RAD51C and MYST3 Mutations in a Case of Desmoid-Type Fibromatosis With No Mutation in CTNNB1 or APC.

Most cases of desmoid-type fibromatosis (DTF) exhibit a mutation in APC or CTNNB1. We report a case of mesenteric DTF in which no mutation in APC or CTNNB1 was found, but a germline variant of uncertain significance (VUS) in RAD51C and a subclonal mutation in MYST3 were identified. Whether these genetic changes are important in DTF in this case, or whether genetically conventional DTF cells were present at a density below detection is unknown; it will be of interest to see results in further studies of wild-type APC/CTNNB1 cases.

Multifocal Desmoid-Type Fibromatosis: Case Series and Potential Relationship to Neuronal Spread.

Multifocal desmoid-type fibromatosis (DTF) is very rare and usually regional. We report three cases that initially appeared to be multifocal, but subsequent detailed imaging revealed unsuspected tracking along nerves in two cases. This neural spread is reminiscent of neuromuscular choristoma (NMC), a rare developmental lesion in which mature skeletal muscle cells, or rarely smooth muscle cells, infiltrate and enlarge peripheral nerves. NMC is frequently associated with DTF. These two cases suggest that DTF spread along nerves and appeared as distinct multifocal lesions while actually being contiguous. The third case was felt to represent true multifocal tumor development, possibly due to tumor seeding at the time of chest surgery. The relationship of DTF to NMC is discussed.

Intramuscular desmoid tumor of the leg leading to external popliteal sciatic neuropathy: A case study and literature review.

INTRODUCTION AND IMPORTANCE: Desmoid tumors (DT), rare benign neoplasms of soft tissues, exhibit local aggressiveness and high recurrence rates. Originating from myofibroblast proliferation, complete surgical intervention is the preferred treatment. Despite their benign nature, these tumors are infrequent, predominantly affecting women between 15 and 60, with a higher incidence in adolescence. CASE PRESENTATION: A 44-year-old woman with a DT in the leg mimicking external popliteal sciatic neuropathy. Diagnosis confirmed by biopsy, surgery performed with preservation of the external popliteal nerve, ensuring optimal nerve function. Two-year follow-up with no recurrence, demonstrating the success of the surgical intervention. CLINICAL DISCUSSION: DTs, although rare, exhibit three distinct genomic mutations, with the 45F genotype associated with the highest risk of recurrence. Generally sporadic, these tumors can be linked to familial adenomatous polyposis (FAP) and influenced by states of hyperestrogenism. DTs typically present as deep-seated masses, with frequent local recurrence despite complete resection. CONCLUSION: DTs pose diagnostic and therapeutic challenges, often requiring complete surgical intervention. Management depends on symptomatology, with careful monitoring for small asymptomatic tumors and adjuvant radiotherapy in case of incomplete resection. Despite surgical success, frequent recurrence underscores the need for in-depth research to enhance therapeutic approaches.

Surgical techniques and effectiveness of laparoscopic resection of abdominal wall desmoid-type fibromatosis and defect reconstruction: a single-center retrospective analysis.

PURPOSE: Although the treatment of abdominal wall desmoid-type fibromatosis (DF) has evolved over the past decades, surgical treatment remains an important approach. Previously, surgeries for abdominal DF were mostly performed by laparotomy, which involves massive dissection and significant trauma. Here, we report our single-center experience of the laparoscopic management of abdominal wall DF in young female patients. METHODS: The clinical data of nine patients diagnosed with abdominal wall DF during January 2020-April 2022 at the Qilu Hospital of Shandong University were retrospectively analyzed. All patients underwent laparoscopic resection of abdominal wall DF and immediate abdominal wall reconstruction (AWR) with mesh augmentation via the intraperitoneal onlay mesh (IPOM) technique. RESULTS: Laparoscopic DF resection and AWR were successfully performed in all patients. The mean operation time was 175.56 ± 46.20 min. The width of abdominal wall defect was 8.61 ± 3.30 cm. Full- and partial-thickness myofascial closure and reapproximation were performed in five, two, and two patients, respectively. The average mesh size was 253.33 ± 71.01 cm2. The total and postoperative lengths of hospital stay were 11.00 ± 3.46 and 4.89 ± 2.03 days, respectively. Tumor recurred in one patient after 20 months of the resection. Nonetheless, death, herniation, or bulging were not observed in any patient during a mean follow-up of 16.11 ± 8.43 months. CONCLUSION: Laparoscopic resection of abdominal wall DF and immediate AWR with IPOM mesh reinforcement is safe and reliable for young female patients. Management of such patients should be decided according to the biological behavior, size, and location of tumors.

Cervical Aggressive Fibromatosis Causing Airway Obstruction.

Fibromatosis or desmoid tumors are rare benign fibroblastic lesions that are rarely present in the head and neck regions. When they do occur in these regions, however, they tend to be aggressive toward the surrounding tissue and be associated with heavy morbidity and mortality. We report the case of a 26-year-old Tunisian female who presented with acute obstructive dyspnea and a 3-week history of cervical swelling. The swelling was initially only located in the left submandibular area, it then gradually extended to all the anterior cervical supra- and infrahyoid regions causing a clinical presentation resembling that of obstructive dyspnea, the patient was admitted, and an emergency tracheotomy was performed. Tissue samples were taken, pathological analysis revealed an aggressive case of fibromatosis. The patient was treated with corticosteroids and antihormonal therapy, the fibrous mass shrunk considerably allowing the removal of the tracheotomy cannula, no tumor recurrence was noted during the observation period. Due to the rarity of this disease, especially in the cervical region, there are no therapeutic guidelines available.

Case report: A rare case of desmoid-type fibromatosis originating in the small intestine.

Background: Desmoid-type fibromatosis (DF) is characterized by a rare monoclonal fibroblast proliferation that exhibits variable and unpredictable clinical presentation. DF can be classified into sporadic and hereditary types. Despite extensive research efforts, the exact etiology of DF remains elusive. Case description: A 31-year-old male patient presented to the hospital with a progressively growing mass in the right lower abdomen, accompanied by abdominal discomfort. Symptoms are discovered 1 week before admission. Enteroscopy revealed no evidence of colonic abnormalities, and blood tests did not indicate any abnormalities. Due to the indeterminate nature of the mass during surgery, a partial resection of the ileum and cecum was performed, followed by ileocolonic end-to-end anastomosis, with no postoperative complications. The final pathological diagnosis confirmed primary desmoid-type fibromatosis of the distal ileum (invasive fibromatosis). To effectively manage DF, we recommend a follow-up schedule for patients. This includes appointments every 3 months in the first year following surgery, followed by appointments every 6 months up to the fifth year, and then once a year thereafter. The follow-up examinations should include collection of the patient's medical history, physical examination, blood tests, ultrasounds, CT scans, and other relevant assessments. During the first year of the follow-up period, no further treatment was administered, and the patient remained disease-free. Conclusion: Desmoid-type fibromatosis (DF) originating from the small intestine is an extremely rare condition that exhibits local invasiveness and can be life-threatening. Despite its benign histology, DF has a high local recurrence rate and lacks metastatic potential. Diagnosis of DF remains challenging, especially in cases where surgical intervention is not feasible due to asymptomatic patients or partial organ impairment. In such cases, a "watchful waiting" approach is recommended as the initial treatment strategy. However, when preoperative diagnosis is difficult, surgery is typically considered the best option. Given the potential for local recurrence and the uncertain long-term prognosis, regular follow-up is necessary.

Recurrent Abdominal Aggressive Fibromatosis with Incapacitating Hip Contracture - A Case Report.

Introduction: Aggressive fibromatosis (AF) is a fibroblastic locally aggressive neoplasm arising from the musculoaponeurotic stroma and has no metastatic potential. The high tendency of recurrence despite complete surgical resections makes the management of the condition onerous. It can result in significant morbidity with major functional loss due to the destruction of adjacent vital structures and organs. AF with hip flexion contracture is a very rare occurrence. Case Report: A 20-year-old male presented with recurrent abdominal AF with severe hip flexion contracture and an unresectable tumor. He underwent deformity correction and he maintains the full correction achieved along with very good functional improvement at the end of 4 years. Conclusion: This case demonstrates that in a case of AF with an unresectable tumor, good functional outcome can be obtained; it can be maintained over the short term following contracture release with soft-tissue coverage surgery along with chemotherapy with sorafenib.

Extra­abdominal recurrent aggressive fibromatosis: A case series and a literature review.

Aggressive fibromatosis is a rare clonal proliferative tumor arising from mesenchymal cells in the fascia and musculoaponeurotic structures. The aim of the present study was to describe several cases of extra-abdominal recurrent aggressive fibromatosis. The present study was a single-center retrospective case series of patients with recurrent aggressive fibromatosis. The cases were managed at a single private facility. A total of 9 patients with recurrent fibromatosis were included. The mean and median ages of the patients were 29 and 30 years, respectively. In total, two thirds (66.67%) of the cases were female. A negative previous medical history was reported in 7 cases (77.7%), and diabetes and hypertension were reported in 1 case (11.1%). Overall, only 1 case (11.1%) had a family history of breast fibromatosis. The time interval between primary tumor resection and recurrent presentation was 28 months. In 6 cases (66.7%), the tumor was located in the extremities. Pain was the most common presenting symptom in 6 cases (66.7%). All patients had their recurring tumor surgically removed, followed by radiation in 5 cases. The resection margin was positive in 4 cases (44.4%). Each patient was subjected to a careful three-month follow-up for recurrences. On the whole, the present study demonstrates that despite the fact that several therapeutic approaches for extra-abdominal recurrent aggressive fibromatosis have been described in the literature, there is a significant likelihood of recurrence following resection.

Challenging Diagnostic Dilemma: Mesenteric Desmoid Tumor Masquerading as Perforated Peritonitis.

Desmoid fibromatosis is a rare benign neoplasm of the soft tissue. Primary desmoid neoplasms rarely occur in the small bowel and are primarily found in patients with a previous abdominal surgery or irradiation history. They are challenging to diagnose at the time of presentation due to a lower incidence and their non-specific presentation making it difficult to distinguish from other intra-abdominal neoplasms, such as gastrointestinal stromal tumors (GISTs), which may present with similar symptoms. We like to present a case of a 34-year-old male with a four-day history of abdominal pain with worsening severity and one episode of non-bloody vomiting. Physical examination was significant for generalized abdominal tenderness with positive rebound and board-like rigidity. A computed tomography (CT) scan of the abdomen showed the presence of a lower abdominal mass of unknown etiology with free air foci and free intraperitoneal fluid either due to rupture of the suspicious mass or secondary to infection by an air-producing organism. The patient was immediately taken for emergency surgery, the tumor was resected successfully, and a specimen collected was sent for histopathology, which came out to be a desmoid tumor. We aim to highlight the importance of keeping a broad differential diagnosis in a patient with acute abdomen and symptoms of peritonitis.

A giant, rapidly growing intra­abdominal desmoid tumor of mesenteric origin in an adolescent male: A case report and literature review.

A desmoid tumor is a fibroblastic proliferation of mesenchymal origin, which has no metastasizing potential but is locally aggressive. Although treatment has shifted to observation and active surveillance for newly diagnosed patients with desmoid tumors, intra-abdominal mesenteric tumors or tumors that persistently grow and provoke symptoms may need prompt surgical treatment. There have only been a small number of case reports that illustrate large sporadic intra-abdominal mesentery-deriving desmoid tumors in which the longest diameter was ≥19 cm. In the present study, an adolescent male patient with a rapidly growing 38-cm long sporadic intra-abdominal desmoid tumor of mesenchymal origin is reported. The patient was treated with chemotherapy followed by surgical resection due to non-responsiveness and progression of symptoms, then with maintenance adjuvant chemotherapy to prevent recurrence due to the large size of the tumor. Despite the rapid growth of the tumor and its high occupancy in the intra-abdominal cavity, an R0 resection was successful with organ preservation. The patient has been recurrence-free for 2 years, and further follow-up is expected in the future.

Aggressive fibromatosis near the incision after cervical spinal cord ependymoma: A case report.

Aggressive fibromatosis (AF), also known as ligamentoid fibromatosis and desmoid tumor, is a fibroblast clonoproliferative lesion located in the deep soft tissue. The present study reports the case of a 36-year-old female with AF who underwent cervical spinal cord ependymoma surgery. AF developed in the soft tissue of the neck adjacent to the incision site. The size of the neck AF increased rapidly over 2 years, and due to discomfort, the patient underwent initial surgical resection without any other combined treatment methods. When the patient was routinely reviewed at 6 months post-surgery, a recurrence of AF of the neck was found. The patient was recommended surgical resection and radiotherapy. This case report should improve the understanding of clinicians with regard to AF, and help the diagnostic process and treatment plan.

Desmoid Tumors: A Comprehensive Review.

Desmoid tumors (DT) are rare, locally aggressive, fibroblastic soft-tissue tumors that are characterized by infiltrative growth and can affect organs and adjacent structures, resulting in substantial clinical burden impacting patients' health-related quality of life. Searches of PubMed, Embase, Cochrane, and key conferences were conducted in November 2021 and updated periodically through March 2023 to identify articles describing the burden of DT. Of 651 publications identified, 96 relevant ones were retained. Diagnosis of DT is challenging because of its morphologic heterogeneity and variable clinical presentation. Patients visit multiple healthcare providers, often facing delays in correct diagnosis. The low incidence of DT (estimated 3-5 cases per million person-years) limits disease awareness. Patients with DT experience a high symptom burden: up to 63% of patients experience chronic pain, which leads to sleep disturbance (73% of cases), irritability (46% of cases), and anxiety/depression (15% of cases). Frequently mentioned symptoms are pain, limited function and mobility, fatigue, muscle weakness, and swelling around the tumor. Overall, quality of life in patients with DT is lower than in healthy controls. There is no treatment approved by the US Food and Drug Administration for DT; however, treatment guidelines reference available options, such as active surveillance, surgery, systemic therapy, and locoregional therapy. Choice of active treatment may depend on tumor location, symptoms, and risk of morbidity. The substantial burden of illness of DT is related to difficulties in timely and accurate diagnosis, high symptom burden (pain and functional limitations), and decreased quality of life. There is a high unmet need for treatments that specifically target DT and improve quality of life.

GOunder/Desmoid Tumor Research Foundation DEsmoid Symptom/Impact Scale (GODDESS©): psychometric properties and clinically meaningful thresholds as assessed in the Phase 3 DeFi randomized controlled clinical trial.

PURPOSE: The GODDESS© tool was developed to assess Desmoid Tumor/Aggressive Fibromatosis (DT/AF) symptom severity and impact on patients' lives. This study evaluated GODDESS©'s cross-sectional and longitudinal measurement properties. METHODS: The Phase 3, randomized placebo-controlled, DeFi study (NCT03785964) of nirogacestat in DT/AF was used to assess GODDESS©'s reliability, construct validity, responsiveness, and estimate of meaningful change thresholds (MCTs). Other patient-reported outcome (PRO) measures included Patient Global Impression of Severity (PGIS) in DT/AF symptoms, EORTC QLQ-C30, Brief Pain Inventory Short Form, and PROMIS Physical Function short-form 10a v2.0 plus 3 items. RESULTS: DeFi participants (N = 142) had a median age of 34 years (range: 18-76) and were mostly female (64.8%), with extra-abdominal (76.8%) or intra-abdominal tumors (23.2%). The GODDESS© symptom/impact scales showed internal consistency at baseline, cycles 4 and 7 (Cronbach's α > 0.70) and test-retest reliability (intra-class correlation coefficient > 0.85). GODDESS© scales correlated moderately to highly with PRO measures capturing similar content and differentiated among PGIS and Eastern Cooperative Oncology Group groups. GODDESS© scales detected improvement over time. For the total symptom score, a 1.30-point decrease was estimated as the within-person MCT and a 1.00-point decrease as the between-group MCT. For the physical functioning impact score, estimated within- and between-group MCTs were 0.60-point and 0.50-point decreases, respectively. Few participants exhibited symptom worsening. CONCLUSION: GODDESS© was found to be reliable, valid, responsive, and interpretable as a clinical trial endpoint in the pooled sample of DT/AF patients. Estimated MCTs can be used to define responders and assess group-level differences in future, unblinded, efficacy analyses. TRIAL REGISTRATION NUMBER AND REGISTRATION DATE: NCT03785964; December 24, 2018.

Infantile fibromatosis of the mandible- Is radical treatment justified?

Infantile fibromatosis is characterized by proliferation of fibrous soft tissue with a potential of invading the adjacent structures but lacks the ability to metastasize, thus making it a fairly benign lesion with borderline characteristics. The pathology resembles sarcomatous growth, therefore making it difficult for the clinician to correctly diagnose. There are two variants of extra-abdominal desmoid juvenile and adult variant depending upon the age group it predominately involves. Fibromatosis is comparatively a rare tumour with unpredictable growth and varying local recurrence rates. The mass usually grows slowly, rapid growth and recurrences being mostly associated with the juvenile forms. The disease may present as single or multifocal lesion with widespread distribution, thus requiring whole body scans to identify any insidious growth elsewhere. Here, we report a case of recurrent juvenile/infantile fibromatosis in a 2-year-old child, conservatively managed without any growth disturbance and signs of recurrence.

Desmoid Tumor of the Posterior Neck: A Case Report.

Desmoid tumors are rare. They account for roughly 0.03% of all neoplasms and less than 3% of all soft tissue tumors. They are locally aggressive tumors with no known metastatic potential or dedifferentiation. A 29-year-old woman with no family history of neoplasms presented with a mass in the cervical region and moderate pain that had developed a year before. The patient underwent marginal resection of the bilateral posterior and lateral compartments of the neck. The histopathological report confirmed the diagnosis of desmoid tumor with nuclear positivity for beta-catenin. The patient received radiotherapy but did not show a favorable response; she has stable disease and takes colchicine at one-year follow-up.

Recurrent Aggressive Fibromatosis Coexisting With Papillary Carcinoma Thyroid - Case Report.

Background: Aggressive fibromatosis (AF) is a benign tumor that usually has a locally aggressive and recurrent disease course. Reports of association between AF and malignancies have been reported infrequently. Case: We report a case of a 49-years lady who had papillary thyroid carcinoma associated with a distinct desmoid tumor occurring concurrently on the right side of the neck. Initial management comprised of total thyroidectomy followed by radio-iodine therapy and desmoid tumor resection. Recurrent AF developed at the same site as before after 2 years of resection. The recurrent tumor was managed with sorafenib, the patient responded with a resolution of symptoms, and the tumor remained stable. Beta-catenin mutation done by Sanger sequencing was negative in the tumor specimen. Conclusion: AF can occur as a separate tumor in association with PTC. If symptoms are not life-threatening medical management may be a better choice in management.

Retroperitoneal desmoid-type fibromatosis: a case report.

Desmoid-type fibromatosis (DF) is a rare subtype of soft tissue sarcomas that most commonly occurs in the anterior abdominal wall. When occurring in the retroperitoneum, DF is usually part of familial syndromes while only rarely sporadic. This makes it imperative to report any instance of experience with DF and the oncological outcomes of the different approaches to management. We report two cases of sporadic and severe DF occurring in the retroperitoneum at our institution. Case presentation: The first case is a male that presented with urinary obstruction symptoms and underwent surgical resection of the tumor that extended into the left kidney. The second case is a female with a history of recurrent desmoid tumors of the thigh and was incidentally diagnosed with retroperitoneal DF on imaging. She underwent tumor resection and radiotherapy; however, the tumor recurred with urinary obstruction symptoms that required another surgical resection. Histopathological characteristics and radiological imaging of both cases are described below. Clinical discussion: Desmoid tumors often recur, thus significantly influencing the quality of life which is reflected in one of our cases. Surgery remains a mainstay treatment, and both cases presented in this report required surgical resection of the tumors as symptomatic and curative measures. Conclusion: Retroperitoneal DF is a rare entity, and our cases add to the scarce literature available on the topic, which may well contribute to the formulation of practice-changing recommendations and guidelines focused on this rare variant of DF.

Disease and economic burden of surgery in desmoid tumors: a review.

INTRODUCTION: Desmoid tumors (DT) are soft-tissue tumors that infiltrate into surrounding structures with ill-defined margins. Although surgery is a potential treatment option, complete excision with negative margins is not often possible, the postsurgery recurrence rate is high, and surgery can result in disfigurement and/or loss of function. AREAS COVERED: We conducted a literature review to assess the burden of surgery in patients with DT, focusing on recurrence rates and functional deficits resulting from surgeries. Since economic data related to DT surgery is lacking, reviews of surgery costs in soft-tissue sarcomas and of general costs of amputations were conducted. Risk factors for DT recurrence after surgery are young age (<30 years), tumor location (extremities), tumor size (>5 cm in greatest diameter), positive resection margins, and history of trauma in the area of the primary tumor. Tumors in the extremities have the highest risk of recurrence (30%-90%). Lower rates of recurrences have been reported when radiotherapy was used after surgery (14%-38%). EXPERT OPINION: Although effective in specific cases, surgery may be associated with poor long-term functional outcomes and higher economic costs. Therefore, it is imperative to find alternative treatments with acceptable efficacy and safety profiles that do not adversely affect functional aspects in patients.