Desmoid-type fibromatosis in an uncommon location: A case report of shoulder involvement misdiagnosed as rhabdomyosarcoma.

INTRODUCTION AND IMPORTANCE: Desmoid-type fibromatosis is an uncommon tumor characterized by its local invasiveness, with shoulder involvement being notably infrequent. The optimal treatment strategy for this tumor remains a topic of ongoing debate. CASE PRESENTATION: A 47-year-old Tunisian woman with a history of hypothyroidism, presented with pain and swelling in her left shoulder for a year. Examination revealed a firm, painful 4 cm mass, and MRI showed a poorly defined intramuscular tumor in the deltoid muscle, initially suspected to be rhabdomyosarcoma. However, surgical biopsy confirmed desmoid-type fibromatosis of the shoulder. The patient underwent surgical wide en-bloc resection of the tumor. The patient's recovery was uneventful, and she received physical therapy. At the three-year follow-up, she reported residual shoulder pain after heavy lifting, improving with analgesics. Examination showed no neurological deficits and a Constant score of 83 out of 100. CLINICAL DISCUSSION: Due to their deep-seated nature and infiltrative growth patterns into neighboring subcutaneous tissues or muscles, along with the presence of myxoid or fibrotic components, desmoid-type fibromatosis can present challenges in distinguishing them from malignant soft tissue neoplasms based on imaging characteristics. CONCLUSIONS: While radiologic evaluations may indicate characteristics suggestive of a malignant soft tissue tumor, histological confirmation is imperative prior to initiating surgical intervention. Continued research into the optimal treatment approaches for desmoid-type fibromatosis is essential for improving future patient outcomes and quality of life.

Desmoplastic Fibroma of the Gnathic Bones-A Systematic Review.

OBJECTIVE: To summarize published information about the desmoplastic fibroma of the gnathic bones into a descriptive analysis of the main features of this condition. MATERIAL AND METHODS: 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. RESULTS: 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 ß-catenin were common immunohistochemical markers. CONCLUSION: 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.

Examining nirogacestat for adults with progressing desmoid tumors who require systemic treatment.

INTRODUCTION: Desmoid tumor (DT) is a rare, locally aggressive, mesenchymal neoplasm that can arise at any site in the body. Medical therapies play a major role for DT's patients requiring treatment. A novel systemic approach has recently emerged with Nirogacestat, a γ-secretase inhibitor targeting the NOTCH signaling pathway. AREAS COVERED: Nirogacestat is the first drug in its class to receive approval from the Food and Drug Administration (FDA) and is the first FDA-approved treatment specifically for DTs. We reviewed the data leading to its discovery, including its mechanism of action, pharmacological properties, clinical efficacy, and its positioning within the current treatment armamentarium for DTs. EXPERT OPINION: High-quality evidence for systemic therapies in the management of DTs remains an unmet need. Nirogacestat now joins sorafenib as the only drugs with efficacy in DTs demonstrated by randomized phase 3 studies. Currently, there are no comparative trials of the available systemic therapies. Therefore, physicians should consider factors such as drug accessibility, cost, toxicity profile, comorbidities, and patient preferences when selecting treatment. Long-term efficacy and safety data will be essential for evaluating the duration of treatment response and monitoring late-onset side effects of Nirogacestat.

Desmoid Tumor after Sleeve Gastrectomy: Case Report and Literature Review.

Desmoid tumor is a rare mesenchymal neoplasm of unknown etiology. Despite rare, the diagnosis of desmoid tumors after bariatric surgery is increased over the last few years. We report a case of a 26-year-old male with complains of abdominal pain and postprandial fullness, diagnosed with a locally advanced large intra-abdominal mass (40 × 21 × 11.7 cm) centered in the mesentery, developed 3 years after sleeve gastrectomy. Percutaneous biopsy was suggestive of a mesenquimatous tumor and the patient underwent surgery. R0 surgical resection was achieved, despite intimal contact and common vascularization with a jejunal loop. Histopathology examination of the surgical specimen revealed fusiform to stellate cells with mild atypia, thin-walled vessels, and diffuse beta-catenin expression (negative for DOG-1, CD117, CD34, S100, desmin, and alpha-actin). The diagnosis of a desmoid tumor was made. The patient remained asymptomatic, and no recurrence occurred over a 4-year follow-up. With the increasing number of bariatric surgeries, owing to the alarming growing incidence of obesity and related conditions, it is expected that desmoid tumors reports will gradually increase over the next few years. Thus, both gastroenterologists and surgeons should be aware of the potential for desmoid tumor development shortly after surgery, to offer a prompt diagnosis and treatment.

O tumor desmóide é uma neoplasia mesenquimatosa rara de etiologia desconhecida. Apesar de raros, temos assistido a um aumento do número de diagnósticos, ao longo dos últimos anos, de tumores desmóides que se desenvolvem após cirurgia bariátrica. Descrevemos o caso de um homem de 26 anos com queixas de dor abdominal e enfartamento pós-prandial, diagnosticado com uma massa intra-abdominal centrada no mesentério (40 × 21 × 11.7 cm), localmente avançada, 3 anos após ter realizado gastrectomia vertical. Foi efetuada biópsia percutânea, cujo resultado foi sugestivo de tumor mesenquimatoso e o paciente foi referenciado para cirurgia. O doente foi submetido a cirurgia e o tumor foi passível de ressecção cirúrgica R0, apesar de contacto íntimo e vascularização comum com uma ansa jejunal. O exame anatomopatológico revelou células fusiformes a estreladas com atipia ligeira e vasos de parede fina, bem como expressão difusa de beta-catenina (na ausência de expressão de DOG-1, CD117, CD34, S100, desmina e alfa-actina), sendo compatível com o diagnóstico de um tumor desmóide. O doente permanece assintomático e sem evidência de recidiva ao longo de 4 anos de vigilância. Com o aumento do número de cirurgias bariátricas devido ao aumento alarmante da incidência de obesidade e condições relacionadas, espera-se que os diagnósticos de tumores desmóides aumentem nos próximos anos. Assim, tanto gastroenterologistas quanto cirurgiões devem estar alerta para o desenvolvimento desta entidade, de forma a oferecer um diagnóstico e tratamento adequado e atempado.

Initial treatment for surgery-naïve desmoid tumors by high intensity focused ultrasound.

Introduction: Desmoid tumor (DT) is a rare proliferative disease occurring in connective tissues, characterized by high infiltration and recurrence rates. While surgery remains the primary treatment, its recurrence risk is high, and some extra-abdominal desmoid tumors are inoperable due to their locations. Despite attempts with radiotherapy and systemic therapy, the efficacy remains limited. Methods: We used low-power cumulative high-intensity focused ultrasound (HIFU) therapy as an initial treatment for desmoid tumor patients either ineligible or unwilling for surgery. Low-power cumulative HIFU employs slower heat accumulation and diffusion, minimizing damage to surrounding tissues while enhancing efficacy. Results: Fifty-seven non-FAP desmoid tumor patients, previously untreated surgically, underwent low-power cumulative HIFU therapy. Among them, 35 had abdominal wall DT, 20 had extra-abdominal DT, and 2 had intra- abdominal DT, with an 85% median ablation ratio. Abdominal wall DT patients showed significantly better response rates (91.4% vs. 86%) and disease control rates (100% vs. 32%) than that of non-abdominal wall DT patients. Median event- free survival time was not reached after a median follow-up duration of 34 months. Discussion: With its high response rate, durable efficacy, and mild adverse effects, our findings suggest that low-power cumulative HIFU presents a promising novel treatment for desmoid tumors, particularly abdominal wall DT patients.

Management of a Large Abdominal Desmoid Tumor Complicated by Lymphedema of the Lower Limb: A Case Report.

Desmoid tumors, while generally benign histologically, can exhibit locally aggressive behavior, especially when located in the anterior abdominal wall. This case report explores the management of a rare giant desmoid tumor complicated by concurrent lymphedema, emphasizing the nuances of diagnosis, treatment decisions, and their impact on the patient's quality of life. The patient, a 55-year-old obese individual with a BMI of 47, presented with a 25 cm mass in the right paraumbilical region, alongside significant lymphedema in the right lower limb and associated inguinal lymphadenopathy. Abdominal CT revealed a well-defined soft tissue mass in the right paramedian hypogastric region, suggestive of a desmoid tumor. Surgical intervention involved a monobloc resection of the mass with a 5 cm lateral margin, including the right rectus abdominis muscle and associated aponeuroses, and subsequent reconstruction using a biface intraperitoneal synthetic mesh. Postoperative recovery was marked by the resolution of lymphedema and a return to full function of the affected limb. Histopathological examination confirmed the diagnosis of a desmoid tumor. This case underscores the importance of radical surgical resection with adequate margins and appropriate reconstruction to achieve favorable long-term outcomes. The report provides insights for future research and therapeutic advancements in the management of desmoid tumors.

Aggressive fibromatosis of the sigmoid colon: A case report.

BACKGROUND: Aggressive fibromatosis (AF), also known as desmoid tumor or desmoid-type fibromatosis, is a rare soft tissue neoplasm that can occur in almost any part of the body. Although it is a benign disease, AF is aggressive and infiltrative and has a high recurrence rate after surgery. Common sites for intra-abdominal AF are the small bowel mesentery, retroperitoneum, and pelvis. AF in the colon is extremely rare. CASE SUMMARY: Here, we report the first case of sigmoid colon AF, which was accidentally discovered in a 27-year-old woman during laparoscopic myomectomy. Computed tomography confirmed a slightly enhanced mass in the sigmoid colon. Subsequent colonoscopy did not reveal a mass in the colonic lumen, but a suspected external compress was found in the sigmoid colon. Surgical disease involving a gastrointestinal stromal tumor was suspected. The patient underwent laparoscopic exploration, and sigmoidectomy with a negative margin was performed to excise the mass. Postoperative immunohistochemistry revealed that the mass was an AF. The patient recovered well and was recurrence-free at the 30-month follow-up without adjuvant therapy. CONCLUSION: AF should be considered in the differential diagnosis of subepithelial colon masses. Radical resection alone can achieve good outcomes.

First Description of the Clinical Activity of Avapritinib in Sporadic Mesenteric Desmoid Tumor.

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.

Extensive Lateral Cervical Desmoid Tumor Dependent on the Levator Scapulae Muscle Involving the Vertebral Artery Treated by Surgical Resection and Intraoperative Navigation: A Case Report and Review of the Literature.

Desmoid tumors are rare, benign, but locally aggressive fibromatoses that pose significant therapeutic challenges, particularly when located in the head and neck region. This report details the case of an extensive cervical desmoid tumor dependent on the levator scapulae muscle and involving the vertebral artery managed through surgical resection and intraoperative navigation. A 45-year-old male presented with a slowly growing cervical mass. Imaging revealed an 83x68x40 mm mass in the right lateral paravertebral space, dependent on the levator scapulae muscle and involving the vertebral artery. Biopsy confirmed a low-grade fusocellular myofibroblastic neoplasm consistent with a desmoid tumor. Given the poor prognosis associated with the symptomatic mass, surgical resection was performed using Brainlab intraoperative navigation (Brainlab, Munich, Germany). The procedure was successful, with preservation of vital structures and no evidence of recurrence postoperatively. Desmoid tumors in the head and neck region, though rare, require precise diagnostic and therapeutic approaches due to their aggressive nature and proximity to critical anatomical structures. The use of intraoperative navigation, in this case, facilitated accurate tumor resection, minimizing damage to surrounding tissues. Pathological analysis revealed a CTNNB1 gene mutation, specifically the S45P variant, which is associated with an increased risk of recurrence. This case highlights the importance of a multidisciplinary approach, incorporating advanced surgical techniques and genetic analysis, in the management of complex desmoid tumors. Intraoperative navigation proved invaluable in achieving successful surgical outcomes, underscoring its potential utility in similar cases. Continued follow-up is essential, given the potential for recurrence associated with desmoid tumors.

Prognostic impact of tumor location and gene expression profile in sporadic desmoid tumor.

PURPOSE: Prognostic biomarkers remain necessary in sporadic desmoid tumor (DT) because the clinical course is unpredictable. DT location along with gene expression between thoracic and abdominal wall locations was analyzed. METHOD: Sporadic DT patients (GEIS Registry) diagnosed between 1982 and 2018 who underwent upfront surgery were enrolled retrospectively in this study. The primary endpoint was relapse-free survival (RFS). Additionally, the gene expression profile was analyzed in DT localized in the thoracic or abdominal wall, harboring the most frequent CTNNB1 T41A mutation. RESULTS: From a total of 454 DT patients, 197 patients with sporadic DT were selected. The median age was 38.2 years (1.8-89.1) with a male/female distribution of 33.5/66.5. Most of them harbored the CTNNB1 T41A mutation (71.6 %), followed by S45F (17.8 %) and S45P (4.1 %). A significant worse median RFS was associated with males (p = 0.019), tumor size ≥ 6 cm (p = 0.001), extra-abdominal DT location (p < 0.001) and the presence of CTNNB1 S45F mutation (p = 0.013). In the multivariate analysis, extra-abdominal DT location, CTNNB1 S45F mutation and tumor size were independent prognostic biomarkers for worse RFS. DTs harboring the CTNNB1 T41A mutation showed overexpression of DUSP1, SOCS1, EGR1, FOS, LIF, MYC, SGK1, SLC2A3, and IER3, and underexpression of BMP4, PMS2, HOXA9, and WISP1 in thoracic versus abdominal wall locations. CONCLUSION: Sporadic DT location exhibits a different prognosis in terms of RFS favoring the abdominal wall compared to extra-abdominal sites. A differential gene expression profile under the same CTNNB1 T41A mutation is observed in the abdominal wall versus the thoracic wall, mainly affecting the Wnt/ß-catenin, TGFß, IFN, and TNF pathways.

Local Treatment of Desmoid Tumors: An Update.

Desmoid tumors (DTs) are rare fibroblastic proliferations, characterized by infiltrative growth and a propensity for local recurrence. Traditional strategies such as surgery, radiotherapy, and chemotherapy are the mainstays of treatment, each with its limitations and associated risks. The trend in DT management leans toward a "wait-and-see" strategy, emphasizing active surveillance supported by continuous MRI monitoring. This approach acknowledges the unpredictable nature of the disease, and a multidisciplinary management of DT requires a nuanced approach, integrating traditional therapies with emerging interventional techniques. This review highlights the emerging role of minimally invasive interventional radiological technologies and discusses interventional radiology techniques, including chemical, radiofrequency, microwave, cryoablation, and high-intensity focused ultrasound ablations as well as transarterial embolization.

Representations of illness and treatments in patients with desmoid tumors: A thematic content analysis of a qualitative study.

PURPOSE: Desmoid tumors are a rare and complex disease characterized by a great diversity in its forms, localizations, and prognosis. Both the disease and the treatment can have a significant impact on quality of life in patients. Given the complexity of the disease and its rarity, the literature on patients' experience with the disease scarce. The purpose of this study is to investigate illness representations and subjective experience in participants affected with desmoid tumors. METHODS: Telephonic semi-directive interviews were used in French patients over 18 years, diagnosed with desmoid tumor. Data were analyzed through a general inductive method to identify emergent general themes in participants' discourse. RESULTS: Participants (8 women, 7 men) in this study were aged between 27 and 71. The analysis revealed eight major themes relative to representations of illness and treatment, live with the illness, the impact of illness on relationships with others, the illness and medical pathways, and the identity changes caused by the illness. The two most salient themes were illness and treatment representations and life with the illness. Those themes were chosen for this study. CONCLUSIONS: The results provide new insights on representation of and experience with desmoid tumors in patients. It brings arguments for the necessity of development wider systematic study to explore those variables in a larger sample during all the illness pathway. Indeed, this population meets particular issues appealing for the development of a specific psychosocial support.

Case report: Rapidly progressive desmoid tumor after surgery for esophagogastric junction cancer and slowly progressive primary desmoid tumor: a report of two cases and literature review.

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 intra-abdominal 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.

Real-word experience of pazopanib and sorafenib in patients with desmoid tumors: A CanSaRCC multi-center study.

BACKGROUND: Sorafenib and pazopanib, two tyrosine kinase inhibitors (TKI), are widely used in patients with progressive symptomatic desmoid tumors (DT). Limited real-word data is available on long-term outcomes of patients who progressed on, stopped, or continued TKIs. METHODS: Patients diagnosed with DTs and treated with sorafenib or pazopanib between 2011 and 2022 at 11 institutions were reviewed. Patient history, response to therapy and toxicity were recorded. Statistical analyses utilized Kaplan-Meier and log-rank tests. RESULTS: 142 patients with DT treated with sorafenib (n = 126, 88.7 %) or pazopanib (n = 16, 11.3 %) were analyzed. The median treatment duration was 10.8 months (range: 0.07- 73.9). The overall response rate and the disease control rate were 26.0 % and 95.1 %, respectively. The median tumor shrinkage was - 8.5 % (range -100.0 %- +72.5 %). Among responders, the median time to an objective response was 15.2 months (range: 1.1 to 33.1). The 1-year and 2-year progression-free survival rates were 82 % and 80 %. Dose reductions were necessary in 34 (23.9 %) patients. Grade 3 or higher adverse events were reported in 36 (25.4 %) patients. On the last follow-up, 55 (38.7 %) patients continued treatment. Treatment discontinuation (n = 85, 59.9 %) was mainly for toxicity (n = 35, 45.9 %) or radiological or clinical progression (n = 30, 35.3 %). For the entire cohort, 36 (25.4 %) patients required subsequent treatment. In the 32 responders, only 1 (3.1 %) patient required a subsequent treatment. In patients who discontinued TKI, 25 (44.6 %) with stable disease received subsequent treatment compared to 0 (0.0 %) of responders. CONCLUSION: This retrospective study represents the largest cohort of DT patients treated with sorafenib or pazopanib to date. Discontinuation of treatment in responders is safe. The optimal treatment duration in patients with stable disease remains to be defined.

Imaging-Based Deep Learning for Predicting Desmoid Tumor Progression.

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.

Paraspinal Desmoid Tumor in a Pediatric Patient with No Surgical History: A Case Report.

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 follow-up, 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.

Diagnosis and Management of Desmoid Fibromatosis of the Breast.

Desmoid fibromatosis of the breast (also known as desmoid tumor of the breast) is a rare entity infrequently encountered by oncologists and surgeons caring for patients with breast disease. The current body of literature is highly reliant on case series and extrapolations from other sites of desmoid tumor-related disease. Much remains unclear regarding the pathological origins, natural history, and response to treatment of this condition. Traditional treatment strategies have centered on surgical resection, which may result in significantly disfiguring cosmetic and functional outcomes, frequent need for re-operation, and associated morbidity. There are limited data to support the superiority of upfront surgical resection when compared to medical therapy or watchful waiting strategies. Current treatment guidelines for desmoid tumors do not focus on the breast as a site of disease and are purposefully ambiguous due to the paucity of evidence available. We aim to review the literature concerning desmoid fibromatosis of the breast and propose an algorithm for current evidence-based management of this rare disease in the context of our experience with this pathology at a high-volume quaternary referral center.

A 10-year-old male with chest wall Desmoid tumor - a rare tumor with unusual presentation.

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.

Distal Duodenal Stricture Secondary to Mesenteric Fibromatosis (Intra-Abdominal Desmoid Tumor) of the Jejunum.

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 ß-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.

Safety and efficacy of cryoablation of Soft-Tissue tumors.

OBJECTIVES: To assess the safety and efficacy of percutaneous cryoablation (CA) of soft-tissue tumors (desmoid tumors (DT), vascular malformations (VM), and abdominal wall endometriosis (AWE)). METHODS: This systematic review of studies published before January 2024 encompassed a detailed analysis of CA techniques and technical aspects for the treatment of soft-tissue tumors. Data concerning CA efficacy, complication rates, and other relevant metrics was extracted and included for analysis. RESULTS: The analysis included 27 studies totaling 554 CA procedures. For DT (13 studies, 393 sessions), CA showed an average pain reduction of 79 ± 17% (range: 57-100) and a lesion volume decrease of 71.5 ± 9.8% (range: 44-97). VM (4 studies, 58 sessions) had a 100% technical success rate and an average pain reduction of 72 ± 25% (range: 63-85). The average pain reduction for AWE (6 studies, 103 sessions) was 82 ± 13% (range: 62-100). Overall, the complication rate for CA was low, with minor adverse events (AE) in about 20% of patients and major events in less than 5% of patients. CONCLUSION: Showing substantial efficacy in pain reduction and lesion volume decrease, as well as low incidence of severe AE, CA presents as a highly effective and safe alternative for the treatment of soft-tissue tumors. ADVANCES IN KNOWLEDGE: CA is effective and safe in treating soft-tissue tumors, particularly DT, VM, and AWE.