UNASSIGNED: 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.
METHODS: 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.
UNASSIGNED: 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.
CONCLUSIONS: 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.

OBJECTIVE: 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.
CONCLUSIONS: 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.
UNASSIGNED: NCT03785964; December 24, 2018.

UNASSIGNED: There are lacking standard treatment guidelines for aggressive fibromatosis (AF) because of its rarity.
UNASSIGNED: This study aimed to investigate the risk factors for recurrence and survival of abdominal AF after radical surgical resection.
UNASSIGNED: From August 2012 to December 2020, a retrospective analysis was conducted on the clinical data of 69 AF in Shanghai Public Health Clinical Center Affiliated to Fudan University, with the tumor locating either in the abdominal wall or in the abdominal cavity. The main observation end point was progression-free survival time (PFS) and overall survival time (OS).
UNASSIGNED: All 69 patients achieved microscopic R0 resection, 10 (14.5%) had local recurrence, and 3 (4.3%) died. The PFS rate after 1, 3, 5, and 10 years was 96.8%, 87.7%, 78.8%, and 78.8%, respectively. The OS rate after 1, 3, 5, and 10 years was 100%, 100%, 92.9%, and 81.3%, respectively. In 10 patients with recurrence, the median recurrence time was 17.6 months. Concomitant familial adenomatous polyposis (FAP) and history of previous recurrence were independent risk factors of post-operative recurrence.
UNASSIGNED: After radical surgery of abdominal AF, the local recurrence rate was 15%. Concomitant FAP and a previous history of recurrence were independent risk factors of post-operative recurrence. R0 and a combined organ resection should be performed especially in FAP patients to minimize the recurrence and improve the prognosis.
UNASSIGNED: The present study identifies the risk factors of recurrence in AF and suggests R0 resection especially in concomitant FAP patients. A wait-and-see strategy should not be generally implemented and radical surgery will bring clinical benefits to patients with such kind of rare disease.

OBJECTIVE: Aggressive fibromatosis of the abdominal wall is easily misdiagnosed prior to surgery as abdominal wall endometriosis or other tumors. The authors intend to evaluate the clinical features and outcomes of aggressive fibromatosis of the abdominal wall after surgical resection.
METHODS: We retrospectively analyzed the data from 24 patients treated in the First Hospital of China Medical University from January 2011 to June 2019 and discussed the characteristic of this disease after a review of literature worldwide.
RESULTS: Most patients were female (91.7%) with a mean age of 33 years (range 26-56 years). The most common symptom was progressive abdominal wall discomfort (ie, abdominal pain) in 16 patients (66.7%). Twelve patients (50%) had a history of cesarean section. All 24 patients underwent surgical R0 resection due to progression of disease or pain, including 12 patients treated with simple tumor resection and 12 patients treated with tumor resection followed by abdominal wall tension-free repair using synthetic mesh. Postoperative complications included incisional infection in three patients (12.5%), incisional hernia and postoperative bleeding in one patient each (4.2%). The local recurrence rate was 12.5%.
CONCLUSIONS: Aggressive fibromatosis of the abdominal wall mainly occurs in young women after cesarean section or other surgeries, with a high recurrence rate. Radical resection is an optimal treatment for the patients with progressive cases, and the restoration of extensive defects of the abdominal wall can be achieved with synthetic mesh, which leads to a good restoration of abdominal wall integrity.

Background: This study aimed to investigate the clinical characteristics and treatment methods for intra-abdominal aggressive fibromatosis. Methods: We reviewed the clinical data from 16 patients who were diagnosed with intra-abdominal aggressive fibromatosis and were admitted to Peking Union Medical College Hospital between March 1983 and September 2018. Results: Among the 16 patients, 11 patients presented with a hard smooth abdominal mass with clear borders and a diameter of 4.3-25.0 cm. Six patients had a history of abdominal surgery and 3 patients had a history of familial adenomatous polyposis. Computed tomography imaging revealed a slightly dense mass with mild-to-moderate enhancement. Of all the 16 patients, 11 patients underwent surgical treatment and no recurrence occurred in 10 case after complete resection while recurrence occurred in 1 case after partial resection. Two patients underwent surveillance and 3 patients received cytotoxic drugs treatment, and no disease progression was observed via imaging during their follow-up. Conclusions: Intra-abdominal aggressive fibromatosis is histologically benign tumor with high local recurrence rate. Surgery is an effective treatment and complete resection is essential in reducing the local recurrence rate.

Desmoid tumors are locally invasive sarcoma, affecting 5-6 individuals out of 1,000,000 per year. The desmoid tumors have high rates of recurrence after resection and can lead to significant deterioration of the quality of life of patients. There is a need for a better understanding of the desmoid tumors\' patient experience from first symptoms through diagnosis, disease monitoring, and clinical treatment options. With the National Organization of Rare Disorders, the Desmoid Tumor Research Foundation Natural History Study was designed to be collected through the registry. This article describes the protocol for the Desmoid Tumor Research Foundation Natural History Study and some initial findings. The Desmoid Tumor Research Foundation Natural History Study Advisory Committee developed a series of questionnaires and longitudinal surveys, in addition to those from the National Organization of Rare Disorders for all of the rare diseases. These 13 surveys are designed to uncover initial symptoms, diagnosis process, disease monitoring, quality of life, treatments, as well as socioeconomic information. Since launching the Desmoid Tumor Research Foundation Registry and Natural History Study (https://dtrf.iamrare.org), more than 300 desmoid tumor patients have consented to the Desmoid Tumor Research Foundation Natural History Study and completed the Participant Profile. The majority of the respondents are between the ages of 21 and 50 years (76%), female (81.2%), White (91.5%), and live in the United States (47.1%). The majority of tumors are in the lower or upper extremity, (22.9%) followed closely by abdominal desmoid tumors (21.5%). Most are willing to donate specimens (89.9%) and participate in trials (97.2%). Ongoing efforts are addressing the demographic differences between the respondents and non-respondents and any selection bias based on access to the registry and study. The Desmoid Tumor Research Foundation Natural History Study is built on the largest desmoid tumors registry and has recruited more desmoid tumors participants since launching in September 2017. It will serve to fill desmoid tumors knowledge gaps and assist other researchers in their recruitment efforts for additional studies.

OBJECTIVE: To evaluate the impact of hormonal therapy on MRI characteristics of desmoid-type fibromatosis on T1-weighted, T2-weighted fat-saturated and post-contrast sequences.
METHODS: Nineteen patients with histologically-proven desmoid-type fibromatosis were prospectively followed up on MR imaging. Eight patients underwent hormonal therapy and 11 were only surveyed. Change in tumor size during follow-up was analyzed according to RECIST. Signal intensity on T1-weighted, T2-weighted fat-saturated and T1-weighted fat-saturated post-contrast images was graded from 0 to 5 using adjacent normal muscle as reference. Findings were compared with tumor growth and treatment option.
RESULTS: There were seven men and 12 women with a mean age of 42.2±16.4 (SD) years (range: 18 - 64 years) yielding twenty-six follow-up periods: eight of tumor progression and 18 of tumor stability/regression (some tumors exhibited more than one behavior type). Hormonal therapy was associated with tumor stability or regression (P=0.0207). There was a significant reduction in enhancement among treated patients with stable/regressing disease (P=0.049). The mean variation in enhancement grade was -1.3±1.2 in these patients. All successfully treated patients presented a reduction in enhancement. Lesions with marked low enhancement or very low signal on T2-weighted images were rare in progressing lesions (0% and 13%).
CONCLUSIONS: Hormonal therapy has an impact on desmoid-type fibromatosis signal characteristics reducing lesion enhancement.

Background To evaluate the efficacy and safety of doxorubicin (ADM) combined with thalidomide (THA) as a first-line treatment for patients with refractory aggressive fibromatosis (AF). Patients and Methods Eligible patients were treated with ADM 30 mg/m2 on days 1-2 and THA 200 mg nightly on days 1-21 every 3 weeks for a maximum of six cycles. THA was then continued for a total of 1 year. The primary end point was response rate (RR). Results Fifteen patients were enrolled in the study. No patient had a complete response, but five patients had partial responses, resulting in a RR of 33%. Eight patients (53%) had stable disease and two patients (13%) had progressive disease, and the disease control rate was 87%. The median progression free survival (mPFS) was 20.6 months (95% confidence interval, 14.5-26.7 months). Patients with below normal baseline serum albumin levels had significantly inferior mPFS compared with those with normal baseline serum albumin (1.4 months versus 23.7 months, P = 0.045). Grade 3/4 toxicities included leukopenia (33%), neutropenia (60%), febrile neutropenia (7%), nausea (7%), and vomiting (6.6%). Conclusions ADM plus THA was well-tolerated and effective as a first-line treatment for patients with refractory AF. However, patients with hypoalbuminemia at baseline had inferior clinical outcomes, and further studies are needed to investigate this issue.

Aim of this study is to evaluate the outcome of long-term conservative treatment with sulindac and high-dose selective estrogen receptor modulators (SERMs) for sporadic and FAP-associated desmoid tumors. Desmoids are very rare tumors in the general population but occur frequently in FAP patients, being encountered in 23-38 %. Treatment of desmoids is still most controversial since response cannot be predicted and they are prone to develop recurrence. This study included all desmoid patients that were treated and followed at our institution and had completed at least 1 year of treatment. Response was defined as stable size or regression of desmoid size between two CT or MRI scans. A total of 134 patients were included. 64 (47.8 %) patients had a confirmed diagnosis of FAP, 69 (51.5 %) patients were sporadic. Overall 114 (85.1 %) patients showed regressive or stable desmoid size. Patients with previous history of multiple desmoid-related surgeries showed less-favorable response. The mean time to reach at least stable size was 14.9 (±9.1) months. After regression or stabilization, medication was tapered in 69 (60.5 %) of the treated patients with only one long-term recurrence after >10 years. The results of this study fortify the role of sulindac and high-dose SERMs as an effective and safe treatment for both, sporadic and FAP-associated desmoid tumors. While invasive treatment frequently results in high recurrence rates, high morbidity and high mortality, this conservative treatment is successful in most patients. The recurrence rate is negligible with no desmoid-related mortality in this large series. Therefore surgical resection, especially for mesenteric desmoids, should be deferred favoring this convincingly effective, well tolerated regimen.

BACKGROUND: A role for the serine to phenylalanine substitution at codon 45 (the S45F mutation) in the catenin (cadherin-associated protein) β-1 (CTNNB1) gene as a molecular predictor of local recurrence in patients with primary, sporadic desmoid tumor (DT) has been reported. To confirm the previous data, the authors evaluated the correlation between CTNNB1 mutation type and local recurrence in this multi-institutional, retrospective study.
METHODS: Patients with primary, sporadic DT who underwent macroscopic complete surgical resection were included. Recurrence-free survival (RFS) analyses were conducted using the Kaplan-Meier method and log-rank tests to compare strata.
RESULTS: In total, 179 patients were identified, including 65% females and 35% males (median age, 39 years; median tumor size, 7 cm). Most DTs were located in the abdominal/chest wall (42%) followed by extra-abdominal sites (40%) and intra-abdominal sites (18%). All patients underwent either R0 resection (62%) or R1 resection (38%), and most underwent surgery alone (80%). The tyrosine to alanine substitution at codon 41 (T41A) was the most frequent mutation (45%), but the S45F mutation was more prevalent in extra-abdominal DTs compared with other sites (P< .001). At a median follow-up of 50 months, 86% of patients remained alive without disease. The estimated 3-year and 5-year RFS rates were 0.49 and 0.45, respectively, for patients who had tumors with the S45F mutation; 0.91 and 0.91, respectively, for patients who had wild-type tumors; and 0.70 and 0.66, respectively, for all others (P< .001). A similar trend was observed for patients who underwent surgery alone (P< .001). On multivariable analysis, mutation remained the only factor that was prognostic for local recurrence.
CONCLUSIONS: This series confirmed that primary, completely resected, sporadic DTs with the S45F mutation have a greater tendency for local recurrence. With increasing implementation of \"watchful-waiting\" for DT management, it will be important to determine whether mutation type predicts outcome for these patients.