Desmoid-type Fibromatosis Research Articles

Background: Desmoid tumors (DTs) are rare, locally aggressive soft-tissue neoplasms that often affect women of reproductive age. Pregnancy and prior abdominal surgery or trauma have been associated with tumor development and growth, while imaging frequently overlaps with abdominal-wall endometriosis. We present the case of a 39-year-old woman with an abdominal-wall DT and provide a narrative review of the literature focused on pregnancy/postpartum patterns, differential diagnosis, and management. Methods: A narrative review of PubMed/MEDLINE and Web of Science (January 1982–December 2024) was conducted. We included English-language case reports/series, narrative/descriptive reviews, and consensus statements relevant to DTs in pregnancy or reproductive-age women, emphasizing abdominal-wall disease. Results: The patient’s right abdominal-wall mass enlarged during pregnancy and further post-partum imaging repeatedly suggested endometriosis. En bloc resection revealed desmoid-type fibromatosis composed of bland spindle cells in a collagenous stroma, with nuclear β-catenin and lymphoid enhancer–binding factor 1 (LEF1) positivity on immunohistochemistry. Magnetic resonance imaging (MRI) at 12 months showed no recurrence. Across included studies, pregnancy and post-partum enlargement is common, abdominal-wall DTs frequently mimic scar endometriosis, and pre-operative ultrasound has limited specificity. Current practice supports watch-and-wait for stable, asymptomatic lesions and function-preserving surgery for symptomatic progression, while systemic options (anti-estrogens, low-dose chemotherapy, and tyrosine kinase inhibitors) are reserved for progressive or unresectable disease. Recurrence risk relates to age, size, site, and β-catenin status; future pregnancy is not contraindicated. Conclusions: Abdominal-wall DTs, although rare, should be considered in the differential diagnosis of reproductive-age women presenting with abdominal-wall masses, particularly during or after pregnancy.

Background/Objectives: Desmoid tumors (DTs) are rare benign soft tissue neoplasms characterized by local aggressiveness and high rate of recurrence. Spinal localization is only anecdotally reported in the literature. When presenting in a dumbbell-shaped configuration, they can mimic neurogenic tumors. Methods: We report a rare case of a spinal intracanalar–intrathoracic DT, initially suspected to be a schwannoma, and review the literature. Results: A 24-year-old asymptomatic man was incidentally found to have a mediastinal mass on chest X-ray. CT and MRI revealed a left thoracic paravertebral mass (T9–T12), with intracanalar extension through the T10–T11 foramen, suggestive of a dumbbell-shaped neurogenic tumor. After embolization, the patient underwent surgery via a posterior combined intracanalar and endothoracic approach. Histology and immunohistochemistry analysis identified the tumor as a desmoid type fibromatosis (β catenin positive; S100, CD34, SMA negative). Follow-up MRI at 8, 12, and 18 months showed stable residual intrathoracic mass. Conclusions: To date, only 36 cases of spinal DTs have been reported in the literature, of which only 6 exhibited dumbbell morphology. Immunohistochemical and molecular pathological testing is essential for diagnosis. Although wide resection is preferred, anatomical limitations often necessitate marginal or subtotal surgery, which increases the risk of recurrence (24–77%). Our review showed a 29% overall recurrence rate (50% after subtotal, 29% marginal, 20% wide resection). Adjuvant radiotherapy or systemic therapies may help improve outcomes. Spinal DTs pose significant diagnostic and therapeutic challenges. In the absence of established guidelines, management should be individualized and multidisciplinary. Lifelong follow-up is essential due to the high risk of recurrence.

Desmoid-type fibromatosis is a rare soft tissue tumor characterized by invasive growth within deep connective tissue without metastasis. The etiology is largely unknown, but several cases have been reported in the postoperative setting. The management is multidisciplinary and largely dependent on individual presentation. Here the authors report a postoperative case of a rapidly progressive and symptomatic paraspinal desmoid tumor (DT). A 51-year-old female with a history of familial adenomatous polyposis and a previous L3-5 decompressive laminectomy and fusion presented to the neurosurgery clinic with complaints of a painful left posterior flank mass. Imaging disclosed a left posterior thoracic soft tissue mass originating at the T8-9 level and extending through the T11-12 level, suggestive of sarcoma. Pathological analysis from an open biopsy specimen confirmed desmoid-type fibromatosis. The patient underwent total resection. At 5 months postoperatively, she reported a progressive resolution of her symptoms without recurrence. Paraspinal DTs are a rare occurrence that may be de novo in origin or arise following spinal surgery. These tumors have a predilection for middle-aged females and may present in any region of the spine. A biopsy is needed for definitive diagnosis. Management may be active surveillance, medical management, or surgical management. https://thejns.org/doi/10.3171/CASE25573.

Introduction. Desmoid-type fibromatosis is a rare locally aggressive tumor originating in connective tissue and characterized by locally destructive invasive growth, high recurrence potential and absence of metastases. In recent years, attempts to standardize the treatment of this disease were made but all current therapy methods have disadvantages and do not guarantee absence of disease progression. Aim. To evaluate safety and efficacy of radiofrequency ablation in patients with desmoid tumors. Materials and methods. The study included 9 adult patients of both genders (4 men and 5 women) aged 21–65 years with morphologically verified diagnosis of desmoid tumor of the soft tissues with extra-abdominal location. All patients in the study group underwent control examination prior to the procedure. The treatment was performed in several stages at low volume (2–50 cm3) taking into account tumor size. Efficacy was determined using pain syndrome regression per the VAS and Watkins scale, as well as Karnofsky Performance Status Scale. Safety was evaluated per the Clavien–Dindo Scale. Results. Analysis of pain syndrome dynamics per the VAS and Watkins scale before and after treatment was performed. For both VAS (p = 0.004) and Watkins scale (p = 0.014), statistically significant changes were observed. Pain syndrome decreased to 50 %, and the percentage of patients declining analgesics increased to 66.7 %. Analysis of the performance status per the Karnofsky scale also showed statistically significant changes (p = 0.015). Mean value increased to 90 %. No complications were reported at the time of the study. Conclusion. Radiofrequency ablation showed itself to be a safe and effective method for treatment of desmoid tumors. However, further studies are necessary involving more patients.

Tenosynovial giant cell tumor (TGCT) is a benign but locally aggressive synovial neoplasm that affects both adults and children. In pediatric patients, it commonly involves the knee and ankle, presenting with pain, swelling, and mechanical symptoms, which can mimic other joint disorders. Early and accurate identification is crucial to prevent joint damage and functional impairment. Ultrasound is the first-line imaging modality due to its accessibility and ability to assess synovial proliferation and vascularity, but MRI is the reference standard for diagnosis, showing characteristic low signal intensity on T1- and T2-weighted images and blooming artifact on gradient-echo images due to hemosiderin deposition. Advanced imaging techniques, such as diffusion-weighted imaging and dynamic contrast-enhanced MRI, further enhance lesion characterization. Treatment is primarily surgical, with arthroscopic resection preferred for localized TGCT and open synovectomy required for diffuse disease. This review explores the epidemiology, clinical presentation, imaging features, and treatment of pediatric TGCT, with an emphasis on the differential diagnosis, which includes juvenile idiopathic arthritis, hemophiliac arthropathy, venous malformation, primary synovial chondromatosis, synovial sarcoma, fibroma of the tendon sheath, desmoid-type fibromatosis, and epithelioid sarcoma. The role of multimodal imaging in diagnosis and management is also discussed.

Desmoid-type fibromatosis (DTF) is a rare intermediate malignancy with high local aggressiveness and recurrence in children after first-line methotrexate-vinblastine (Mtx-Vbl) regimen. The objective is to describe refractory DTF to standardize second-line therapy. This national multicenter retrospective study included patients (<25years) with progressive/refractory DTF after Mtx-Vbl first-line. The primary objective was to evaluate response rate (RR: complete/partial response [CR/PR]) and progression-free survival (PFS2) following second-line treatments. Secondary objectives included overall burden of therapy and predictive factors for therapeutic efficacy analysis. From 2000 to 2022, 50 patients fulfilled inclusion criteria. Median age at first relapse was 15.6years [range: 0.9-24.8]. Second-line treatments included exclusive medical treatment for 86%-majority alkaloid-based re-challenge (60%)-exclusive local therapy in 8%, both (4%) and observation (2%). RR to any medical therapy was 30% [95% CI: 16-44], specifically 35% [95% CI: 15-55] for alkaloid-based regimens with clinical benefit (CR/PR or stabilization) in 85%. The 5-year PFS2 was 44% [95% CI: 30-58]. Limb location was the only significant predictive factor for PFS2 (p < 0.01). Overall treatment load comprised a median of three lines [range: 2-8] over 27months median duration [range: 4-90]. Local therapy was done for 50% of patients. One patient died from secondary digestive infection. Refractory DTF should be considered as a chronic disease with significant treatment burden where objectives should be regularly reassessed. Even for refractory disease, local therapy might be avoided in half of cases. Authors propose a second-line treatment algorithm for pediatric refractory DTF.

The article presents a rare form of pathological neoplasms — breast desmoid type fibromatosis. There are etiology and pathogenesis of the disease, clinical and morphological features, diagnostics and tactics of treatment of the disease. Widely covered clinical examples from the practice of a surgeon-oncologist. Desmoid fibromatosis (DF) is an aggressive non-metastatic mesenchymal formation that arises from musculoponeurotic structures. DF accounts for 0.03 % to 0.1 % of solid tumors and 3 % of mesenchymal tumors. Among breast pathology, this neoplasm is even rarer (0.2 %). Due to the rarity of such pathology, clinicians are not always able to correctly interpret the diagnostic picture and recognize the disease. The etiology and pathogenesis of the disease are also not fully understood, and therefore there are no standards for the treatment of desmoid fibromatosis. Surgical treatment remains the main one. To reduce the frequency of recurrence of the disease, the surgeon needs to achieve clean edges of the resection. Radiation therapy, hormone therapy, targeted therapy, and chemotherapy may additionally be considered as an alternative type of treatment. When the clean edges of the resection are reached, strict dynamic monitoring of pa is considered as further treatment.

The duration of treatment for desmoid-type fibromatosis (DTF) is undefined. This study aimed to evaluate the efficacy of discontinuing sorafenib in responding patients with extremity DTF. We hereby report the initial findings comprising outcomes of 20 evaluable patients enrolled in this study. This prospective single-arm phase 2 Simon's 2-stage trial enrolled adults with radiologically non-progressive, pain-free (Edmonton Symptom Assessment Scale (ESAS) score <2) extremity DTF post at least 1 year of sorafenib. Sorafenib was discontinued and patients were monitored by clinical examination, magnetic resonance imaging, European Organisation for Research and Treatment of Cancer Quality of Life Questionnaire-Core 30 and Addenbrooke's Cognitive Examination. Disease progression was defined as ≥10% increase in size plus ESAS >5 or ≥20% increase in size. The primary endpoint was a 1-year progression-free survival rate (PFR) after discontinuation. An unplanned analysis of the primary objective among 20 evaluable patients is being presented in this study. 33 patients had a median age of 29.5 years (range: 23-38) and a female-to-male ratio of 1.2:1. Median duration of sorafenib therapy was 24 months (range: 14.5-33.5), and at a median follow-up of 15 months (range: 9-18), 20 patients were evaluable. Among the 20 evaluable patients, 1-year change in tumour size ranged from a 21% decrease to a 32% increase. Three patients restarted sorafenib because of pain with stable disease (n = 2) and radiological progression (n = 1). 6-month and 1-year PFR was 96.7% and 95%, respectively. Statistically significant quality of life (QoL) improvement was demonstrated in insomnia (p = 0.01), diarrhea (p = 0.02), physical (p < 0.001) and social (p = 0.04) functioning at 12 months while neurocognitive functions remained stable. As per the early results, stopping sorafenib can be potentially considered in responding patients with stable extremity DTF after at least 1 year of treatment. With improvement in QoL and an acceptable rate of disease progression upon stopping sorafenib, this treatment discontinuation strategy could be an important consideration in DTF management. Further analysis of the entire study cohort is warranted to establish optimal treatment duration for extremity DTF.

Desmoid-type fibromatosis is a locally aggressive tumor characterized by a well-differentiated proliferation and a high risk of recurrence. It is classified into extra-abdominal, abdominal, and intra-abdominal subtypes based on its location. Although rare, cervical desmoid fibromatosis is an even less common manifestation. Furthermore, its radiological features are seldom reported in the literature, making differentiation from other cervical masses particularly challenging. We report an unusual case of a 16-year-old female patient, who presented with a progressively enlarging, painless mass on the left side of her neck over the past six months. Further imaging and histopathological evaluation were performed, leading to the diagnosis of cervical desmoid fibromatosis.

Neuromuscular choristoma (NMC) is a rare condition affecting peripheral nerves, most commonly the proximal sciatic nerve. It is characterized by the presence of muscle tissue within the nerve. Patients typically present with neuropathic symptoms. NMC is associated with the development of NMC-associated desmoid-type fibromatosis (NMC-DTF). In this study, we report findings of qualitative and quantitative MRI signal intensities to further expand on known MRI imaging features of NMC. Retrospective analysis of NMC cases of the sciatic nerve from our institution was conducted. The sciatic nerve was selected as a model example due to its common involvement. Inclusion criteria were a confirmed NMC diagnosis and available MR exams. MRI signal intensities from the affected nerves and normal contralateral nerves were compared, normalized to muscle signal intensity for consistency across different MRI sequences. Fourteen patients (8 men, 6 women) met the inclusion criteria. No significant differences in T1 or T2 signal intensities were found between NMC and unaffected nerves. However, NMC demonstrated significantly higher post-contrast signal intensities (p = 0.003) compared to unaffected nerves. These findings were consistent across the proximal and distal segments of the affected nerve. Our study expands the understanding of MRI features in NMC. The increased post-contrast enhancement in NMC may serve as a useful diagnostic tool and could potentially play a role in detecting areas at risk for future DTF development. This highlights the importance of comprehensive imaging, including post-contrast sequences and ideally imaging of the entire course of the affected nerve.

Desmoid-type fibromatosis (DF) is a rare, locally aggressive soft tissue tumor with no metastatic potential but a high recurrence rate. We present the case of a 28-year-old postpartum woman who developed a rapidly enlarging pelvic mass, which was later confirmed as DF via imaging and biopsy. The initial management with chemotherapy and radiotherapy was unsuccessful, necessitating radical surgical intervention with pelvic exenteration. Given its association with hormonal changes, particularly during pregnancy and the postpartum period, DF poses significant diagnostic and therapeutic challenges. This case underscores the importance of early recognition, multidisciplinary management, and individualized treatment strategies to optimize patient outcomes.

Desmoid-type fibromatosis (DF) is an uncommon, locally invasive, non-metastatic soft-tissue neoplasm with variable and unpredictable manifestations. The therapeutic arsenal of DF therapy is consistently expanding; however, there remains no standard treatment modality. Sporadic pancreatic DF is rarely described in current literature, reflecting a significant deficiency in clinical treatment experience, this case aims to share some clinical experiences that can serve as a reference for managing this rare disease. A 36-year-old male presented with occasional abdominal discomfort and weight loss over a year. Ultrasound revealed a large mass in the pancreatic tail, which was not observed a year ago. The diagnosis of DF was confirmed by immunohistochemistry nuclear staining of β-catenin. Distal pancreatectomy with splenectomy was performed and the patient received no further therapy. After 13 months of follow-up, no recurrence or distant metastasis was observed. DF is a distinct rare tumor entity, sporadic pancreatic DF is even rarer. It is imperative to select the individualized treatment strategy for each patient to optimize tumor control and enhance quality of life.

Comprehensive RNA-seq Analysis Identifies Network Hub Genes and Biomarkers Differentiating Desmoid-type Fibromatosis from Reactive Fibrosis

88P Head, neck and shoulder desmoid-type fibromatosis: characteristics and outcome of these ultra-rare locations

Desmoid-type fibromatosis, an intermediate soft tissue tumor known for its local infiltrative behavior and high recurrence rate, is uncommon in the male breast. The report outlines the clinical journey of a 44-year-old male presenting with a rapidly growing breast mass, initially managed with a watchful waiting approach and subsequent systemic therapies including celecoxib, sorafenib, and a combination of methotrexate and vinblastine, all of which proved ineffective. Genetic testing revealed a catenin beta 1 (CTNNB1) mutation, indicative of a sporadic tumor. Despite various treatment attempts, significant tumor progression was observed, necessitating surgical intervention followed by radiotherapy. This case underscores the challenges in managing desmoid tumors, emphasizing the importance of multidisciplinary approaches and the potential need for surgical resection when conventional therapies fail.

Introduction Desmoid-type fibromatosis (DTF), also called aggressive fibromatosis, is a rare, benign, locally aggressive condition. Mammary DTF originates from fibroblasts and myofibroblasts within the breast tissue, representing 0.2% of all breast tumors. This study aims to present and discuss the clinical presentation and management of seven cases of breast DTF. Methods This single-center case series was conducted at the breast clinic of Smart Health Tower in Sulaymaniyah, Iraq. It included all patients diagnosed as breast DTF by histopathological examination, with those lacking complete data excluded. The patients were treated and managed between January 2021 and August 2024. Results This study involved seven female patients with a mean age of 35.29 ± 14.29 years. Clinically, six of them (85.71%) presented with a palpable breast mass, while one patient (14.28%) reported breast pain. Ultrasound revealed hypoechoic lesions in all cases. The average size of the masses was 29.43 ± 17.26 mm. All patients underwent wide local excision of the breast mass. In one patient (14.28%), rib excision was necessary due to chest wall invasion due to a recurrent desmoid tumor. Histopathological examination confirmed the diagnosis of DTF in all cases. Conclusion Diagnosing a desmoid tumor of the breast can be difficult, as it can mimic breast carcinoma. The WLE is often the preferred treatment to prevent future recurrences.

To characterize the radiological findings of desmoid-type fibromatosis (DF). This two-institution retrospective study included 152 patients with pathologically confirmed DF who underwent computed tomography (CT), magnetic resonance imaging (MRI), or 18F-fluorodeoxyglucose-positron emission tomography (FDG-PET)/CT between January 2001 and February 2024. Two board-certified radiologists independently evaluated the CT, MRI, and FDG-PET/CT findings, and a third board-certified radiologist resolved discrepancies. Imaging was performed with and without contrast media: 70 patients underwent plain CT, 95 underwent contrast-enhanced (CE) CT, 115 patients underwent plain MRI examinations, 100 patients underwent CE-MRI, and 11 patients underwent FDG-PET/CT (most patients underwent several modalities). The median age of the patients was 40 years, with a female predominance (male, 39.5% vs female, 60.5%). Swelling or palpable mass was the most frequent symptom (78/152, 51.3%). Gross total resection of DF was performed in 57 patients, with a recurrence rate of 38.6% (22/57). Tumors were most frequently observed in the extra-abdominal region (79/152, 51.6%). Characteristic radiological features included intermediate intensity on T2-weighted imaging (112/113, 99.1%), intermediate-to-high intensity on T1-weighted imaging (109/111, 98.2%), substantial enhancement in the late phase on MRI (100/100, 100%), moderate to strong enhancement in the late phase on CT (18/20, 90%), and arterial penetration sign on CE-CT (25/96, 26.0%). The mean apparent diffusion coefficient (ADC) of DFs was 1.46 × 10-3 mm2/s (range, 1.00-2.20). This study highlights the unique imaging features of DF, including the arterial penetration sign and high mean ADC values, which can aid in differentiating DF from other soft tissue tumors. These findings may improve preoperative diagnostic accuracy and reduce the need for invasive procedures. Question Imaging findings of DFare not well-documented in large-scale studies. Findings This study identifies unique imaging features of DF, such as the arterial penetration sign and high mean ADC values. Clinical relevance These distinctive imaging characteristics improve diagnostic accuracy for DF and lead to appropriate patient management, as DF requires distinct treatment strategies.

Desmoid tumors, also known as desmoid-type fibromatosis (DF), develop from musculoaponeurotic tissues. They are Mesenchymal tumorfibrous tumors of benign character that do not metastasize. However, they can take an aggressive course by showing local growth in the area where they are located. Although they can originate fromany skeletal muscle, they are most commonly seen on the anterior abdominal wall. Various treatment options are available depending on the clinical condition of the patient. We aimed to discuss the diagnosis and treatment of DF with a 55-year-old male patient who has DF and applied to our clinic.

ObjectiveThis study aimed to compare the expression of lymphoid enhancer factor 1 (LEF1) and β-catenin in basal cell adenoma (BA), desmoid-type fibromatosis (DF), and pancreatic solid pseudopapillary neoplasm (SPN) to evaluate their diagnostic utility in tumors associated with the WNT/β-catenin signaling pathway harboring the mutation of CTNNB1 gene 3 exon.MethodsEighty tumor patients, including 26 BAs, 30 DFs, and 24 SPNs, were analyzed. Immunohistochemical staining was identified positive (nuclear staining of LEF1 and β-catenin in > 50% of tumor cells). The diagnostic rate of LEF1 alone, β-catenin alone, and their combination were compared for each tumor type and all patients.ResultsCompared to β-catenin, when LEF1 alone was used for diagnosis, the diagnostic rate increased by 46.16% for BA, 16.67% for SPN, and 11.25% for all patients, but decreased by 23.34% for DF. The combined use of β-catenin and LEF1 significantly increased the diagnostic ratio in BA (46.16%), SPN (16.67%), and all patients (21.25%), but only marginally in DF (3.33%). In terms of all WNT pathway tumors with CTNNB1 gene mutation encompassed by our study, statistical analysis revealed no significant difference between LEF1 alone and β-catenin alone. However, their combined application was highly significant (P = 0.001) .ConclusionWhile β-catenin is commonly used as a marker for WNT pathway tumors, its variable expression and localization can be challenging for diagnosis. Our study emphasizes the importance of LEF1 as a complementary marker to β-catenin in diagnosing BA, DF, SPN, and other WNT pathway tumors activated by exon 3 CTNNB1 gene mutation. The combined use of LEF1 and β-catenin enhances diagnostic accuracy and may help the identification of these tumor types.

Background/Objectives: Desmoid-type fibromatosis (DTF) is a locally invasive tumor composed of myofibroblast-like cells and collagen; it does not metastasize but can cause significant local morbidity. Most sporadic cases are associated with mutations in the CTNNB1 gene, which encodes beta-catenin. Various treatments have been used with differing efficacy and toxicity profiles. At our institution, pegylated liposomal doxorubicin (PLD) has become the preferred treatment for patients with DTF. We aim to describe our experience using PLD in patients with DTF who require treatment. Methods: A retrospective review of 61 DTF patients (41 females, 20 males) treated between 2000 and 2023 was conducted to assess the efficacy and toxicity of PLD. Results: Of the 26 patients treated with PLD, 23 had follow-up clinical data to assess benefit. Twenty-one showed clinical benefit, and only one progressed. Two patients did not benefit from PLD due to infusion reactions and chose alternative therapies. The primary side effect of PLD was hand-foot syndrome (HFS), but dose reduction and extended intervals allowed most patients to tolerate treatment. Other treatments, such as methotrexate, vinblastine/vinorelbine, and sorafenib, also showed activity but had significant toxicities, including severe HFS, malaise, and hypertension. Interestingly, 31 out of 61 patients had a pre-existing history of psychiatric conditions (primarily depression and anxiety), and 6 of 41 women had personal or family history of polycystic ovary syndrome (PCOS). Additionally, 15 patients had obesity, and 4 had hypothyroidism. Conclusions: PLD is an effective and well-tolerated treatment for DTF, with good clinical responses at lower, tolerable doses. The association of pre-existing psychiatric diagnoses, PCOS, and obesity warrants further investigation.