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ABSTRACT Objective Material and Methods Results Conclusion To summarize published information about the desmoplastic fibroma of the gnathic bones into a descriptive analysis of the main features of this condition.A systematic review according to the PRISMA guidelines was conducted. Electronic search was performed in four databases and in the gray literature. Case reports and case series were included. Frequencies were obtained for descriptive analysis.We identified 66 articles, for a total of 96 cases. Female patients (55.8%) in the first decade of life (40.6%) with a mean age of 18.2 years were more affected. The mandible was the most affected bone with 81.2% of the cases. The main clinical feature was painless swelling (54.2%). Most of the imaging examinations (radiological, computed tomography, and magnetic resonance) showed well‐defined radiolucencies (65.4%) lesions. The treatment was surgical removal in all cases. The recurrence rate was 10.8% and all in the posterior mandible. Spindle cell fibroblasts in a collagenized stroma were often described in the histopathological features. Vimentin, smooth muscle actin, and β‐catenin were common immunohistochemical markers.Desmoplastic fibroma is a locally aggressive lesion that commonly affects the jaws in children. Histopathology is essential for diagnosis, and the pathogenesis of this tumor should be further investigated. [ABSTRACT FROM AUTHOR]

Magnetic resonance-guided focused ultrasound (MRgFUS) is a noninvasive, incisionless, radiation-free technology used to ablate tissue deep within the body. This technique has gained increased popularity following FDA approval for treatment of pain related to bone metastases and limited approval for treatment of osteoid osteoma. MRgFUS delivers superior visualization of soft tissue targets in unlimited imaging planes and precision in targeting and delivery of thermal dose which is all provided during real-time monitoring using MR thermometry. This paper provides an overview of the common musculoskeletal applications of MRgFUS along with updates on clinical outcomes and discussion of future applications. [ABSTRACT FROM AUTHOR]

Copyright of Revista Foco (Interdisciplinary Studies Journal) is the property of Revista Foco and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Desmoid tumors (DTs) are rare and locally aggressive with a high rate of local recurrence even with optimal surgical resection. Systemic treatments are often utilized for desmoid cases with high risk of surgical morbidity or for local and symptomatic control of recurrent disease. However, the systemic treatment options for DTs are limited with limited responses. Avapritinib is a tyrosine kinase inhibitor (TKI) approved in 2020 for adults with unresectable or metastatic gastrointestinal (GI) stromal tumors (GISTs) harboring a platelet‐derived growth factor receptor alpha (PDGFRA) Exon 18 mutation, including D842V mutations. In this case report, we describe a 55‐year‐old man with a history of D842V‐mutant gastric GIST who presented several years after complete resection of the GIST with an enlarging soft tissue mass in the small intestine. After a nondiagnostic biopsy, the patient was started on avapritinib due to concerns for recurrent D842V‐mutant GIST. The tumor had a partial response to treatment by RECIST 1.1 criteria, and the patient underwent surgical resection. The final pathology report revealed a sporadic DT. To our knowledge, this is the first known description of the activity of avapritinib in the treatment of a sporadic mesenteric DT, which is relevant given the limited treatment options for patients with this diagnosis. This clinical finding may be worth exploring in a dedicated clinical trial. [ABSTRACT FROM AUTHOR]

Background: Desmoid tumor (DT) is a rare locally aggressive but non-metastatic mesenchymal soft tissue neoplasm that predominantly occurs in the abdominal wall, abdominal cavity, and extremities. Its occurrence in the mesentery is relatively uncommon. Case reports: This article reports two cases of desmoid tumor treated at the Department of Gastrointestinal Surgery, Weifang People's Hospital. The first case was a 59-year-old male patient who had previously undergone surgery for esophagogastric junction cancer. Postoperatively, he developed an intraabdominal mass that rapidly increased in size within three months. The second case was a 60-year-old male patient who incidentally discovered a mass in the left lower abdomen. Both patients underwent surgical treatment, and the postoperative pathological diagnosis was mesenteric desmoid tumor. Conclusion: The treatment of desmoid tumor remains challenging. Simple surgical resection often yields unsatisfactory outcomes, and the efficacy of adjuvant radiotherapy and chemotherapy is also limited. Further research and clinical practice are necessary to improve diagnostic and therapeutic strategies, aiming to enhance patient survival and quality of life. [ABSTRACT FROM AUTHOR]

Desmoid tumors (DTs) are non-metastasizing and locally aggressive soft-tissue mesenchymal neoplasms. Those that become enlarged often become locally invasive and cause significant morbidity. DTs have a varied pattern of clinical presentation, with up to 50–60% not growing after diagnosis and 20–30% shrinking or even disappearing after initial progression. Enlarging tumors are considered unstable and progressive. The management of symptomatic and enlarging DTs is challenging, and primarily consists of chemotherapy. Despite wide surgical resection, DTs carry a rate of local recurrence as high as 50%. There is a consensus that contrast-enhanced magnetic resonance imaging (MRI) or, alternatively, computerized tomography (CT) is the preferred modality for monitoring DTs. Each uses Response Evaluation Criteria in Solid Tumors version 1.1 (RECIST 1.1), which measures the largest diameter on axial, sagittal, or coronal series. This approach, however, reportedly lacks accuracy in detecting response to therapy and fails to detect tumor progression, thus calling for more sophisticated methods. The objective of this study was to detect unique features identified by deep learning that correlate with the future clinical course of the disease. Between 2006 and 2019, 51 patients (mean age 41.22 ± 15.5 years) who had a tissue diagnosis of DT were included in this retrospective single-center study. Each had undergone at least three MRI examinations (including a pretreatment baseline study), and each was followed by orthopedic oncology specialists for a median of 38.83 months (IQR 44.38). Tumor segmentations were performed on a T2 fat-suppressed treatment-naive MRI sequence, after which the segmented lesion was extracted to a three-dimensional file together with its DICOM file and run through deep learning software. The results of the algorithm were then compared to clinical data collected from the patients' medical files. There were 28 males (13 stable) and 23 females (15 stable) whose ages ranged from 19.07 to 83.33 years. The model was able to independently predict clinical progression as measured from the baseline MRI with an overall accuracy of 93% (93 ± 0.04) and ROC of 0.89 ± 0.08. Artificial intelligence may contribute to risk stratification and clinical decision-making in patients with DT by predicting which patients are likely to progress. [ABSTRACT FROM AUTHOR]

Copyright of Polish Otorhinolaryngological Review / Polski Przegląd Otorynolaryngologiczny (Index Copernicus) is the property of Index Copernicus International and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Desmoid tumors are locally aggressive, benign neoplasms originating in connective tissues. Although the exact pathophysiology remains unknown, antecedent trauma or surgery are believed to be important contributing factors. The occurrence of paraspinal desmoid tumor in pediatric patients is extremely uncommon. Here, we present an exceedingly rare case of a pediatric patient with no surgical or family history who developed a paraspinal desmoid tumor. A 9-year-old female patient presented with 4 months of progressive back pain, right lower extremity weakness, and numbness. Spinal imaging revealed a left epidural paraspinal mass compressing her thoracic spinal cord and extending into the left thoracic cavity. A multidisciplinary approach with neurosurgery and thoracic surgery enabled gross total resection of the lesion. The patient had complete resolution of her symptoms with no signs of residual tumor on postoperative imaging. Pathology revealed a desmoid tumor that avidly stained for beta-catenin. On her last followup, she developed a recurrence, to which she was started on sorafenib therapy. Desmoid tumors are rare connective tissue neoplasms that often occur after local tissue trauma, such as that caused by surgery. This report presents a rare case of a pediatric paraspinal desmoid tumor that occurred in a patient with no surgical or family history. Such tumors should undergo surgical resection for symptomatic relief and tissue diagnosis. Close clinical and radiographic surveillance are essential in these patients due to the high recurrence rates of desmoid tumor. [ABSTRACT FROM AUTHOR]

Purpose: Desmoid tumor (DT) is a rare monoclonal, fibroblastic proliferation characterized by a variable and often unpredictable clinical course. Initial active surveillance is recommended by current guideline, and surgery is one of the main therapies for DT. Predicting the prognosis and outcome of active surveillance for intra-abdominal DT is pressing issue. Methods: The study included eighteen patients with intra-abdominal DT. Metabolic tumor volume (MTV), total lesion glycolysis (TLG), and maximum standardized uptake value (SUVmax) were measured. We analyzed their relationship with the outcome of active surveillance, as well as clinical, prognostic, and pathological data. Results: The MTV and TLG of recurrent DT were significantly higher than those of non-recurrent DT (P < 0.001 and P = 0.00, respectively). The ROC curve suggested that the appropriate cutoff values for distinguishing recurrent DT from non-recurrent DT were 760.8 for MTV (sensitivity = 1, specificity = 0.857 and AUC = 0.929), and 1318.4 for TLG (sensitivity = 1, specificity = 0.786, and AUC = 0.911). The cutoff values of MTV and TLG significantly correlated with PFS using the Kaplan–Meier method (P = 0.002 and P = 0.007, respectively). MTV and TLG could distinguish DTs with subsequent progression from stable ones (P = 0.004 and P = 0.004, respectively). The ROC curve suggested that the appropriate cutoff values for distinguishing DTs with subsequent progression from stable ones were 197.1 for MTV (sensitivity = 0.9, specificity = 1, and AUC = 0.900), and 445.45 for TLG (sensitivity = 0.9, specificity = 1, and AUC = 0.900). Conclusion: Volume-based 18F-FDG-PET can predict prognosis of intra-abdominal DT. MTV and TLG can predict the outcome of active surveillance for intra-abdominal DT. MTV and TLG can potentially be predictors of surgical risk and difficulty. [ABSTRACT FROM AUTHOR]

Objectives: The development of desmoid tumors (DT) is associated with trauma, which is an aspect with medicolegal relevance. The objective of this study was to analyze the proportion and type of trauma (surgical, blunt/fracture, implants), its lag time, and mutations of the CTNNB1 gene in patients with sporadic DT. Methods: We analyzed a prospectively kept database of 381 females and 171 males, median age at disease onset 37.7 years (females) and 39.3 years (males) with a histologically confirmed DT. Patients with germline mutation of the APC gene were excluded. Details of the history particularly of traumatic injuries to the site of DT were provided by 501 patients. Results: In 164 patients (32.7%), a trauma anteceding DT could be verified with a median lag time of 22.9 months (SD, 7.7 months; range, 9‐44 months). A prior surgical procedure was relevant in 98 patients, a blunt trauma in 35 patients, a punctuated trauma (injections, trocar) in 18 patients, and site of an implant in 10 patients. In 220 patients, no trauma was reported (43.9%), and 58 females (11.6%) had a postpregnancy DT in the rectus abdominis muscle. In 42 patients (8.4%), data were inconclusive. The distribution of mutations in the CTNNB1 gene (codon 41 vs. 45) was similar in patients with and without a history of trauma before DT development. Conclusions: A significant subgroup of patients suffers from a trauma‐associated DT, predominantly at a prior surgical site including implants to breast or groin, accounting for 77.9% of the cases, whereas blunt trauma was responsible in 22.1%. We found no data to support that trauma‐associated DT have different molecular features in the CTNNB1 gene. A significant proportion of patients develop a desmoid tumor (DT) after surgical or blunt trauma with an interval to the incident of almost 2 years. DT at a prior surgical site including implants in breast or groin region is the predominant location. Trauma‐associated DT does not show different molecular features in the CTNNB1 gene compared with nontraumatic DTs. [ABSTRACT FROM AUTHOR]

Introduction: Mesenteric fibromatosis (intra-abdominal desmoid tumor) is rare, with only a few cases reported in the literature. Clinical symptoms range from asymptomatic, nausea, early satiety, abdominal pain, and gastrointestinal bleeding. Although histologically benign, such a tumor may become locally invasive, and aggressive forms contribute to significant morbidity and mortality. Case Presentation: We report the case of a 52-year-old West African male with a 1-year history of intermittent hematochezia and intermittent bloating. Colonoscopy revealed a 4-mm rectal polyp and internal hemorrhoids. Esophagogastroduodenoscopy revealed a severe duodenal stricture 4–5 cm distal to the ampulla. Further work-up with contrast-enhanced computed tomography of the abdomen and pelvis revealed a 5.0 × 3.7 × 4.3-cm mass within the mesentery, encasing the distal portion of the duodenum. Exploratory laparotomy was performed, and the mass was excised from the jejunum. Histopathology findings and immunohistochemical analysis revealed the diagnosis to be mesenteric fibromatosis (desmoid tumor), positive for nuclear β-catenin and SMA, and negative expression of STAT6, desmin, caldesmon, pan-cytokeratin, or c-KIT. The Ki67 index is <1%. Conclusion: This case report highlights the diagnostic challenges of mesenteric fibromatosis due to its nonspecific clinical presentation. Recognizing uncommon presentations of mesenteric fibromatosis and risk factors aids in early diagnosis, management, and treatment. Importantly, this also aids in the prevention of complications such as intestinal obstruction, bowel ischemia, and fistula formation. [ABSTRACT FROM AUTHOR]

Desmoid fibromatosis (DF) is a connective tissue tumor that grows aggressively in musculoaponeurotic tissues. It has an annual incidence rate of 2–4/million and is commonly seen in individuals aged 15 to 60 years, with female predominance. While it can occur in any body part, it is commonly found in the extremities, abdominal wall, and abdominal mesentery. But it rarely develops in the chest wall. The cause of the tumor is unknown. However, trauma to the tumor site has been identified in 25% of known cases. The primary treatment is surgical resection. Local recurrence after surgical excision is common. Our study highlights the case of a 12-year-old male patient diagnosed with a desmoid tumor on the chest wall 2 years ago, at the age of 10 years, after mild trauma. The tumor was successfully managed with surgery without radiotherapy treatment and no recurrence was observed in the last 2 years. [ABSTRACT FROM AUTHOR]

A desmoid tumor (DT) is a rare benign neoplasm arising from muscle aponeurosis, associated mostly with trauma or pregnancy. DT has an infiltrative and locally aggressive growth pattern and usually does not metastasize. However, it has a high recurrence and complication rate. When it occurs in pregnancy, the pregnancy and delivery is taken as an individual case for optimal management by physicians and midwifes, who need to be cautious in finding the optimal delivery mode for the patient, which depends on the tumor size, location, behavior, and past history. The authors report a case of 29-year-old pregnant woman who previously underwent systemic oncological treatment for a large abdominal wall desmoid tumor and became pregnant afterwards. The history of DT presented a follow-up and delivery challenge. Observational management was chosen with an elective cesarean section at week 38 + 4 of pregnancy with uncomplicated postpartum follow-up. The authors detail the clinical management and chosen therapeutic approach; chemotherapy can be a choice in the treatment options for patients with DTs, although the majority of DTs are treated surgically with subsequent mesh plastic. Moreover, the authors provide a systematic review of the literature focused on the treatment management of DTs in pregnant women during pregnancy and the postpartum period, as pregnancy-associated desmoid tumors are a specific condition, where the optimal management is not well established, despite some guidelines for non-pregnant patients. [ABSTRACT FROM AUTHOR]

Background: Precision surgery is becoming increasingly important in the field of Orthopaedic Oncology. Image-guided percutaneous cryosurgery (CRA) has emerged as a valid treatment modality for extra-abdominal desmoid tumors (EDTs). To date, most CRA procedures use CT-based guidance which fails to properly characterize tumor segments. Computer-guided MRI navigation can address this issue however, the lack of a fixed landmark for registration remains a challenge. Successful CRA correlates directly with precision approaches facilitated by intraoperative imaging guidance. This is the first study that attempts to assess the feasibility and efficacy of a novel approach of using skin fiducial markers to overcome the challenge of a MRI-based navigation CRA for symptomatic or progressive EDTs. Methods: In this retrospective study conducted between 2018 and 2020, 11 patients at a single center with symptomatic or progressive EDTs were treated with CRA using intraoperative MRI navigation. Fifteen cryosurgery procedures were performed, each adhering to a personalized pre-operative plan. Total tumor size, viable and non-viable portions pre- and post-operation, and SF-36 questionnaire evaluating subjective health were recorded. Results: All CRAs demonstrated 100% adherence to the predetermined plan. Overall, tumor size decreased Median= -56.9% [-25.6, -72.4]) with a reduction in viable tissue, (Median= -80.4% [-53.3, -95.2]). Four patients required additional CRAs. Only one patient's tumor did not reduce in size. One patient suffered from local muscle necrosis. Pre-operation, the average physical and mental scores 41.6 [29.4, 43] and 26.3 [17.6, 40.9] respectively. Post-operation, the average physical and mental scores were 53.4[38, 59.7] and 38 [31.2, 52.7] respectively. Conclusion: These findings provide an early indication of the feasibility and efficacy of performing percutaneous cryosurgery using skin fiducial marker registration for MRI-computed navigation to treat EDTs safely. Larger cohorts and multicenter evaluations are needed to determine the efficacy of this technique. [ABSTRACT FROM AUTHOR]

In patients with desmoid tumors (DTs), active surveillance has been increasingly preferred over surgery, while treatment (including pharmacological therapy, radiotherapy, and/or surgery) is performed in cases with confirmed disease progression. This study aimed to evaluate event-free survival and pain management according to different treatment strategies. We evaluated event-free survival, including recurrence after initial surgical treatment or changes in the therapeutic management after initial non-surgical treatment and pain management according to different treatment strategies. All patients referred for DT in 2001–2021 at our institutions were stratified into four groups: those treated surgically prior to 2012 (SGPre12) or after 2012 (SGPost12), those treated pharmacologically (MG), and those under active surveillance (ASG). An event was defined as recurrence after initial surgical treatment or a change in therapeutic management. Overall, 123 patients were included in the study: 28 in SGPre12, 41 in SGPost12, 38 in MG, and 16 in ASG. Pharmacological treatment resolved painful symptoms in 16/27 (60%) patients (p = 0.0001). The median follow-up duration was 40 months (IQR 23–74). Event-free survival at 1, 3, and 5 years was: 85%, 70%, and 62% in SGPre12; 76%, 58%, and 49% in SGPost12; 49%, 31%, and 31% in MG; and 45%, 45%, and 45% in ASG. Our findings support the role of active surveillance as initial management, as demonstrated by the fact that about half the patients did not experience any progression, while surgery can be reserved as a first-line approach for selected patients. In terms of pain relief, medical therapy led to symptom resolution in more than half the cases. [ABSTRACT FROM AUTHOR]

Desmoid fibromatosis is a myofibroblastic neoplasm of intermediate biologic potential, which has a strong predilection for local recurrence but does not metastasize. Arranged in long, sweeping fascicles with infiltrative borders, desmoid fibromatosis typically consists of uniform, bland myofibroblastic spindle cells that harbor mutation of CTNNB1 (or less often APC). In this report, we present a remarkable case of desmoid fibromatosis associated with striking nuclear pleomorphism. We hypothesize that this striking pleomorphism is due to a germline TP53 mutation, a finding first suspected due to strong and diffuse p53 staining by immunohistochemistry and subsequently confirmed by molecular testing. The combination of the pleomorphism and TP53 mutation in desmoid fibromatosis represents a novel finding unreported in the literature. [ABSTRACT FROM AUTHOR]

Desmoid tumors (DT) are rare benign tumors with a local invasion potential and recurrence. It is characterized on histology by an abnormal fibroblastic proliferation in a collagenous stroma, in variable proportions leading to heterogeneity of the lesion signal on magnetic resonance imaging (MRI). Current guidelines propose watchful waiting but in case of progression or symptoms, cryotherapy may be a therapeutic option in its extra-abdominal form. Tumor recurrence is mostly detected based on post-contrast magnetic resonance imaging (MRI). Although DWI sequence is the key-sequence for tumor detection in oncologic imaging, there are very few data in literature on diffusion weighted imaging (DWI) in DT generally and even fewer on DT after cryotherapy. DWI changes after cryotherapy may be confusing and suspicious of residual tumor or tumor recurrence when displaying low ADC values; thus knowledge of possible DWI patterns after cryotherapy of DT seem paramount. We found that the early changes of DT after cryotherapy are hyperintensity on DWI sequence with low ADC values (<1.00 × 10−3mm2/s), without corresponding enhancement and a later decrease in signal of the treated lesion on DWI. The freezing-thawing cycles of cryotherapy turn DT into gelatinous necrosis with a slow resorption rate, as reported in the only few studies referring of changes of DWI signals after cryotherapy, which are on renal and prostate models. Hyperintensity on DWI with low ADC values may be seen in early MRI follow-up after cryotherapy of extra-abdominal DT, corresponding with tumor necrosis changes and should not be mistaken with recurrence. Magnetic resonance imaging is the modality of choice for desmoid tumor (DT) follow-up, mainly based on contrast uptake which make data on diffusion weighted imaging (DWI) very rare. Cryotherapy is an accepted therapeutic option for DT that will lead to tumor necrosis. Hyperintensity on DWI with low apparent diffusion coefficient values is a possible expected early pattern on DWI after cryotherapy of DT. [ABSTRACT FROM AUTHOR]

To investigate the safety and efficacy of iodine-125 seed implantation in the treatment of abdomen-thorax desmoid tumors (DTs). Data from 14 DT patients who received brachytherapy with iodine-125 seeds were retrospectively collected from 2014 to 2020. The operation was completed using CT guidance and the treatment plan system (TPS). The number of lesions and the target dosimetry parameters were recorded. After brachytherapy, the lesions were evaluated using response evaluation criteria in solid tumors (RECIST). Fourteen patients with 18 lesions were enrolled in this study; eleven lesions were in the thorax, seven were in the abdomen, and the lesion gross tumor volume (GTV) was 82.10 cc (interquartile range [IQR]: 40.37, 203.42 cc). The median number of seeds was 88 (IQR: 35, 158), and the median prescription dose was 120 Gy (IQR: 115, 120 Gy). The D 90 was 123 ± 16.7 Gy, the V 90 was 97% (IQR: 95.00, 97.25%), and the V 200 was 27% (IQR: 14.50, 33.00%). The median follow-up time for each lesion was 34 (IQR: 23, 67) months, and the local response rate was 100%. Following brachytherapy, the overall survival was 52.3 ± 30.72 months. One year after brachytherapy, one patient experienced persistent worsening of a brachial plexus injury; another received a ureteral stent. No brachytherapy-related complications were observed in the remaining patients. Iodine-125 brachytherapy is a novel treatment option for DT of the abdomen and thorax. Although it is a safe and effective treatment, the radiation dose of iodine-125 brachytherapy for DT-embedded organs at risk must be investigated further. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Desmoid tumor (DT) is a rare neoplasm characterized by the proliferation of myofibroblastic cells that infiltrates and invades adjacent tissues. Due to its locally aggressive and recurrent nature, DT often causes local symptoms and can be challenging to manage clinically. Therefore, identifying biomarkers that can predict the progression of DT and guide treatment decisions is critical. This review summarizes several biomarkers that have been implicated in active surveillance (AS) and the prediction of postoperative recurrence and attempts to elucidate their underlying mechanisms. Some of these novel markers could provide prognostic value for clinicians, and ultimately help facilitate optimal and accurate therapeutic decisions for DT. [ABSTRACT FROM AUTHOR]

Deep fibromatosis is a locally aggressive neoplasm commonly involving the extremities. Several authors have described imaging features and complications associated with deep fibromatosis. We present the case of a 33-year-old man who presented with a right gluteal fibrous mass identified on magnetic resonance imaging (MRI), which was associated with a pseudoaneurysm originating from the right superior gluteal artery on serial follow-up with MRI and computed tomography. No intervention was done, and after conservative management, spontaneous thrombosis of the pseudoaneurysm was developed. Such imaging finding is the first report of a spontaneous development of pseudoaneurysm caused by deep fibromatosis, which could be a life-threatening condition and should be considered when dealing with deep fibromatosis and deciding on the appropriate treatment. [ABSTRACT FROM AUTHOR]

Anterior abdominal wall fibromatosis is a benign soft tissue tumor that is rare, but fast-growing with minimal chances of malignant change. We report a young female with a large abdominal swelling which on evaluation was provisionally diagnosed as anterior abdominal wall fibromatosis on imaging and confirmed by histopathology. She was successfully managed with resection of the tumor with a challenging abdominal wall reconstruction with bilateral inferiorly based external oblique muscle flap followed by a mesh repair. Though rare, these tumors are difficult to miss. The importance of this case report is that it describes the methods of multimodal management of a patient with surgery, reconstruction, and adjuvant therapy leading to better patient outcomes. [ABSTRACT FROM AUTHOR]

Sporadic intra-abdominal desmoid tumors are rare and known to potentially occur after trauma including previous surgery, although knowledge of the underlying pathogenetic mechanism is still limited. We reviewed the recent literature on sporadic intraabdominal desmoids and inflammation as we investigated the mutational and epigenetic makeup of a case of multiple synchronous mesenterial desmoids occurring after necrotizing pancreatitis. A 62-year-old man had four mesenteric masses up to 4.8 cm diameter detected on CT eighteen months after laparotomy for peripancreatic collections from necrotizing pancreatitis. All tumors were excised and diagnosed as mesenteric desmoids. DNA from peripheral blood was tested for a multigene panel. The tumour DNA was screened for three most frequent β-catenin gene mutations T41A, S45F and S45P. Expression levels of miR-21-3p and miR-197-3-p were compared between the desmoid tumors and other wild-type sporadic desmoids. The T41A CTNNB1 mutation was present in all four desmoid tumors. miR-21-3p and miR-197-3p were respectively upregulated and down-regulated in the mutated sporadic mesenteric desmoids, with respect to wild-type lesions. The patient is free from recurrence 34 months post-surgery. The literature review did not show similar studies. To our knowledge, this is the first study to interrogate genetic and epigenetic signature of multiple intraabdominal desmoids to investigate potential association with abdominal inflammation following surgery for necrotizing pancreatitis. We found mutational and epigenetic features that hint at potential activation of inflammation pathways within the desmoid tumor. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

The infiltrative growth pattern of desmoid tumors and their proximity to important anatomical structures make them difficult to manage. Mutilating surgery should be avoided, while surveillance or radiotherapy remain valid options. [ABSTRACT FROM AUTHOR]

Desmoid tumors are locally aggressive soft tissue tumors with variable clinical presentation. As is the case with most relatively rare tumors, a multidisciplinary team approach is required to best manage these patients. Surgical resection, systemic therapy, and radiation therapy have classically been mainstays of treatment for desmoid tumors; however, a more conservative "wait-and-see" approach has been adopted given their high recurrence rates and significant morbidity associated with the aforementioned therapies. Given the challenges of classical treatment methods, interventional radiologists have begun to play a significant role in minimally invasive interventions for desmoid tumors. Herein, the authors review imaging characteristics of desmoid tumors, current management recommendations, and minimally invasive therapeutic intervention options. [ABSTRACT FROM AUTHOR]

Desmoid tumors are rare locally aggressive myelodysplastic tumors that are usually abdominally based. They account for 0.2% of breast tumors. Certain factors like prior surgery, familial adenomatous polyposis, pregnancy, and high estrogen states are associated with chest wall desmoid tumor occurrence. We present a patient with a history of intraductal carcinoma of the left breast who underwent mastectomy with implant-based reconstruction who had a desmoid tumor of the breast detected during workup for cardiac transplantation for chemotherapy-induced heart failure. The tumor was originally thought to be recurrent breast cancer during workup with imaging obscured by the implant. Excisional biopsy demonstrated a desmoid tumor with a positive deep margin requiring rib resection, synthetic mesh, and pectoralis major flap reconstruction. Breast desmoid tumors are reactive malignancies that have been diagnosed after prior breast implant surgery but without an established risk associated with breast implants. Excision with microscopically negative margins and chest wall reconstruction when indicated is the current established treatment protocol; however, recent paradigm shifts include "watchful waiting" and medical management among treatment strategies. [ABSTRACT FROM AUTHOR]

Re-expansion pulmonary edema is a potentially life-threatening situation following thoracic surgery of a compromised lung. We report the case of a 24-year-old female scheduled for a resection of a large intrathoracic desmoid tumor that presented with re-expansion pulmonary edema at the conclusion of her surgery and discuss the clinical presentation, mechanism and predictors of this entity and review similar cases reported in the literature. [ABSTRACT FROM AUTHOR]

Desmoid tumors are characterized by indolent growth, progressive invasion of surrounding tissues and a high rate of relapse. We present the case of a desmoid tumor rising from the trapezius of a young woman. Following resection, we performed a functional reconstruction using an innervated gracilis free flap. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Introduction: In our study, patients who applied for abdominal wall mass and pain after cesarean section and were examined and treated and diagnosed endometriosis were evaluated in terms of age, body mass index (BMI), number of cesareans, clinical signs, size of endometriosis and surgical characteristics, as well as therapy and results. Methods: January 2001-December 2021 in our clinic after cesarean section, surgery due to a painful mass in the abdominal wall and pathologically diagnosed endometriosis cases were retrospectively investigated. Age, number of cesareans, clinical signs, size of endometriosis and surgical characteristics and therapy results were recorded. Four patients were diagnosed with endometriosis with a tru-cut biopsy. All patients underwent primary mass excision. Results: A total of 14 patients were identified. The average age of the patients was 35.9 and the average BMI was 26.81. All patients were admitted with a painful mass at the cesarean site. Only four patients had multiple cesarean sections. Ultrasonography and abdominal computed tomography were evaluated. Desmoid tumor, foreign body reaction, granuloma, abscess and endometriosis were identified in their preliminary diagnosis. Endometriosis was established by tru-cut biopsy in four patients. Primary mass excision was performed for all the patients. In one patient, prolene mesh repair was performed, while in other patients primary repair was performed. In all patients, pathological diagnosis was reported as endometriosis ekstarna. Conclusion: The diagnosis of endometriosis should be kept in mind when diagnosing patients with pain and/or mass complaints at the site of surgery after cesarean section. [ABSTRACT FROM AUTHOR]

A 15-year-old male with a mesenteric desmoid tumor and underlying familial adenomatous polyposis presented 2 weeks after initiating sorafenib with severe abdominal pain and chills and was found to have an acute abdomen. Exploratory laparotomy revealed a necrotic, ruptured tumor with impending small bowel obstruction. The patient was later able to resume sorafenib and experienced sustained a radiographic response. It is possible that sorafenib toxicity contributed to tumor rupture yet later provided clinical benefit. Here we review the gastrointestinal complications that are associated with intra-abdominal desmoid tumors and their therapies. [ABSTRACT FROM AUTHOR]

Aggressive fibromatosis is proliferation of well‐differentiated fibroblasts. Submandibular region is rare location for fibromatosis. We report a case of a rapidly growing mass in submandibular region of 5‐year‐old girl, excised surgically and ascertained to be aggressive fibromatosis on histological examination. Recovery was uneventful, and she was disease‐free in 6‐month follow‐up. [ABSTRACT FROM AUTHOR]

Cancer precision medicine implies identification of tumor-specific vulnerabilities associated with defined oncogenic pathways. Desmoid tumors are soft-tissue neoplasms strictly driven byWnt signaling network hyperactivation. Despite this clearly defined genetic etiology and the strict and unique implication of the Wnt/ß-catenin pathway, no specific molecular targets for these tumors have been identified. To address this caveat, we developed fast, efficient, and penetrant genetic Xenopus tropicalis desmoid tumor models to identify and characterize drug targets. We used multiplexed CRISPR/Cas9 genome editing in these models to simultaneously target a tumor suppressor gene (apc) and candidate dependency genes. Our methodology CRISPR/Cas9 selection-mediated identification of dependencies (CRISPR-SID) uses calculated deviations between experimentally observed gene editing outcomes and deep-learning-predicted double-strand break repair patterns to identify genes under negative selection during tumorigenesis. This revealed EZH2 and SUZ12, both encoding polycomb repressive complex 2 components, and the transcription factor CREB3L1 as genetic dependencies for desmoid tumors. In vivo EZH2 inhibition by Tazemetostat induced partial regression of established autochthonous tumors. In vitro models of patient desmoid tumor cells revealed a direct effect of Tazemetostat on Wnt pathway activity. CRISPR-SID represents a potent approach for in vivo mapping of tumor vulnerabilities and drug target identification. [ABSTRACT FROM AUTHOR]

Desmoid tumor is considered a benign neoplasm, yet substantial morbidity can result from local invasion of structures adjacent to the tumor or from complications related to its treatment. We report two patients with extremity desmoid tumor who were each found at MRI to have an unsuspected pseudoaneurysm within their tumor after prior treatments (surgery and systemic therapy in one, surgery alone in the other). Such a pseudoaneurysm probably results from weakening of an arterial wall by adjacent desmoid tumor, as well as from local trauma. Due to the potential risk for life-threatening rupture of a pseudoaneurysm, one patient underwent surgical repair and the other, coil embolization. To our knowledge the presence of pseudoaneurysm has been reported within a few cases of abdominal desmoid tumor but not within an extremity desmoid tumor. This diagnosis has not been reported to have been made at MRI, either. [ABSTRACT FROM AUTHOR]

Desmoid fibromatosis (DF) is a locally aggressive, not metastasizing tumor associated with high local recurrence rates. Surgery was a standard-of-care for DF treatment; however, recently, conservative treatment and active surveillance are preferred. This study aimed to evaluate the real-life outcomes of DF treatment. All consecutive patients diagnosed with DF and treated between 01.1999 and 12.2018 at one sarcoma reference institution were included in this retrospective analysis. Kaplan-Meier estimator, long-rank test, Cox regression model, and Chi2 tests were used for statistical analyses. The analyses included 363 patients (254 female, 109 male). 195 patients (53.7%) underwent surgical resection, and 139 (38.3%) experienced a watch-and-wait approach with or without concomitant therapy with nonsteroid anti-inflammatory drugs (NSAIDs) in the first line. Disease recurrence/progression occurred in 43.2% of patients treated with surgery and 42.6% in the watch-and-wait group, resulting in 5-year event-free survival (EFS) rates of 60% and 55%, respectively. There was no difference in EFS between both groups (HR1.28, 95%CI 0.91–1.79). Surgery without prior biopsy and extra-abdominal wall location was associated with inferior outcomes. Results of DF treatment in our center showed that watch-and-wait approach ± NSAIDs has similar efficacy to upfront surgery and allows to avoid unnecessary surgery in approximately half of the patients, primarily when tumors are located in unfavorable sites, like extremities. [ABSTRACT FROM AUTHOR]

Introduction: Desmoid tumor (DT) is a rare neoplasm with high local recurrence rates, composed of fibroblastic cells that are characterized by the expression of key molecules, including the intermediate filament vimentin, cyclooxygenase-2 (COX-2), and nuclear β-catenin, and lack of epithelial markers. Circulating tumor cells (CTCs) isolated from the peripheral blood of patients with sarcomas and other neoplasms can be used as early biomarkers of tumor invasion and dissemination. Moreover, CTCs can also re-colonize their tumors of origin through a process of "tumor self-seeding." Objectives: We aimed to identify CTCs in the peripheral blood of patients with DT and evaluate their expression of β-catenin, transforming growth factor receptor I (TGF-βRI), COX-2, and vimentin proteins. Material and Methods: We conducted a prospective study of patients with initial diagnosis or relapsed DT with measurable disease. Blood samples from each patient were processed and filtered by ISET® (Rarecells, France) for CTC isolation and quantification. The CTC expression of β-catenin, COX-2, TGF-βRI, and vimentin was analyzed by immunocytochemistry (ICC). Results: A total of 18 patients were included, and all had detectable CTCs. We found a concordance of β-catenin expression in both CTCs and primary tumors in 42.8% (6/14) of cases by using ICC and immunohistochemistry, respectively. Conclusions: Our study identified a high prevalence of CTCs in DT patients. Concordance of β-catenin expression between primary tumor and CTCs brings new perspectives to assess the dynamics of CTCs in the blood compartment, opening new avenues for studying the biology and behavior of DT. In addition, these results open the possibility of using CTCs to predict DT dynamics at the time of disease progression and treatment. Further studies with larger sample sizes are needed to validate our findings. [ABSTRACT FROM AUTHOR]

To evaluate the safety and efficacy of ultrasound-guided high-intensity focused ultrasound (USgHIFU) ablation for desmoid tumors (DTs). A total of 111 patients with histologically proven DTs were included and treated by USgHIFU ablation. Adverse events were continuously evaluated according to the Common Terminology Criteria for Adverse Events (CTCAE) v5.0 until 3 months after treatment. The incidence of non-perfused areas within the treated tumors, non-perfused volume rate (NPVR) and tumor volume reduction were evaluated using contrast-enhanced MRI before and one week and 3 months after the procedure. The enrolled patients (32 male, 79 female, mean age 29.5 ± 1.0 years) with 145 DTs (118 extra-abdominal, 16 abdominal wall, 11 intra-abdominal; median maximum diameter: 9.6 cm, range: 3–34.5 cm) underwent 188 sessions of HIFU ablation, and the mean number of ablations was 1.7 (range, 1–7) per patient. In majority of cases (143/145 cases, 98.6%), no serious adverse events were observed. There was no significant difference in the incidence of adverse events between patients who received a single treatment and those who received multiple treatments. Non-perfused area was observed within every treated tumor, and the median NPVR was 84.9% (range, 1.9–100%). The tumor volume reduction rate was 36.1 ± 4.2% at 3 months after treatment. USgHIFU ablation, as a noninvasive and easily repeatable local treatment, is a promising treatment for DTs. [ABSTRACT FROM AUTHOR]