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Introduction: Desmoid tumors (DTs) are rare, fibroblastic cell proliferations that can exhibit locally aggressive behavior but lack metastatic potential. Initial management has traditionally involved upfront resection; however, contemporary guidelines and expert panels have increasingly advocated for prioritizing active surveillance strategies., Methods: A single-institution, retrospective chart review identified all patients diagnosed with a primary DT at any site from 2007 to 2020. The primary outcome was the initial management strategy over time. Secondary outcomes included treatment-free survival (TFS) and time to treatment (TTT) for those undergoing active surveillance, as well as recurrence-free survival (RFS) and time to recurrence for those undergoing resection., Results: Overall, 103 patients were included, with 68% female and a median follow-up of 44 months [24-74]. The most common tumor locations included the abdominal wall (27%), intra-abdominal/mesenteric (25%), chest wall (19%), and extremity (10%). Initial management included resection (60%), systemic therapy (20%), active surveillance (18%), and cryoablation (2%). Rates of surgical resection significantly decreased (p < 0.001) over time, from 69.6% prior to 2018 to 29.2% after 2018. For those treated with upfront resection, 5-year RFS was 41.2%, and for patients undergoing initial active surveillance, TFS was 66.7% at 2 years, with a median TTT of 4 months [4-10]., Conclusions: This single-institution cohort at a tertiary medical center spanning over a decade demonstrates the transition to active surveillance for initial management of DTs, and highlights salient metrics in the era of surveillance. This trend mirrors recommended treatment strategies by expert panels and consensus guidelines., (© 2024. Society of Surgical Oncology.)

Background & Aims: Desmoid tumors (DT) are an important cause of morbidity and mortality in patients with familial adenomatous polyposis (FAP). DT development might be related to the type and approach of colectomy. We aimed to compare DT development after colectomy with ileorectal anastomosis (IRA) and proctocolectomy with ileal pouch-anal anastomosis (IPAA)., Methods: We performed an international historical cohort study in patients with FAP who underwent IRA or IPAA between 1961 and 2020. The primary outcome was the incidence of abdominal DT (either mesenteric, retroperitoneal, or abdominal wall). Patients with a DT diagnosis before or at colectomy were excluded. Time to DT was considered censored at an eventual secondary proctectomy after IRA. We used multivariable Cox regression modelling to adjust for potential confounders., Results: We analyzed data from 852 patients: 514 after IRA and 338 after IPAA (median follow-up, 21 and 16 years, respectively). DTs were diagnosed in 64 IRA patients (12%) and 66 IPAA patients (20%). The cumulative DT incidence at 5 and 10 years was 7.5% and 9.3% after open IRA and 4.7% and 10.9% after laparoscopic IRA. These estimates were 13.6% and 15.4% after open IPAA and 8.4% and 10.0% after laparoscopic IPAA. The postoperative risk was significantly higher after IPAA (P < .01) in multivariable analysis, whereas approach did not significantly influence the risk., Conclusions: The risk of developing an abdominal DT was found to be significantly higher after IPAA than after IRA. Postoperative DT risk should be taken into account when choosing between IRA and IPAA in FAP., (Copyright © 2024 The Author(s). Published by Elsevier Inc. All rights reserved.)

A desmoid tumour, also known as aggressive fibrous tumour or desmoid fibromatosis, is a rare, benign tumour originating from connective tissue cells. Desmoid tumours account for approximately 0.03+% of all neoplasms and less than 3+% of all soft tissue tumours. The estimated incidence in the general population is 2 to 4 cases per million people per year [1]. Desmoid tumours are characterised by aggressive growth but typically do not metastasize. They often occur in young adults and preferably affect specific body regions such as the abdomen, shoulder, chest, or extremities. The exact cause of the condition is not fully understood, but genetic changes and hormonal factors may play a role. Symptoms of a desmoid tumour depend on its location and size, with pain, swelling, or restricted movement commonly occurring. A diagnosis is typically made through a tissue sample (biopsy) and imaging techniques such as MRI or CT [2]. To our knowledge, this is the first documented case of recurrence of a desmoid tumour in the scar at the donor site of a latissimus dorsi flap previously used for the reconstruction of desmoid resection in the lower leg., Competing Interests: Die Autorinnen/Autoren geben an, dass kein Interessenkonflikt besteht., (Thieme. All rights reserved.)

Rationale: Desmoid-type fibromatosis (DTF), also known as aggressive fibromatosis, is a rare neoplasm originating from the fascial or musculoaponeurotic tissues. While benign and characterized by slow growth, it exhibits local aggressiveness and lacks specific clinical characteristics. However, in a considerable percentage of patients, it could be asymptomatic and discovered by accident during routine clinical examinations. Only a few cases of DTF arising from the psoas major muscle have been reported in the medical literature., Patient Concerns: A 24-year-old male, asymptomatic and without significant personal or family medical history, was diagnosed with grade 2 hydronephrosis by abdominal ultrasonography during a routine physical examination. This diagnosis was made 15 days after undergoing uncomplicated open-heart surgery to repair an atrial septal defect., Diagnosis: Intravenous pyelogram revealed hydronephrosis with dilation of the pelvicalyceal system. Ureteroscopy ruled out any intrinsic lesions of the ureter. Contrast-enhanced computed tomography identified a 3.5 × 2 × 5.2 cm mass in the retroperitoneum, closely associated with the psoas muscle and enveloping the ureter adjacent to the iliac artery. Postoperative pathological analysis confirmed a definitive diagnosis of sporadic DTF., Interventions: The patient underwent exploratory abdominal surgery, during which the tumor was resected without any intraoperative complications., Results: After close monitoring over a 5-year follow-up period, which included periodic physical examinations, magnetic resonance imaging, and ultrasonography, no local recurrence was detected., Lessons: Achieving an accurate preoperative diagnosis presents a challenge in cases involving retroperitoneal tumors originating from the psoas major muscle and encasing the ureter. However, the insertion of a double J stent is deemed a crucial step in the surgical process, facilitating the dissection and isolation of the ureter from the tumor while preserving kidney function., Competing Interests: The authors have no conflicts of interest to disclose., (Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.)

Rationale: Desmoid tumor (DT) is a rare soft tissue tumor that can occur anywhere in the body. Abdominal wall DT presents unique clinical challenges due to its distinctive manifestations, treatment modalities, and the lack of biomarkers for diagnosis and recurrence prediction, making clinical decisions exceedingly complex., Patient Concerns: A 32-year-old female who underwent radical resection combined with patch reinforcement for rectus abdominis DT, successfully alleviating abdominal discomfort, with no recurrence during the 6-month follow-up after surgery., Diagnoses: Based on the imaging studies and medical history, the patient underwent radical surgical resection. Histopathology reveals that the tumor cells predominantly composed of proliferative fibroblasts with local collagen deposition. The lesional cells show positive staining for β-catenin, indicating a diagnosis of DT., Interventions: The patient underwent radical surgical resection with patch reinforcement to repair the abdominal wall defect. Pathology confirmed negative margins, achieving an R0 resection, and genetic testing identified a T41A mutation in CTNNB1. Consequently, no additional adjuvant therapy was administered postoperatively., Outcomes: The patient was discharged with the incision healing well after 3 days postoperation. Upon reexamination 6 months later, no recurrence or adverse complications were observed., Lessons: Abdominal wall DT treatment requires personalized plans from multidisciplinary team discussions. Genetic testing plays a crucial role in identifying novel biomarkers for abdominal wall DT. We have once again demonstrated the significant clinical significance of CTNNB1 mutations in the diagnosis and progression of abdominal wall DT. Additionally, genes such as CCND1, CYP3A4, SLIT1, RRM1, STIM1, ESR2, UGT1A1, among others, may also be closely associated with the progression of abdominal wall DT. Future research should delve deeper into and systematically evaluate the precise impact of these genetic mutations on treatment selection and prognosis for abdominal wall DT, in order to better guide patient management and treatment decisions., Competing Interests: The authors have no funding and conflicts of interest to disclose., (Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.)

Rationale: Aggressive fibromatosis (AF) is a fibroblastic/myofibroblastic tumor known for its locally aggressive properties. Intra-abdominal AF primarily occurs in the small intestine mesentery, ileocolic mesocolon, omentum, retroperitoneum, and pelvis, and rarely originates from the intestinal wall. Here, we report a rare case of small bowel obstruction caused by duodenum-derived AF with β-catenin (CTNNB1) T41A mutation., Patient Concerns: A 35-year-old male had a 4-month history of abdominal pain, nausea, and vomiting, which gradually worsened over time., Diagnoses: Based on the results of CT examination, histopathology and Sanger sequencing, the patient was diagnosed with small bowel obstruction caused by duodenum-derived AF., Interventions: Due to the extensive adhesion between the tumor and surrounding tissue, it is extremely challenging to completely remove the tumor through surgical resection with negative margins in this case. In order not to damage the function of surrounding vital organs, gastrojejunostomy was performed to relieve the symptoms of small bowel obstruction., Outcomes: The patient experienced a successful recovery. It is important to note that this patient is still at risk of local recurrence and requires regular follow-up., Lessons: The best treatment should be taken based on the individual patient to relieve symptoms and improve quality of life. Moreover, histopathology plays a crucial role in diagnosing and differentiating duodenum-derived AF. The detection of mutations in exon 3 of the CTNNB1 has become strong evidence for diagnosing duodenum-derived AF., Competing Interests: The authors have no funding and conflicts of interest to disclose., (Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.)

Objective: To investigate the clinicopathological and genetic characteristics of neuromuscular choristoma-associated desmoid type fibromatosis (NMC-DF). Methods: The clinical morphological and immunohistochemical features of 7 NMC-DF cases diagnosed from January 2013 to January 2023 in Beijing Jishuitan Hospital were retrospectively analyzed. A series of neuromuscular choristoma and neuromuscular choristoma-associated desmoid type fibromatosis were evaluated for CTNNB1 mutations, and hotspot mutations for CTNNB1 were tested in 4 NMC-DF cases using Sanger sequencing. Results: The tumors were collected from 3 females and 4 males, aged 1 to 22 years (mean 7.1 years), involving the sciatic nerve ( n =4), brachial plexus ( n =2) or multiple nerves ( n =1). The course of the disease spanned from 3 months to 10 years. Two cases were recurrent tumors. All the 7 NMC cases showed endoneurial intercalation of mature skeletal muscle fibers among the peripheral nerve fascicles, and the histologic features of the NMC-DF were strikingly similar to the conventional desmoid-type fibromatosis. By immunohistochemistry, all NMC and NMC-DF cases showed aberrant nuclear staining of β-catenin (7/7), the muscle cells in NMC were intensely immunoreactive for desmin, and the admixed nerve fibers were highlighted by NF and S-100 (7/7). Four NMC and NMC-DF had CTNNB1 mutations, 3 c.121A>G (p.T41A) and 1 c.134C>T (p.S45F). Follow-up of the 7 cases, ranging from 22 to 78 months, showed tumor recurrence in 2 patients at 3 and 8 months respectively after the first surgical resection, of which 1 patient underwent above-knee amputation. No recurrence occurred in other cases with tumor excision and neurological reconstruction surgery. There was no metastasis occurred in the 7 cases. Conclusions: NMC is a rare congenital lesion with differentiated mature skeletal muscle tissue found in peripheral nerve fascicles, and approximately 80% of patients with NMC develop a soft tissue fibromatosis. CTNNB1 mutation in the Wnt signaling pathway may be involved in the pathogenesis of NMC and NMC-DF, and S45F mutations seems to have a higher risk of disease progression.

Abstract: Extra-abdominal desmoid fibromatosis arising from the oesophagus and the contemporaneous traction diverticula due to an oesophageal tumour is extremely rare. We present this complex situation in a 2-year-old girl which posed a surgical challenge requiring simultaneous management of multiple pathologies. Surgery addressed both the entities and the presence of the diverticulum facilitated achieving negative surgical margins., (Copyright © 2024 Copyright: © 2024 African Journal of Paediatric Surgery.)

Desmoid type fibromatosis (DTF) is a rare intermediate soft tissue tumor. Here we report a case of DTF located in the tail of pancreas. A 39-year-old female presented epigastric pain of 1 week duration. An abdominal magnetic resonance imaging revealed a 3.4-cm irregular contour solid mass in the tail of the pancreas that was interpreted by radiology as suspicious for a benign pancreatic tumor. Endoscopic ultrasound (EUS) showed an irregularly shaped hypoechoic, heterogeneous mass within the tail of pancreas invading the adjacent gastric wall, suggesting a diagnosis of malignant pancreatic tumor. Subsequently, surgery consisted of a distal pancreatectomy, splenectomy and combined partial resection of the stomach, was performed. The immunohistochemistry and histopathological features were consistent with a diagnosis of pancreatic desmoid type fibromatosis. EUS is very useful for visually defining the location and character of pancreatic DTF and to determine whether the major vessels and the adjacent organs are infiltrated.

Background: We have recently described circumferential nerve involvement of neuromuscular choristoma associated with desmoid-type fibromatosis (NMC-DTF) in cases involving the sciatic nerve, supporting a nerve-derived mechanism for the DTF. We wondered whether a similar growth pattern occurs in cases involving the brachial plexus (BP)., Methods: We reviewed all available magnetic resonance (MR) imaging in patients diagnosed at our institution with NMC or NMC-DTF of the BP. We also performed a literature search of patients with NMC or NMC-DTF of the BP., Results: In our clinical records, four patients with NMC of the BP were identified, and three developed NMC-DTF. All three patients had MR imaging evidence of circumferential encasement of the BP. In the literature, we identified 15 cases of NMC of the BP, of which 12 had identified NMC-DTF. Four published cases included MR images, and only two were of sufficient quality for review. The single provided image in both cases demonstrated a similar pattern of circumferential encasement of the BP by the NMC-DTF. One additional case report was published without MR images but described circumferential involvement in the surgical findings. One unpublished case of NMC-DTF of the BP from an international radiology meeting also had this circumferential pattern pattern on MRI., Conclusions: The MRI findings of circumferential nerve involvement in patients with NMC-DTF of the BP are similar to our previously reported data in patients with NMC-DTF of the sciatic nerve, providing further imaging-based support of a nerve-driven mechanism. Clinical implications are presented based on the proposed pathogenetic mechanism., (Copyright © 2024 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.)

A man in his 50s who presented an abnormal shadow on chest X-ray was diagnosed with posterior mediastinal tumor that had grown compared to the previous chest X-ray. Computed tomography showed a 5.7×3.9 cm solid mass with a smooth surface in the posterior mediastinum. A neurogenic tumor was suspected, and the mediastinal tumor was resected through thoracotomy because it was strongly adherent. The postoperative course was good, and he was discharged from the hospital on postoperative day 3. Contrary to preoperative expectations, the tumor was pathologically diagnosed as a desmoid tumor. After 6 months postoperatively without any complications, no recurrence was observed.

Desmoid-type fibromatosis is a relatively rare disease, often associated with familial adenomatous polyposis and a history of abdominal surgery. A 43-year-old male patient presented with abdominal pain and contrast-enhanced CT showed a mass in the lower abdomen. The mass was a 4×4×3 cm white, dense tumor with a wreath-like arrangement of eosinophilic spindle-shaped cells. Immunostaining showed KIT(-), CD34(-), desmin(-), β-catenin(+), SMA(few+), and the diagnosis was desmoid-type fibrosis. Six months after surgery, there was no apparent recurrence.

Introduction: Upper extremity (UE) desmoid tumors are locally aggressive neoplasms with high recurrence rates. Our study sought to analyze the demographics and treatment strategies of UE desmoid tumors and identify risk factors for recurrence., Materials and Methods: A retrospective review of 52 patients with histologically confirmed UE desmoid tumors treated at our institution between 1990 and 2015 was conducted. Survival was assessed using the Kaplan-Meier method and the Cox proportional hazards model was used for risk factor analysis., Results: For the entire cohort, median age was 40 (29-47) years, 75% were female, and 48% had local recurrence. The median tumor size was 45 (15-111) cm 3 on imaging. Twenty-two patients had a previous resection. The most common treatments were surgery alone (50%) and surgery with adjuvant radiotherapy (21%). Tumor size ≥5 cm and tumor volume ≥40 cm 3 on imaging were associated with increased recurrence (p = 0.006 and p = 0.005, respectively). Age and sex were not associated with local recurrence. Patients with a tumor size ≥5 cm were 2.6 times more likely to present with recurrence. At the 10-year mark, a lower local recurrence-free survival was seen in patients with tumors ≥5 cm (72.2% vs. 36.3%, p = 0.042) or ≥40 cm 3 (67.2% vs. 32.7%, p = 0.034)., Conclusion: In our study, only tumor dimensions appeared to modify recurrence risk., (© 2023 Wiley Periodicals LLC.)

Background: Clinical experience teaches that intraperitoneal adhesions are more severe in patients with familial adenomatous polyposis than in patients without it. This impression may come from the common association of familial adenomatous polyposis with desmoid disease., Objectives: This study aimed to determine whether patients with familial adenomatous polyposis and desmoid disease develop more severe adhesions than those without desmoid disease., Design: Prospectively collected data study., Settings: Hereditary colorectal cancer center in a tertiary referral hospital., Patients: Patients undergoing first reoperative intra-abdominal surgery for familial adenomatous polyposis; controls were those having their initial abdominal surgery., Interventions: Surgery and adhesiolysis., Main Outcome Measures: Presence and type of desmoid disease; presence and severity of nondesmoid intraperitoneal adhesions. Where patients had multiple operations, only the first reoperative surgery was chosen. Desmoid disease was noted as reaction (sheet) or mass. Adhesions were graded as none, mild (<10 min for mobilization), average (10-30 min), and severe (>30 min or significant bowel damage). Patients having their first abdominal surgery for familial adenomatous polyposis were used as a control group., Results: A total of 211 patients had no prior surgery; 5% had desmoids and 1% had adhesions. One hundred thirty-seven patients underwent reoperative surgery: 39% had desmoid disease ( p < 0.05 vs no prior surgery), the highest rate being in patients after IPAA (57%), and 45% had severe adhesions ( p < 0.01 vs no prior surgery), worst after Koch pouch (89%), and total proctocolectomy with ileostomy (82%). Thirty-six percent of patients without desmoid disease had severe adhesions. Desmoid reaction was associated with severe adhesions in 47% of cases and desmoid tumors in 66% of cases., Limitations: Possible limitations include the potential overlap between desmoid adhesions and nondesmoid adhesions and the potential for inaccuracy in defining the time of adhesiolyses., Conclusions: Familial adenomatous polyposis is associated with severe postoperative adhesions after reoperative abdominal surgery, especially in patients who develop desmoid disease. See Video Abstract ., Correlacin Entre La Gravedad De Las Adherencias Y La Enfermedad Desmoidea En Pacientes Con Poliposis Adenomatosa Familiar Estudio Prospectivo De Cohortes: ANTECEDENTES:La experiencia clínica demuestra que las adherencias intraperitoneales son más graves en pacientes con poliposis adenomatosa familiar que en pacientes sin enfermedad desmoidea. Esta impresión puede provenir de la asociación común de poliposis adenomatosa familiar con enfermedad desmoidea.OBJETIVOS:Ver si los pacientes con poliposis adenomatosa familiar y enfermedad desmoidea desarrollan adherencias más graves que aquellos sin enfermedad desmoidea.DISEÑO:Estudio de datos recolectados prospectivamente.AJUSTES:Centro de cáncer colorrectal hereditario en un hospital de referencia terciario.PACIENTES:Pacientes sometidos a una primera cirugía intraabdominal de caracter reoperatorio por poliposis adenomatosa familiar: los controles fueron los que se sometieron a su cirugía abdominal inicial.INTERVENCIONES:Cirugía y adhesiolisis.PRINCIPALES MEDIDAS DE RESULTADO:Presencia y tipo de enfermedad desmoidea; presencia y severidad de adherencias intraperitoneales no desmoideas. Cuando los pacientes tenían múltiples operaciones, solo se eligió la primera cirugía reoperatoria. La enfermedad desmoidea se anotó como reacción (hoja filamentosa) o masa. Las adherencias se calificaron como ninguna, leve (<10 minutos para la movilización), promedio (10 a 30 minutos) y severa (>30 minutos o daño intestinal significativo). Los pacientes sometidos a una primera cirugía abdominal por poliposis adenomatosa familiar se utilizaron como grupo de control.RESULTADOS:211 pacientes no tenían cirugía previa: 5% desmoideos y 1% adherencias. 137 pacientes se sometieron a cirugía reoperatoria: 39% tenía enfermedad desmoidea ( p < 0,05 frente aquellos sin cirugía previa), la tasa más alta se presentó en aquellos pacientes después de una anastomosis ileoanal con reservorio (57%) donde el 45% tenía adherencias graves ( p < 0,01 frente aquellos sin cirugía previa), peores resultados se observaron después de la confección de un reservorio de Koch (89%) y luego de proctocolectomía total con ileostomía (82%). El 36% de los pacientes sin enfermedad desmoidea tenían adherencias graves. La reacción desmoidea se asoció con adherencias graves en el 47% de los casos, y los tumores desmoides se asociaron con adherencias graves en el 66% de los casos.LIMITACIONES:Superposición potencial entre adherencias desmoideas y adherencias no desmoideas. Posible inexactitud en la definición del tiempo de adhesiolisis.CONCLUSIONES:La poliposis adenomatosa familiar se asocia con adherencias postoperatorias graves después de una cirugía abdominal reoperatoria, especialmente en pacientes que desarrollan enfermedad desmoidea. (Traducción-Dr. Xavier Delgadillo )., (Copyright © The ASCRS 2023.)

Purpose: Although the treatment of abdominal wall desmoid-type fibromatosis (DF) has evolved over the past decades, surgical treatment remains an important approach. Previously, surgeries for abdominal DF were mostly performed by laparotomy, which involves massive dissection and significant trauma. Here, we report our single-center experience of the laparoscopic management of abdominal wall DF in young female patients., Methods: The clinical data of nine patients diagnosed with abdominal wall DF during January 2020-April 2022 at the Qilu Hospital of Shandong University were retrospectively analyzed. All patients underwent laparoscopic resection of abdominal wall DF and immediate abdominal wall reconstruction (AWR) with mesh augmentation via the intraperitoneal onlay mesh (IPOM) technique., Results: Laparoscopic DF resection and AWR were successfully performed in all patients. The mean operation time was 175.56 ± 46.20 min. The width of abdominal wall defect was 8.61 ± 3.30 cm. Full- and partial-thickness myofascial closure and reapproximation were performed in five, two, and two patients, respectively. The average mesh size was 253.33 ± 71.01 cm 2 . The total and postoperative lengths of hospital stay were 11.00 ± 3.46 and 4.89 ± 2.03 days, respectively. Tumor recurred in one patient after 20 months of the resection. Nonetheless, death, herniation, or bulging were not observed in any patient during a mean follow-up of 16.11 ± 8.43 months., Conclusion: Laparoscopic resection of abdominal wall DF and immediate AWR with IPOM mesh reinforcement is safe and reliable for young female patients. Management of such patients should be decided according to the biological behavior, size, and location of tumors., (© 2023. The Author(s), under exclusive licence to Springer-Verlag France SAS, part of Springer Nature.)

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., (© 2023. The Author(s).)

Desmoid tumors are rare soft-tissue tumors that exhibit locoregional aggressiveness and a high local recurrence rate following initial resection. No fixed recommendations have been established with regard to the timing and method of treatment for desmoid tumors that enlarge during pregnancy. Desmoid tumors tend to enlarge during pregnancy, and most do not regress spontaneously postpartum. Thus, surgery may be required even during pregnancy. We report a case of an abdominal wall desmoid tumor that grew to 90 mm during pregnancy and was resected at 17 weeks of gestation. Marginal resection was performed, and the surgical margin was microscopically positive. The postoperative course and the pregnancy were uneventful, and no recurrence was observed at the 15-month follow-up visit.

Desmoid tumours of the brachial plexus are rare locally infiltrative aggressive, monoclonal, fibroblastic proliferations characterized by a variable and often unpredictable clinical course. Only 21 patients have been reported in the literature. We add another one, and report function-preserving surgery in a 34-year-old man with a desmoid tumour of the brachial plexus. The patient presented with paraesthesia and gradually progressive distal muscle weakness in the left upper limb. Electrodiagnostic studies revealed preganglionic changes in segments C8-D1. Contrast-enhanced magnetic resonance imaging showed an enhancing mass with irregular margins in the left paravertebral region encasing the subclavian artery, pre- and post-ganglionic C6-D1 nerve roots and trunks of the brachial plexus. Using an anterior transclavicular approach the tumour was decompressed, which led to a major improvement in paraesthesia and partial motor recovery. He was doing well at 6 months of follow-up. Histopathological examination showed findings consistent with desmoid tumour. A tailored multidisciplinary surgical approach, with the aim to preserve function over radiological clearance, is an acceptable treatment strategy in preserving patient's quality of life for such infiltrating desmoid tumours encasing the brachial plexus. Following surgery, observation and close radiological surveillance offer an optimal strategy without jeopardizing the quality of life.

Sinonasal myxoma (SNM) is a rare, benign mesenchymal neoplasm with distinct clinicopathologic features and aberrant nuclear localization of β-catenin by immunohistochemistry. The molecular underpinnings have been linked to that of a "myxoid variant" of desmoid fibromatosis. Herein, we describe a series of 8 cases of SNM and propose clinical and biologic differences compared with desmoid fibromatosis. Our patient cohort is comprised of 5 males and 3 females (age range: 10 mo to 12 y), 6 of whom are aged less than or equal to 24 months. All presented with facial swelling, reflecting lesions involving the maxillary bone, and all underwent resection. All tumors were variably cellular and comprised of bland spindled to stellate cells in a profusely myxoid background with diffuse nuclear β-catenin expression. All cases of SNM were analyzed by next-generation sequencing using the Oncopanel assay. Three cases failed sequencing, 2 of 5 successful cases exhibited exon 3 CTNNB1 alterations involving the ubiquitin recognition motif, and 3 had adenomatous polyposis coli ( APC ) deletions. One patient had APC germline testing which was negative. No germline testing was available for the remaining 7 patients. Follow-up data over a range of 1 month to 23 years was available for 7 of the 8 SNMs. One case patient had local recurrence, and all were alive without evidence of disease. This is in contrast to the high recurrence rate typically seen in desmoid fibromatosis, particularly after resection. Our findings expand the spectrum of tumors with underlying WNT/β-catenin pathway and highlight the histologic, clinical, and genetic differences of SNM compared with desmoid fibromatosis. APC deletion raises the possibility of underlying germline alteration and familial adenomatous polyposis., Competing Interests: Conflicts of Interest and Source of Funding: The authors have disclosed that they have no significant relationships with, or financial interest in, any commercial companies pertaining to this article., (Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.)

BACKGROUND Desmoid tumors are a fibroblastic proliferation of soft tissues, with an extreme inclination for local dissemination and recurrence. Surgical excision is the usual treatment choice, with data regarding pharmaceutical treatment being scarce. CASE REPORT A 74-year-old female patient was admitted to "Laikon" General Hospital of Athens, Greece presenting with acute kidney injury secondary to diarrhea. The ultrasound, CT, and abdominal MRI performed showed a 12×6×10 cm tumorous liver lesion. Biopsy of the lesion revealed loosely organized, mesenchymal tissue with spindle cells, and myxoid stroma. Immunochemistry was positive for SMA and b-catenin. Right hemicolectomy was performed with tumor-free surgical margins (R0 resection) and tamoxifen was initiated. Six months after the last MRI (3 months after the use of tamoxifen), a follow-up MRI was performed. The tumor had increased to 14.2×11×12.3 cm, and at the next follow-up it had grown to 20.3×19 cm maximal dimensions; no new metastases were found. The patient received sorafenib and pazopanib. Our patient had PFS with sorafenib for more than 2 years and remained in a good performance status (ECOG 1). For Pazopanid, the median PFS for this treatment option was 6.5 months. CONCLUSIONS The results were good and show a promising method for the treatment of this rare but severe malignancy.

The patient was a 27-year-old man. He was referred to our hospital because he was aware of a mass in his abdomen. An abdominal ultrasound showed a 70-mm mass lesion. Enhanced computed tomography showed a 70-mm mass with well- defined margins and heterogeneous internal enhancement near the proximal jejunum. The patient was diagnosed with a suspected primary submucosal tumor of the duodenum or small intestine, and surgery was planned to diagnose and treat the tumor. The tumor was located in the upper jejunal mesentery, and tumor resection and partial small bowel resection were performed. Histopathological examination revealed proliferation of spindle-shaped cells without karyomitosis, and mixed collagen fibers in the tissue. Immunohistochemistry showed β-catenin(+), SMA(+), AE1/AE3(-), KIT(-), CD34(-), and S-100(-). Based on these findings, we diagnosed primary desmoid fibromatosis of the small intestinal mesentery. In this report, we describe a case of primary desmoid fibromatosis of the small intestinal mesentery with a review of the literature.

Background: The initial approach to the treatment of desmoid tumors has changed from surgical resection to watchful waiting. However, surgery is still sometimes considered for some patients, and it is likely that a few patients would benefit from tumor removal if the likelihood of local recurrence could be predicted. However, to our knowledge, there is no tool that can provide guidance on this for clinicians at the point of care., Question/purpose: We sought to explore whether a combined molecular and clinical prognostic model for relapse in patients with desmoid tumors treated with surgery would allow us to identify patients who might do well with surgical excision., Methods: This was a retrospective, single-center study of 107 patients with desmoid tumors who were surgically treated between January 1980 and December 2015, with a median follow-up of 106 months (range 7 to 337 months). We correlated clinical variables (age, tumor size, and localization) and CTNNB1 gene mutations with recurrence-free survival. Recurrence-free survival was estimated using a Kaplan-Meier curve. Univariate and multivariable analyses of time to local recurrence were performed using Cox regression models. A final nomogram model was constructed according to the final fitted Cox model. The predictive performance of the model was evaluated using measures of calibration and discrimination: calibration plot and the Harrell C-statistic, also known as the concordance index, in which values near 0.5 represent a random prediction and values near 1 represent the best model predictions., Results: The multivariable analysis showed that S45F mutations (hazard ratio 5.25 [95% confidence interval 2.27 to 12.15]; p < 0.001) and tumor in the extremities (HR 3.15 [95% CI 1.35 to 7.33]; p = 0.008) were associated with a higher risk of local recurrence. Based on these risk factors, we created a model; we observed that patients considered to be at high risk of local recurrence as defined by having one or two factors associated with recurrence (extremity tumors and S45F mutation) had an HR of 8.4 compared with patients who had no such factors (95% CI 2.84 to 24.6; p < 0.001). From these data and based on the multivariable Cox models, we also developed a nomogram to estimate the individual risk of relapse after surgical resection. The model had a concordance index of 0.75, or moderate discrimination., Conclusion: CTNNB1 S45F mutations combined with other clinical variables are a potential prognostic biomarker associated with the risk of relapse in patients with desmoid tumors. The developed nomogram is simple to use and, if validated, could be incorporated into clinical practice to identify patients at high risk of relapse among patients opting for surgical excision and thus help clinicians and patients in decision-making. A large multicenter study is necessary to validate our model and explore its applicability., Level of Evidence: Level III, therapeutic study., Competing Interests: Each author certifies that there are no funding or commercial associations (consultancies, stock ownership, equity interest, patent/licensing arrangements, etc.) that might pose a conflict of interest in connection with the submitted article related to the author or any immediate family members. All ICMJE Conflict of Interest Forms for authors and Clinical Orthopaedics and Related Research® editors and board members are on file with the publication and can be viewed on request., (Copyright © 2023 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the Association of Bone and Joint Surgeons.)

Desmoid-type fibromatosis (DF) is a rare monoclonal, fibroblastic proliferation characterized by an unpredictable and variable clinical course. We present the case of a 56-year-old woman who underwent total thyroidectomy for papillary thyroid carcinoma in 2012 and who developed a cervical mass at the left laterocervical level during follow-up, raising the diagnosis of tumor recurrence. Computed tomography of the neck showed solid formations with heterogeneous contrast uptake in the right lateral region of the neck. At the level of the thoracic operculum, a second 26-mm formation was observed that medially contacted the left lateral wall of the trachea. Lateral lymphadenectomy was performed, which was incomplete. Histology showed findings consistent with desmoid-type fibromatosis. DF are slowly proliferating, non-metastatic tumors with a highly invasive capacity that are usually present in familial adenomatous polyposis (FAP)-Gardner syndrome. Our case had a history of massive colonic polyposis and first-degree relatives of colorectal cancer., (Universidad Nacional de Córdoba)

Purpose: To determine the risk factors for local of adult patients treated for desmoid tumors by cryoablation., Materials and Methods: Eighty-four patients treated for nonabdominopelvic desmoid tumors by cryoablation from July 2012 to July 2020 were included in a retrospective study. The population was composed of 64 women (76.19%) and 20 men (23.81%), aged from 16 to 75 years (median, 35 years ± 14.25). Each patient underwent preprocedural gadolinium-enhanced magnetic resonance imaging and was followed up to 36 months with the same technique. Clinical features, such as tumor size and previous treatment, epidemiological features, and the technical parameters of cryoablation, were studied., Results: Local relapse was found in 19 (22.62%) of 84 patients. The 12-, 24-, and 36-month progression-free survival rates were 89% (95% confidence interval [CI], 79-94), 74% (95% CI, 60-83), and 68% (95% CI, 53-79), respectively. In univariate analysis, significant prognostic factors associated with local recurrence were non-abdominal wall location (P = .042), debulking strategy (P = .0105), risk of visceral injury (P = .034) or peripheral nerve injury during cryoablation (P = .033), previous radiation therapy (P = .043), and treatment before 2016 (P = .008). In multivariate analysis, abdominal wall tumors displayed the best outcome, whereas the neck and trunk showed a high rate of recurrence (hazard ratio, 7.307 [95% CI, 1.396-38.261])., Conclusions: The local recurrence of desmoid tumors after cryoablation depends on a number of prognostic factors, in particular, a non-abdominal wall location of the tumor and previous local treatment such as surgery or radiation therapy., (Copyright © 2023 SIR. Published by Elsevier Inc. All rights reserved.)

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., (© 2022. The Author(s).)

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

Desmoid tumours are a rare fibroblastic proliferation of monoclonal origin, arising in deep soft-tissues. Histologically, they are characterized by locally aggressive behaviour and an inability to metastasize, and clinically by a heterogeneous and unpredictable course. Desmoid tumours can occur in any anatomical site, but commonly arise in the limbs. Despite their benign nature, they can be extremely disabling and sometimes life-threatening, causing severe pain and functional limitations. Their surgical management is complex and challenging, due to uncertainties surrounding the biological and clinical behaviour, rarity, and limited available literature. Resection has been the first-line approach for patients with a desmoid tumour but, during the last few decades, a shift towards a more conservative approach has occurred, with an initial 'wait and see' policy. Many medical and regional forms of treatment are also available for the management of this condition, and others have recently emerged with promising results. However, many areas of controversy remain, and further studies and global collaboration are needed to obtain prospective and randomized data, in order to develop an appropriate shared stepwise approach., Competing Interests: None declared., (© 2023 Authors et al.)

Nine cases of mesenteric desmoid-type fibromatosis were diagnosed and treated in Taizhou Hospital, Wenzhou Medical University between January 2010 and May 2022, including 2 females and 7 males, aged 16 to 59 years. The lesions were in the mesentery of small intestine with 7 cases, ileocecal junction with 1 cases and transverse colon with 1 case. The tumors had an unclear boundary and no envelope, the section was solid, gray and tough. The mean maximum diameter was (10.7±8.5) cm (range 3.5-33.0 cm). Microscopically, fusiform fibroblasts and myofibroblasts were parallel, bunched or staggered, buried in a large amount of extracellular collagen. The cell morphology was relatively consistent, without obvious atypia, and mitosis was rare. Immunohistochemistry showed that the tumor cells were positive for vimentin (9/9), β-catenin (9/9), while smooth muscle actin (5/9) stains were focally positive. Ki-67 proliferation index was 1%-10%. Cytokeratin Pan, S-100, STAT6, CD117, DOG1, CD34, desmin and anaplastic lymphoma kinase stains were negative. Genetic analysis showed that there were 7 cases of c.121G>A(p.Thr41Ala) mutation of CTNNB1 gene, 1 case of c.121G>A(p.Thr41Ala) and 1 case of c.134C>T(p.Ser45Phe) double mutation, and 1 case of wild type. Tumors were surgically resected in all 9 cases. Eight cases had no recurrence or metastasis, 1 case had recurrence 6 months later, and no recurrence or metastasis after additional surgical resection.

Competing Interests: The authors report no conflicts of interest.

Background: Desmoid tumours (aggressive fibromatosis) are rare, locally invasive, benign tumours. The following case represented a diagnostic challenge, because of the uncommon nature of the lesion., Case Report: A 26-year-old woman, who had previously undergone middle-ear surgery for cholesteatoma, presented with a painful swelling involving the post-auricular area and the conchal bowl. Initially, it was believed to be an infective process related to the surgery or an unusual cholesteatoma recurrence. Following investigations, which involved imaging and histology, the swelling was diagnosed as a desmoid tumour, and the patient received chemotherapy., Conclusion: Two incidences of paediatric desmoid tumours affecting the ear have been described in the literature, but there is no previous report of a desmoid tumour related to ear surgery. Desmoid tumours have, however, been reported following trauma, including surgery.

Background: Desmoid tumors occur throughout the body, presenting as aggressive, locally invasive lesions that can impede quality of life. Many controversies remain regarding the optimal surgical treatment of desmoid. This article presents a systematic review and meta-analysis on surgical management, focusing on risk of recurrence and the utility of reconstruction within this unique patient population., Methods: A systematic review was conducted to search for articles. The clinical course of patients diagnosed with desmoid tumors and treated by our institution's multidisciplinary team was retrospectively reviewed over a 13-year period. Meta-analysis study findings were compared with our cohort., Results: From the systematic review, 10 studies with level of evidence III were found, which resulted in 981 patients. Twenty patients from our institution met the inclusion criteria for our study. In both our study cohort and the pooled results, recurrence was significantly higher in patients with positive microscopic margin after resection. In our study cohort, patients with recurrence had higher rates of positive margins compared with those without recurrence (83.3% vs 7.1%, P = 0.004), whereas the pooled study showed a difference of margin positivity of 50% vs 40% ( P = 0.01). No patients who underwent reconstruction in our study cohort had a recurrence during the study period., Conclusion: In both our cohort and pooled results, recurrence was significantly higher in patients with positive margins after initial resection. Reconstruction was not found to be a risk factor for recurrence. Reconstruction following desmoid tumor resection should be considered a viable option if a large and aggressive resection is required to obtain negative margins., Competing Interests: Conflicts of interest and sources of funding: none declared., (Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.)

A 39-year-old woman presented to the Emergency Department with dysuria and persistent abdominal pain for several weeks. The pain increased with palpation. Physical examination was otherwise normal. Computerized tomography (CT) scan revealed a round structure of unknown origin against the caecum and terminal ilium suspect for a GIST tumor and a fluid-filled right uterine tube suggestive of pyosalpinx. The following day a laparoscopic surgery with removal of the pyosalpinx and complete right hemi-colon including the suspected lesion was performed and biopsies of the surrounding peritoneum, meso and ileum were taken. Immunohistochemical tests (CD117/DOG1) and molecular analysis (KIT/PDGFRA) ruled out GIST. SMA and desmin were also negative. β-catenin along with next generation sequencing which revealed a likely pathogenic mutation in exon 3 of the CTNNB1 gene, suggested a diagnosis of desmoid-type fibromatosis (DF). Biopsies of the lymph nodes were negative.

Competing Interests: Declaration of competing interest The author discloses no conflicts.

Background: Desmoid tumours are benign fibromatous tumours arising from dysregulated myofibroblast proliferation within musculoaponeurotic structures. They can occur sporadically but more commonly are associated with genetic syndromes such as familial adenomatous polyposis (Sakorafas et al. in Surg Oncol 16(2):131-142, 2007) (FAP). Mutations in either the Wnt, β-catenin or APC genes are 'key' triggers for the development of these tumours (Howard and Pollock in Oncol Ther 4(1):57-72, 2016). Classically, these tumours do not metastasise; however, they are associated with significant morbidity and mortality due to their infiltrative pattern and/or local invasion. Historically, surgical resection was the cornerstone of treatment. There remains paucity of data regarding outcomes following the surgical management of abdominal desmoid tumours in terms of success, recurrence and morbidity., Objectives: The aim of this review was to assess the current evidence for surgical management of abdominal desmoid tumours in terms of success, recurrence and morbidity., Methods: A systematic search of articles in PubMed, EMBASE and The Cochrane Library databases was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines for the period from January 2000 to November 2020., Results: Twenty-three studies were included, of which, 749 patients had surgical resection (696 for primary and 53 for recurrent desmoids), 243 patients (18.8%) were medically managed and 353 patients (27.3%) underwent surveillance. Median follow-up was 51.4 months (range 1-372). Six-hundred and ninety-six of the 749 resections (92.9%) underwent primary desmoid resection, with the remaining 53 (7.1%) undergoing resection for recurrence. One-hundred and two surgically managed patients (19%) developed a (re)recurrence, with mesenteric involvement the commonest site for recurrence (55%). When comparing recurrence post-surgery to progression following medical therapy, there was a trend towards better outcomes with surgery, with 25% of surgical patients having a recurrence versus 50.5% having progression with medical therapy [OR 0.40 (95% CI 0.06-2.70), p = 0.35]. Major morbidity following surgery was 4.4% (n = 33) with 2% (n = 14) mortality within 30 days of resection., Conclusion: The management of desmoids has considerable heterogeneity. Surgical resection for abdominal desmoids remains a valid treatment option in highly selective cases where negative margins can be obtained, with low major morbidity and/or mortality., (© 2022. The Author(s).)

Introduction: Desmoid fibromatosis is a multifactorial disorder classified as a category of intermediate, locally aggressive behaviour, which might be associated with CTNNB1 or APC mutations, trauma, surgery, or pregnancy., Case Reports: We present two cases of postoperative intra-abdominal desmoid fibromatosis. The first case occurred 14 months after the resection of a retroperitoneal gastrointestinal stromal tumour. The second case was located in the mesentery, as evidenced on an 18-month followup after a laparoscopy-assisted anterior resection for adenocarcinoma at the rectosigmoid junction. Under the clinical diagnosis of recurrence, tissue excisions were conducted. Microscopically, the tissue was composed of bland spindle cells without cytological atypia, admixed with collagen bundles. Both tumours exhibited nuclear expression of β-catenin on immunohistochemical staining, which is a desirable criterion for desmoid fibromatosis., Discussion: Although positron emission tomography aids the diagnosis of recurrence, the radiological features of desmoid fibromatosis in computed tomography or magnetic resonance images are nonspecific and preoperative diagnosis of desmoid fibromatosis is difficult. The histological diagnosis of desmoid fibromatosis is difficult, especially when the specimen is small. The histological differential diagnosis of desmoid fibromatosis includes other myofibroblastic or fibroblastic tumours or lesions. Additional studies, such as β-catenin immunohistochemistry or CTNNB1 mutation analysis, can enable accurate diagnosis of desmoid fibromatosis. A correct diagnosis is essential, because the current therapeutic strategy is a "waitand- watch" approach, which is significantly different from those of the other locally aggressive, intermediate soft tissue neoplasms. We have summarised the clinicopathological, histological and immunohistochemical features of the post-operative desmoid fibromatosis.

Aggressive fibromatosis, histologically classified as benign due to the absence of metastasis, is characterised by locally invasive and destructive growth with high recurrence rates after resection. For this reason, prognostic recurrence factors, in particular the extent of resection, are much debated, and treatment decisions seem challenging for interdisciplinary tumour conferences. Between the years 2000 and 2020, 110 patients with aggressive fibromatosis of the extremities or trunk received surgical treatment at BG University Hospital Bergmannsheil (Bochum, Germany). Univariate analyses were performed to detect any potential prognosis factors. The median follow-up time was 5.9 years. A total of 57 (51.8%) of these patients developed recurrence during this period. The 5-year recurrence-free survival was 52.9% (95% CI: 42.4-62.3) in the entire cohort. In R0-resected patients, the 5-year recurrence-free survival (RFS) was significantly better (p<0.001) at 69.2% compared with patients with R1 or R2-resected tumours (32.6%). Beyond that, no other significant influencing factors were identified. The results of this study indicate that R0 resection or R0 resectability were associated with a significantly better local control. The therapeutic recommendation for resection should be made individually by an interdisciplinary tumour board in due consideration of tumour progression, possible therapeutic alternatives, and foreseeable functional impairment., Competing Interests: Die Autorinnen/Autoren geben an, dass kein Interessenkonflikt besteht., (Thieme. All rights reserved.)

Background: Active surveillance (AS) has been suggested for managing extra-abdominal desmoid fibromatosis (EADF), but a substantial percentage of such patients transitioned to invasive secondary treatments. The anti-keloid medication tranilast is frequently used in Japan but its effectiveness for EADF is not well understood., Methods: We retrospectively analyzed the medical records of EADF patients treated with tranilast between January 2009 and March 2021. EADF has been reported to shrink spontaneously, so the effects of all drugs must be compared with AS. To assess the effect of tranilast, we compared the clinical courses of patients receiving tranilast with those managed by AS (as identified in a systematic review). A systematic review of AS outcomes was conducted on July 22, 2021, in accordance with PRISMA guidelines. The primary endpoint was rate of conversion to secondary treatment. Secondary endpoints were progression-free survival, objective response rate (ORR), disease control rate (DCR), and adverse events. The rates of conversion to secondary treatment, ORRs, and DCRs were compared between the two groups by using the Fisher exact test., Results: Eighteen patients who received tranilast as initial treatment for EADF were included. Two patients (11.1%) underwent surgical resection for treatment of tumor growth and persistent pain. The rate of conversion to secondary treatment was significantly lower for tranilast than for a pure AS approach (40.1%; p = 0.01). ORR and DCR did not differ between groups., Conclusions: Tranilast was better than AS for initial management of EADF.

The patient is a 22-year-old, female. She had a family history of familial adenomatous polyposis(FAP)and a prophylactic total colorectal resection was performed for FAP at age of 18. She presented with fever and abdominal distention and palpated a mass with tenderness in the right lower abdomen. Contrast-enhanced CT scan of the abdomen showed a heterogeneous contrast effect around the tumor margins. With the diagnosis of intra-abdominal desmoid tumor, a partial duodenal resection, small bowel mass resection, and right fallopian tube resection were performed along with the tumor, and an artificial anus was created with the jejunum. Contrast-enhanced CT scan of the abdomen 16 months after resection of desmoid tumor showed a 6.5 cm long desmoid tumor recurrence in the mesentery. She received 5 courses of doxorubicin (DOX)plus dacarbazine(DTIC)therapy followed by continued NSAIDs. Seven years after the operation, she has been able to maintain the shrinkage of the recurrent tumor and is still on medication. Long-term surveillance is necessary because of the possibility of the appearance of other associated lesions in the future.

Desmoid-type fibromatosis (DF) is a rare soft tissue lesion with an annual incidence of 2 to 4 per million population and peak incidence occurring at approximately 4.5 years of age. While benign, the tumor has a locally aggressive infiltrative growth pattern and a high rate of recurrence. Given the functional and aesthetic implications of excision and reconstruction in the facial skeleton, novel medical treatment options are highly desirable. We describe the case of a 3-year-old boy who presented with an enlarging, asymptomatic mass involving the left mandible. Biopsy revealed an immunohistochemical profile consistent with DF. Despite the high likelihood of recurrence, conservative, mandible-sparing en bloc resection and limited mandibulectomy were performed. Pathological and immunohistochemical analysis of the resection specimen revealed DF with grossly positive margins and elevated expression of angiotensin II type 1 receptor. Postoperative medical treatment with the angiotensin receptor blocker losartan was initiated. The patient remains medically stable and disease progression-free on repeat imaging at 20 months post-resection. We describe for the first time the successful use of the angiotensin blocker losartan following conservative surgery for management of DF.

Desmoid tumors (DTs) account for 3% of all soft tissue tumors. They are benign and have no malignant potential with a favorable prognosis, and predominantly occur in young women. The pathogenesis and clinical behavior of DTs are still uncertain. In addition, most cases of DTs were associated with abdominal trauma (including surgery), while genitourinary involvement seemed to be quite rare. Up to now, there has been only one DT case with urinary bladder involvement reported in the literature. We, Hereby, report a 67-year-old male patient with left lower abdominal pain while micturition. Computed tomography (CT) showed a mass located at the lower aspect of the left rectus muscle with an extension attached to the urinary bladder. Based on the pathological findings of tumor specimen, a diagnosis of benign desmoid tumor (DT) of the abdominal wall was made. Laparotomy with wide local excision was carried out. The patient had a smooth postoperative recovery and was discharged after 10 days. Introduction:Historically, MacFarland first described these tumors in 1832. Etymologically, the word desmoid was first coined by Muller in 1838 and is derived from the Greek word desmos, which means band or tendon-like. Stout first used the term fibromatosis in 1961[1,2,3]. Desmoid tumors (DTs) are a kind of rare neoplasm, which represents 3% of all soft tissue tumors and 0.03% of all neoplasms with an incidence of 5 to 6 per million of the population per annum[4,5,6]. DTs predominantly affect young females with a median age of 30 to 40 years old and is more than twice in female than male patients. However, there is no gender preference in older patients [7,8]. Furthermore, the symptoms of DTs are not typical in general. Symptoms can occasionally occur due to the size and location of the tumor but usually are nonspecific. Because of its rarity and unusual behavior, DT is often associated with diagnostic and therapeutic challenges. Computed tomography (CT) and magnetic resonance imaging (MRI) is beneficial for the diagnosis of this tumor but pathological diagnosis is mandatory. Surgical resection is now considered as the most efficient treatment option for patients with DT, because it offers a good chance of long-term survival. Our case is of unusual presentation and finding of abdominal wall desmoid tumor with an extension to urinary bladder in a male patient who is 67 years old. Keywords: desmoid tumor, fibromatosis, spindle cell tumor, urinary bladder.

Objective: Desmoid fibromatosis (DF) is a rare, locally aggressive soft tissue tumor. Computed tomography (CT) and magnetic resonance imaging (MRI) play a critical role in the diagnosis of DF and in developing treatment plans. Currently, observation is the primary therapeutic option for a biopsy-confirmed DF. Here, we present a case of a DF that was misdiagnosed as uterine fibroid before surgery., Case Report: A 36-year-old woman presented with urinary frequency and a palpable lower abdominal mass, which was suspected as uterine fibroid based on sonography and CT. During surgery, an abdominal wall mass was found to be densely adherent to the bladder. Permanent pathology revealed that the tumor was desmoid-type fibromatosis., Conclusion: Desmoid tumors often occur in the abdomen, abdominal wall, extremities, head, and neck. Abdominal wall DF involving the rectus abdominis muscles is most commonly observed. Conversely, desmoid tumors involving the bladder are less described. The review of similar cases reported since 1985 showed that partial cystectomy was primarily performed for complete resection., Competing Interests: Declaration of competing interest The authors have no conflicts of interest relevant to this article., (Copyright © 2023. Published by Elsevier B.V.)