoid fibromatosis to identify prognostic biomarkers

Desmoid fibromatosis is a rare tumor of locally aggressive nature and associated with a high risk of recurrence. Although it possesses benign morphologies such as the absence of necrosis and atypical mitoses, it is classified as an intermediate malignant neoplasm due to its potential of infiltrating into the adjacent structures and the high rate of local recurrence even after excision. A 22-year-old unmarried female came with the complaint of abdominal pain and lump. The preoperative diagnosis was in favor of ovarian leiomyosarcoma but to the surprise intraoperative, tumor was found to be arising from mesentery of ileum. Following the complete resection, tumor was sent for histopathology. The histopathology examination report along with immunohistochemistry was suggestive of desmoids fibromatosis. Mesenteric desmoids fibromatosis is a rare tumor. It should be differentiated from gastrointestinal stromal tumor, leiomyoma, leiomyosarcoma, neurofibroma, and solitary fibrous tumor because of its completely different management and outcome. Histopathology and immunohistochemistry is the key for its diagnosis.

Purpose To determine whether MRI volumetric and image texture analysis correlates with treatment-induced biologic changes in desmoid fibromatosis (DF) earlier than conventional response criteria. Materials and Methods This retrospective study included 27 patients with histologically proven extra-abdominal DF who were managed with active surveillance or systemic therapy (from 2004 to 2016). MRI volumetric and image texture parameters were derived from manual tumor segmentations, and tumor signal intensity was normalized to muscle. Results were compared with objective response rates based on Response Evaluation Criteria in Solid Tumors (RECIST) version 1.1, World Health Organization (WHO) lesion response, volumetrics, and MRI-modified Choi criteria. Correlation coefficients (r) between image texture features and maximum tumor diameters were obtained by using a meta-analysis approach. Results The 27 included patients (mean age, 39 years; 74% women) were followed for an average of 4 years, comprising 207 distinct time-point assessments. The mean baseline tumor maximum diameter was 7.9 cm (range, 3.4-15.2 cm). Partial response (PR) rates as best response were 37%, 44%, 70%, and 81% by RECIST, WHO, volumetrics, and MRI-modified Choi criteria, respectively. Among the 10 tumors showing RECIST PR, a preceding MRI-modified Choi PR was observed in 70% (seven of 10), on average 1.3 years earlier. Multiple image texture parameters showed associations with objective measurements of tumor diameter including mean tumor-to-muscle signal ratio (r = 0.51; P = .004), median tumor-to-muscle signal ratio (r = 0.52; P = .003), energy (r = 0.48; P < .001), run entropy (r = 0.32, P = .04), and gray-level nonuniformity (r = 0.54; P ≤ .001). Conclusion Volumetric signal and image texture assessment allows more comprehensive analysis of DF biologic change and may permit early prediction of DF behavior and therapeutic response. Keywords: MR Imaging, Soft Tissues/Skin, Neoplasms-Primary © RSNA, 2021.

Fibromatoses encompass a broad group of histopathologically similar fibroblastic/myofibroblastic proliferations with divergent clinical manifestations and behavior. Deep (desmoid-type) fibromatoses are typically large, rapidly growing, and locally aggressive tumors that occur in the abdominal wall, mesentery, and extra-abdominal soft tissue, principally the musculature of the trunk and extremities. Most sporadic cases of desmoid fibromatosis harbor inactivating mutations in CTNNB1, the gene encoding beta-catenin. Tumors occurring in the context of familial adenomatous polyposis and Gardner syndrome bear inactivating mutations in APC. By contrast, mutations in CTNNB1 or APC have not been identified in cases of superficial fibromatosis. Cutaneous involvement by desmoid fibromatosis is exceedingly rare. Here we present a 78-year-old male with desmoid-type fibromatosis arising in the dermis of the right medial calf with a pathogenic mutation in CTNNB1 and a variant of unknown significance in APC.

11574 Background: Desmoid type fibromatosis (DTF) is a rare benign neoplasm with infiltrative growth and high local recurrences. Due to long disease course, unpredictable growth pattern, and low mortality, using only survival outcomes may be inappropriate. In this study we assessed the impact of DTF on health related quality of life (HRQoL). Methods: This was a cross-sectional study done in patients with DTF. The study participants were asked to fill the EORTC QLQ-C30, GAD-7 and PHQ- 9 q uestionnaires to assess HRQoL, anxiety and depression . Outcomes were also compared with healthy controls. Results: 204 subjects (102 DTF patients and 102 healthy controls) were recruited. Study parameters have been summarized in Table. Appendicular skeleton (limbs + girdle) was most commonly involved in 59 % patients and abdominal wall or mesentery was involved in 22.5 %. Patients have received median of 2 lines of therapy. 54 % patients were currently on sorafenib and 41 % were under active surveillance. Mean global health status in DTF patient 65.58 ± 22.64, was significantly lower than healthy controls. Similarly, DTF patients scored low on all functional scales except cognitive functioning. Symptom scale showed significantly higher symptom burden of fatigue, pain, insomnia and financial difficulties. Anxiety &amp; depression was observed in 39.22 % and 50 % of DTF patients respectively. DTF patients had higher rates of mild, moderate and severe anxiety and depression compared to healthy controls. No difference was observed based on site of disease. Conclusions: DTF patients have significant symptom burden, poor functioning, and heightened anxiety and depression. Patient reported outcomes should be routinely used to assess treatment efficacy in DTF patients.[Table: see text]

What is the best front-line approach in patients with desmoid fibromatosis? – A retrospective analysis from a reference center

BackgroundExtra-abdominal desmoid tumor fibromatosis (DTF) is a rare, locally aggressive soft tissue tumour. The best treatment modality for this patient cohort is still object of debate.Questions/purposeThis paper aimed to (1) to compare the outcomes of DTF after different treatment modalities, (2) to assess prognostic factors for recurrence following surgical excision, and (3) to assess prognostic factors for progression during observation.MethodsThis was a retrospective multicenter study under the patronage of the European Musculoskeletal Oncology Society (EMSOS). All seven centres involved were tertiary referral centres for soft tissue tumours. Baseline demographic data was collected for all patients as well as data on the diagnosis, tumour characteristics, clinical features, treatment modalities and whether they had any predisposing factors for DTF.ResultsThree hundred eighty-eight patients (240 female, 140 male) with a mean age of 37.6 (±18.8 SD, range: 3–85) were included in the study. Two hundred fifty-seven patients (66%) underwent surgical excision of ADF, 70 patients (18%) were observed without therapy, the residual patients had different conservative treatments. There were no significant differences in terms of tumour recurrence or progression between the different treatment groups. After surgical excision, younger age, recurrent disease and larger tumour size were risk factors for recurrence, while tumours around the shoulder girdle and painful lesions were at risk of progression in the observational group.ConclusionLocal recurrence rate after surgery was similar to progression rates under observation. Hence, observation in DTF seems to be justified, considering surgery in case of dimensional progression in 2 consecutive controls (3 and 6 months) and in painful lesions, with particular attention to lesions around the shoulder girdle.

The rate of an accurate diagnosis for pediatric cancer is said to be low in developing countries; furthermore, due to inconvenient medical access and economic reasons, there are restrictions on the selection of treatments. Desmoid fibromatosis (DF) is a locally progressive, non-metastasizing fibroblast soft tissue tumor classified as intermediate type. We made a pathological diagnosis gross total tumor resection by the international collaboration with Myanmar, Cambodia, and Japan. The case was a 5-year-old Burmese boy. A recurrent growing tumor was found in his right buttock, which caused gait disturbance and aesthetic problems. In order to remove this giant DF, the oncologist consulted our department. Because DF had localized outside the pelvic ring, it could be resected with the embolization of the branch of the internal iliac artery. In operation, the sciatic nerve was preserved and a gross total resection was performed with R1 surgery. The patient is alive without any functional disorders and recurrences and is maintaining a good QOL. This is the first report on treating DF in Myanmar by an international collaboration team.

Desmoid fibromatosis (DF) is a locally aggressive clonal neoplasm with locally aggressive behavior and no metastatic potential. Historical treatment of DF has consisted primarily of up-front surgery when feasible. In recent years, recognition that DF can spontaneously stabilize or involute has allowed for many patients to be managed with watchful waiting rather than intervention. This review is intended to review recent developments in the treatment of DF. Recent studies have demonstrated prospectively that patients with DF often have improvement in their lesions without intervention, enabling an initial period of surveillance as a standard option for patients with mild symptoms. Given the lengthening list of effective systemic treatments, including sorafenib, pazopanib, and experimental agents, there has been a less reliance on local therapies for those patients who require treatment. For patients with DF that require treatment, there is a growing list of options that includes radiation therapy (RT), percutaneous ablation, and a growing list of systemic agents with favorable toxicity profiles.

Abstract Background The gastrointestinal tract can be affected by both epithelial and non-epithelial tumors. When considering non-epithelial tumors, gastrointestinal stromal tumors (GISTs) are the most common with an incidence of 7–15 cases per million per year. Fibroblastic desmoid tumors, originating from mesenchymal cells, are rarer with an incidence of 2–4 cases per million per year. Despite being distinct lesions, these tumors may appear similar on imaging when they involve the stomach wall or bowel. As a result, they may be confused with one another when initially diagnosed. Aims This report aims to present a case where a desmoid tumor was mistaken for a gastric GIST despite extensive investigation prior to laparotomy. Methods Retrospective review of one patient. Results A 27-year-old gentleman presented with acute left-sided abdominal pain and postprandial fullness that began 2 days prior. A CT-abdomen/pelvis demonstrated a large exophytic mass arising from the lesser sac of the stomach, in keeping with an aggressive gastrointestinal stromal tumor (GIST). He was admitted and was further investigated with an endoscopic ultrasound, which demonstrated an exophytic hemorrhagic mass arising from the muscularis propria of the gastric wall. Again, this was most consistent with a GIST and urgent surgical resection was recommended. An exploratory laparotomy was organized the following day. There were no signs of a GIST intraoperatively, but rather a soft tissue tumor of the left mesentery of the transverse colon. This mass was resected, and a biopsy of the peritoneum was collected. Pathology identified a low-grade spindle cell tumor, CD117/CD34 negative with patchy cytoplasmic and nuclear β-catenin staining, in keeping with desmoid fibromatosis. Conclusions This case illustrates how GISTs and desmoid tumors are often mistaken for one another when associated with the stomach wall or bowel. Despite morphologic features of both tumors outlined in the literature, pathology, with focus on specific staining patterns, is necessary in many cases to distinguish the two. This distinction is paramount for appropriate prognostication and management, including timely investigation for associated diseases such as Familial Adenomatous Polyposis in patients with desmoid tumors. Funding Agencies None

Abstract Desmoid tumors are tumors of the fibrous tissue that are benign, which most commonly occur in the abdominal walls of females who are of childbearing age. The most common location for extra-abdominal desmoid tumors is the shoulder and the upper limb. They show no tendency for metastasis but are locally very aggressive. Here we report a rare case of extra-abdominal desmoid fibromatosis in the mandible of a child.

BackgroundSurgery is an effective treatment for desmoid fibromatosis, but it may be difficult, depending on the location or local spread of the tumor, and the decision to perform surgery must be made carefully. We herein report a case of desmoid fibromatosis of the chest wall in a young woman suspected of having invasion to the 1st, 2nd and 3rd ribs.Case presentationA 35-year-old woman had been aware of dry cough and right chest pain, so she was referred to our hospital. Chest computed tomography showed a localized pleural tumor mainly at the first rib. Magnetic resonance imaging revealed a 75 × 65 × 27-mm tumor with a smooth surface, with partial contact from the first rib to third rib and partial extension to the 1st intercostal space. The tumor showed growth in the two months after the first visit, so resection was performed. The tumor was completely resected, and adjuvant radiation therapy (50 Gy) was performed for the small margin. The pathological diagnosis was desmoid fibromatosis. The postoperative course has been uneventful, without recurrence at 14 months after surgery.ConclusionsIn chest wall tumors located ventral of the pulmonary apex, we suggest that a combination of the Grunenwald method and Masaoka anterior approach may be a useful option. In cases where margin is not enough, adjuvant radiation therapy should be considered.

Desmoid fibromatosis (DF) is a locally aggressive connective-tissue tumor arising in deep soft tissues. Although multiple therapeutic modalities have been demonstrated effective for DF, there is no standard systemic treatment for progressive and recurrent DF. As a part of systemic treatment, tyrosine kinase inhibitors have shown promising activity against DF with tolerable toxicity profiles. Thus, the aim of this study was to investigate the efficacy and safety of apatinib, a novel multi-target angiogenesis inhibitor, in patients with DF. We retrospectively analyzed the medical records of patients with advanced extremity DF regularly treated with apatinib between October 2017 and January 2020 in our center. Apatinib was initially administered with a dose of 250mg daily and the dose was adjusted according to the toxicity. Tumor response was assessed by the Response Evaluation Criteria in Solid Tumors 1.1 criteria. The primary endpoint was progression-free survival (PFS); objective response rates and drug-related adverse events were also evaluated. A total of 22 (6 male, 16 female) patients with advanced extremity DF were included. The mean medication time was 17months. None of the patients reached a complete response, but ten (45.5%) patients achieved partial response, and 11 patients (50%) achieved stable disease. One (4.5%) patient developed progressive disease, and the 1-year PFS rate was 95.2%. The disease control rate was 95.4% (21/22) and the objective response rate was 45.5% (10/22). Meanwhile, 18 (81.8%) patients with a tumor shrinkage were accompanied by a decreased signal intensity of lesions in T2-weighted magnetic resonance imaging. The most frequent adverse events included hand-foot syndrome (n = 7, 31.8%), fatigue (n = 6, 27.2%), local pain (n = 4, 18.1%), diarrhea (n = 4, 18.1%). Apatinib is an effective and well-tolerated option for patients with advanced extremity DF. Indeed, further prospective, randomized studies with larger cases are required to fully explore the clinical utility of apatinib in DF.

Desmoid fibromatosis (DF) arising from musculoaponeurotic structures rarely affects the head and neck region with the abdomen being the most common site of origin. These are benign tumors with locally infiltrative nature usually presenting as painless swellings that are rapidly growing. The infratemporal fossa DF is an extremely rare location with few clinical reports. This article discusses the management of a 2-year-old child with DF of the infratemporal fossa (ITF) along with literature review.