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Background: Desmoid tumor (DT) is a non-encapsulated and locally aggressive benign neoplasm. Although it does not have malignant behavior, it has a high capacity for local growth. Intracranial DTs are extremely rare and constitute a major diagnostic and therapeutic challenge. In these cases, neurosurgical intervention is the best option and should be performed early; however, it is still little discussed in the literature. Case presentation: We report the case of a 50-year-old male patient, complaining of pain in the region of the right ear and discomfort in the region of the maxilla on the same side for 5 months. Contrast-enhanced magnetic resonance image (MRI) of the skull base and face showed a homogeneous contrast uptake lesion in the region of Meckel's cave extending inferiorly to the infratemporal fossa with an intracranial and extracranial portion. The patient underwent partial resection of the lesion. The anatomopathological examination showed an infiltrative fibroproliferative lesion ("desmoid-like"), and immunohistochemistry showed myofibroblastic differentiation leading to the possibility of DT. Despite two attempts, the difficult related to skull base location and local invasiveness and the sarcomatous transformation our patient evolved with death 23 months after the diagnosis. Conclusions: Intracranial DT is a rare and difficult-to-control condition, because despite being considered benign, its infiltrative nature becomes a challenge in neurosurgical management. Neurosurgery has a positive impact on the quality of life of these patients, considering the improvement of symptoms and the possibility of making a more appropriate diagnosis. [ABSTRACT FROM AUTHOR]

Liposarcoma is a malignant soft tissue tumor with several subtypes, the most common of which is well-differentiated liposarcoma (WDL) or atypical lipomatous tumor (ALT). WDL/ALTs are further divided into three histological subtypes, including lipoma-like, sclerosing, and inflammatory. While the majority of these tumors are predominantly fatty, the sclerosing variant demonstrates diverse histologic and radiographic characteristics, including variable amounts of fibrosis and fat. Because of this histological variability and relative rarity, the sclerosing WDL/ALT can present diagnostic dilemmas. We present two cases of sclerosing WDL/ALT, both of which demonstrated high degrees of fibrosis and a paucity of fat, mimicking desmoid fibromatosis and other fibrotic soft tissue tumors. Thus, it is important for radiologists to be aware of the subtypes of liposarcoma and their unique characteristics, and to consider sclerosing WDL/ALT in cases of fibrotic soft tissue tumors. [ABSTRACT FROM AUTHOR]

Background: Sporadic desmoid fibromatosis (DF) is a rare locally aggressive tumor characterized by mutation in exon 3 of CTNNB1 (T41A, S45F, and S45P). Standard of care is active surveillance (AS), but 30% require treatment. DF clinical course is unpredictable and identification of prognostic markers is needed to tailor strategy. In this prospective study, we investigated the consistency between mutation detected in tumor biopsies with that detected in plasma by digital droplet PCR (ddPCR) and the association between circulating tumor DNA (ctDNA) abundancy with clinical outcome. Patients and Methods: A total of 56 patients and 10 healthy donors were included. CTNNB1 mutation status of DF biopsies was determined by Sanger and in case of WT CTNNB1 with NGS. In matched plasma samples at enrollment and during AS at specific timepoints, we evaluated cfDNA quantity and ctDNA. Results: ctDNA levels were measured in 46 patients with CTNNB1 mutation. Detection rate for T41A, S45F and S45P was 68%, 42% and 100%, respectively. S45P variant has been detected in all patients with S45P mutation. Longitudinal assessment of ctDNA during AS in nine patients (four with regression and five with progression as first event according to RECIST) showed a concordance between the event and ctDNA level change in six out of nine patients tested (4/5 with progression and 2/4 with regression). Conclusions: Results of ctDNA analysis support its potential clinical implementation as diagnostic tool in specific clinical scenarios where biopsy can be challenging. A prospective clinical trial needs to be performed to evaluate the potential role of ctDNA as predictive biomarker. [ABSTRACT FROM AUTHOR]

Desmoid fibromatosis (DF) is an extremely rare tumor, which is locally aggressive in nature with no metastatic potential. Presenting symptoms depend on tumor size, site and progression speed. Most commonly occur sporadically, or associated with familial adenomatous polyposis (FAP). Factors may contribute to develop DF are trauma or surgical incision. In this article, we report a 41-years old male, which had partial upper pole nephrectomy, and developed lower pole desmoid fibrosis proven by histopathology.To our best knowledge, there are no article discussed the 2 different tumors occur in the same kidney at 2 different locations.

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. [ABSTRACT FROM AUTHOR]

Desmoid fibromatosis (DF) is defined as a borderline tumor of the soft tissues with a low malignant potential. The most common tumor sites are the extremity, trunk, abdominal cavity, and head and neck. Surgical resection has been the standard treatment for DF. However, there are concerns regarding long-term cosmetic outcomes or functional morbidity associated with surgery particularly in the head and neck. Recently, the use of the front-line wait-and-see strategy and pharmacologic treatment such as chemotherapy for progression has been proposed as tumors can spontaneously stabilize and regress. Herein, we report the efficacy of vinblastine (VBL) and methotrexate (MTX) in a childhood patients with DF. A 21-month-old female patient with a 4-cm tumor at the left lower jaw was diagnosed with DF. She did not initially receive any therapies (wait-and-see) according to the recent treatment guidelines. However, the tumor gradually progressed, and the patient was managed with COX2 inhibitor. Since the tumor was not controlled with such a treatment and tracheal exclusion caused by the mass was a cause of concern, the patient was managed with chemotherapy with VBL and MTX. VBL and MTX were administered weekly for 26 weeks, every other week, and further for 26 weeks. The tumor size gradually decreased with VBL and MTX. Magnetic resonance imaging revealed no evidence of the disease at the end of chemotherapy. Good cosmetic outcomes were achieved, and recurrence was not observed after 24 months of follow-up. [ABSTRACT FROM AUTHOR]

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.

Abstract Background Typically, researchers and clinicians determine the agenda in sarcoma research. However, patient involvement can have a meaningful impact on research. Therefore, the Patient-Powered Research Network (PPRN) of the Sarcoma Patient Advocacy Global Network (SPAGN) set up a Priority Setting Partnership (PSP). The primary objective of this partnership is to identify priorities for research and patient advocacy topics. Methods In the first phase of this PSP, including 264 sarcoma patients and carers from all over the world, 23 research topics regarding sarcomas and 15 patient advocacy topics were identified using an online survey. In the second phase, participants were asked to fill in a top five and a top three of research and patient advocacy topics, respectively. Additionally, sociodemographic characteristics and sarcoma characteristics were collected. Social media channels, local national patient advocacy groups and the SPAGN website were used to distribute the survey. Results In total, 671 patients (75%) and carers (25%) participated in this survey. The five highest ranked research topics were related to causes of sarcoma (43%), prognosis and risk of recurrence (40%), specific subtypes of sarcoma (33%), the role of immunotherapy, targeted therapy and combined therapy (30%), and hereditary aspects (30%). The three highest ranked patient advocacy topics were improving the diagnostic process of sarcoma (39%), access to tumor DNA analysis (37%) and establishing an international sarcoma registry (37%). Conclusions This sarcoma PSP has identified priorities for research and patient advocacy, offering guidance for researchers, assisting funding agencies with assessing project relevance and empowering patient advocates to represent the needs of patients and carers.

Background: Typically, researchers and clinicians determine the agenda in sarcoma research. However, patient involvement can have a meaningful impact on research. Therefore, the Patient-Powered Research Network (PPRN) of the Sarcoma Patient Advocacy Global Network (SPAGN) set up a Priority Setting Partnership (PSP). The primary objective of this partnership is to identify priorities for research and patient advocacy topics. Methods: In the first phase of this PSP, including 264 sarcoma patients and carers from all over the world, 23 research topics regarding sarcomas and 15 patient advocacy topics were identified using an online survey. In the second phase, participants were asked to fill in a top five and a top three of research and patient advocacy topics, respectively. Additionally, sociodemographic characteristics and sarcoma characteristics were collected. Social media channels, local national patient advocacy groups and the SPAGN website were used to distribute the survey. Results: In total, 671 patients (75%) and carers (25%) participated in this survey. The five highest ranked research topics were related to causes of sarcoma (43%), prognosis and risk of recurrence (40%), specific subtypes of sarcoma (33%), the role of immunotherapy, targeted therapy and combined therapy (30%), and hereditary aspects (30%). The three highest ranked patient advocacy topics were improving the diagnostic process of sarcoma (39%), access to tumor DNA analysis (37%) and establishing an international sarcoma registry (37%). Conclusions: This sarcoma PSP has identified priorities for research and patient advocacy, offering guidance for researchers, assisting funding agencies with assessing project relevance and empowering patient advocates to represent the needs of patients and carers. [ABSTRACT FROM AUTHOR]

Purpose: Desmoid fibromatosis in head and neck is infrequent and poses a significant challenge to the clinicians due to its non-specific characteristics. Methods: This case report focuses on a 69-year-old male who presented to a tertiary healthcare center in Karnataka, India with a swelling in the oral cavity. Results: Despite initial suspicions of malignancy based on clinical examination and findings on computed tomography imaging, subsequent histopathology and immunohistochemistry revealed an unexpected finding. Conclusion: The case highlights the importance of clinical suspicion and histopathological evaluation as well as the need for greater awareness to facilitate early diagnosis and appropriate management of desmoid fibromatosis. We also present a literature review of varied presentations of desmoid tumors afflicting various subsites of the head and neck. [ABSTRACT FROM AUTHOR]

Introduction: Desmoid fibromatosis is an aggressive fibroblastic neoplasm with a high propensity for local recurrence. Targeted therapy for Desmoid fibromatosis represents a novel avenue in systemic treatment. Anlotinib, a novel multitargeted angiogenesis inhibitor, represents a novel approach for targeted therapy. Therefore, this study aims to assess the efficacy and safety of anlotinib in patients with Desmoid fibromatosis. Methods: We retrospectively gathered the clinical medical records of Desmoid fibromatosis patients who underwent anlotinib treatment between June 2019 and November 2023 at our center. Anlotinib was initiated at a daily dose of 12 mg and adjusted based on drug-related toxicity. Tumor response was evaluated using the Response Evaluation Criteria in Solid Tumors 1.1 criteria. Progression-free survival served as the primary endpoint and was analyzed utilizing the Kaplan-Meier method. Results: In total, sixty-six consecutive patients were enrolled. No patients achieved a complete response; however, fourteen patients (21.21%) exhibited a partial response, while forty-six patients (70%) experienced disease stability. Progressive disease was observed in 6 patients (9.10%), and the progression-free survival rates at 12 and 36months were 89.71% and 82.81%, respectively. The disease control rate was 90.91%, while the objective response rate was 21.21%. Conclusion: Anlotinib proves effective in managing recurrent and symptomatic patients with Desmoid fibromatosis. However, the toxicity profile of anlotinib presents a higher risk of Hand-Foot Skin Reaction and hypertension. Therefore, given that 41.67% of patients were subjected to dose adjustments associated with the initial dose of 12 mg, implementing dosage reductions may help balance efficacy with side effects. [ABSTRACT FROM AUTHOR]

CTNNB1 mutations play important roles in the development of soft tissue tumors, such as desmoid fibromatosis (DF), sinonasal tract angiofibroma, sinonasal glomangiopericytoma, intranodal palisaded myofibroblastoma, neuromuscular choristoma (NMC), and the recently reported pseudoendocrine sarcoma. Here, we report a unique hybrid soft tissue tumor with classic DF, unusual epithelioid component, and NMC in a 23-year-old female. The classic DF and NMC and the unusual epithelioid component and NMC were locally intermixed and closely related to each other. Immunohistochemically, the DF, unusual epithelioid component, and NMC exhibited nuclear positivity for β-catenin to varying degrees. More critically, all of the above components harbored identical CTNNB1 p.Ser45Pro missense mutations. To the best of our knowledge, this is the only reported CTNNB1 mutation-driven hybrid tumor with DF, unusual epithelioid component, and NMC. The present case further confirmed that CTNNB1-mutational soft tissue tumors are highly heterogeneous, but the morphological spectrum is wide and consecutive. [ABSTRACT FROM AUTHOR]

Background: Desmoid fibromatosis (DF) is a pathological intermediate fibroblastoma that is difficult to control locally due to its invasive nature, especially in the extremities. Although anlotinib demonstrated efficacy in treating DF with tolerable safety, the impact of surgical intervention in conjunction with anlotinib administration on local control in patients with extremity DF remains undetermined. Methods: We conducted a retrospective examination of the clinical medical documentation belonging to patients with resectable DF of the extremities who were treated with surgery between January 2010 and June 2022. The patients were divided into two cohorts: surgery alone cohort and surgery combined with anlotinib group (surgery plus anlotinib cohort), crossover to surgery plus anlotinib cohort was admissible for patients in the surgery alone cohort who experienced disease recurrence postoperatively. Clinical data such as basic information, tumor location, anlotinib toxicity, time to recurrence, surgical complications, follow-up time, visual analogue scale (VAS) score and Musculoskeletal Tumor Society (MSTS) score at the last follow-up were collected. Results: In total, 48 consecutive patients (19 males and 29 females) with resectable DF of the extremities, including 25 patients in the surgery alone cohort, 23 patients in the surgery plus anlotinib cohort, and 10 patients who were transferred from the surgery alone cohort to the surgery plus anlotinib cohort. The VAS score at the last follow-up was 5 (IQR, 3–6) in the surgery alone cohort and 2 (IQR, 1–3) in the surgery plus anlotinib cohort, respectively; the MSTS score at the last follow-up was 19 (IQR, 16.5–24) in the surgery alone cohort and 27 (IQR, 25–28) in the surgery plus anlotinib cohort, respectively; these characteristics were statistically different between the two cohorts. The 3- year recurrence-free survival (RFS) of the surgery alone cohort and the surgery plus anlotinib cohort were 37.7% and 72.6%, respectively, and the difference was statistically significant (p = 0.022). Conclusion: Surgery combined with anlotinib appears to be effective in controlling local recurrence in patients with resectable DF of the extremities, and the side effects were acceptable. [ABSTRACT FROM AUTHOR]

We present a unique case of a male patient with a history of gynecomastia, who sought medical evaluation due to the discovery of a palpable left breast mass. Mammography revealed a spiculated mass in the upper quadrant of the left breast at 10-o'clock, and subsequent ultrasound and MRI confirmed its presence. Ultrasound-guided biopsy identified the mass as desmoid fibromatosis. This case highlights the diagnostic challenge posed by desmoid fibromatosis, especially in men, as it can mimic breast cancer both clinically and radiologically. Desmoid fibromatosis, although locally invasive, does not metastasize and necessitates extensive resection due to a high recurrence rate.

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. [ABSTRACT FROM AUTHOR]

Capillary leak syndrome is a rare life-threatening disorder of acute endothelial hyperpermeability. It consists of initial fluid extravasation resulting in hypotension, hypoalbuminemia, and hemoconcentration, followed by noncardiogenic pulmonary edema from rapid fluid remobilization into intravascular compartment. Drug-induced etiology is an important diagnostic consideration in cancer patients, particularly with use of antimetabolites, immunostimulants, and monoclonal antibodies. Sorafenib-mediated capillary leak syndrome has never been reported. Here, we present the case of a 29-year-old female patient with a desmoid tumor of the thigh, who was admitted for acute hypoxic respiratory failure after recent initiation of sorafenib. She was found to have extensive pulmonary edema, bilateral pleural effusions, and hemoconcentration, all of which stabilized on supportive care with noninvasive mechanical ventilation and intravenous diuresis. Her infectious and cardiac work-up were negative. Given the temporal relationship between sorafenib use and symptom onset as well as a lack of an alternative etiology of her findings, patient was deemed to have sorafenib-induced acute capillary leak syndrome. Importantly, she did not become hypotensive prior to or during this hospitalization. To our knowledge, we reported for the first time an atypical presentation of acute capillary leak syndrome due to sorafenib use without hemodynamic instability.

Desmoid fibromatosis is also known as aggressive fibromatosis. It is a neoplastic monoclonal proliferation of fibroblasts, with an incidence of 2 to 4 per million per year. Its incidence peaks at 8 years of age and in the third/fourth decades of life. Here we discussed a patient in third decade of life who presented with unilateral nasal blockage with a picture suggestive of sinonasal polyposis on examination. On histopathology, he was diagnosed with Desmoid fibromatosis. Though a rare entity, Desmoid fibromatosis should be kept in mind as a differential diagnosis for appropriate patient management. As per our knowledge, in India this is the first documented case of desmoid fibromatosis arising from maxillary sinus. [ABSTRACT FROM AUTHOR]

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

With increasing multidisciplinary management and emphasis on masterly inactivity for abdominal fibromatosis (AF), the indications for surgery are evolving. This retrospective analysis looked at outcomes following surgery. Two groups of patients who underwent surgery for AF between November 2011 and August 2021 were identified—intra-abdominal fibromatosis (IAF) and abdominal wall fibromatosis (AWF). All treatment-related details and follow-up data were gathered from a database and analyzed. Sixteen patients underwent surgery for IAF. R0 resection (wide margin) was achieved in 13 patients (81.2%). Over a median follow-up period of 51.7 (range 5–103) months, 5 patients developed recurrence (31.2%). The conditional probabilities of OS and DFS at 5 years were 80% (95% CI 58.7–100) and 42.2% (95% CI 20.3–87.8), respectively. Ten patients with AWF underwent surgery. R0 resection was achieved at 70% (7/10). Over a median follow-up period of 54.8 (range 12.9–96.7) months, 2 patients (20%) developed recurrence. The conditional probabilities of OS and DFS at 5 years were 88.9% (95% CI 70.6–100) and 77.8% (95% CI 54.9–87.8), respectively. Surgery has a vital role in the management of AF presenting with progressive/symptomatic lesions, especially when watchful waiting is not an option, and must be considered as one of the first-line active therapy. Timely curative surgery avoids disease progression and its morbidity with acceptable recurrence rates and provides durable remissions. [ABSTRACT FROM AUTHOR]

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.

Locally aggressive mesenchymal tumors comprise a heterogeneous group of soft tissue and bone tumors with intermediate histology, incompletely understood biology, and highly variable natural history. Despite having a limited to absent ability to metastasize and excellent survival prognosis, locally aggressive mesenchymal tumors can be symptomatic, require prolonged and repeat treatments including surgery and chemotherapy, and can severely impact patients' quality of life. The management of locally aggressive tumors has evolved over the years with a focus on minimizing morbid treatments. Extensive oncologic surgeries and radiation are pillars of care for high grade sarcomas, however, play a more limited role in management of locally aggressive mesenchymal tumors, due to propensity for local recurrence despite resection, and the risk of transformation to a higher-grade entity following radiation. Patients should ideally be evaluated in specialized sarcoma centers that can coordinate complex multimodal decision-making, taking into consideration the individual patient's clinical presentation and history, as well as any available prognostic factors into customizing therapy. In this review, we aimto discuss the biology, clinicalmanagement, and future treatment frontiers for three representative locally aggressive mesenchymal tumors: desmoid-type fibromatosis (DF), tenosynovial giant cell tumor (TSGCT) and giant cell tumor of bone (GCTB). These entities challenge clinicians with their unpredictable behavior and responses to treatment, and still lack a well-defined standard of care despite recent progress with newly approved or promising experimental drugs. [ABSTRACT FROM AUTHOR]

Locally aggressive mesenchymal tumors comprise a heterogeneous group of soft tissue and bone tumors with intermediate histology, incompletely understood biology, and highly variable natural history. Despite having a limited to absent ability to metastasize and excellent survival prognosis, locally aggressive mesenchymal tumors can be symptomatic, require prolonged and repeat treatments including surgery and chemotherapy, and can severely impact patients’ quality of life. The management of locally aggressive tumors has evolved over the years with a focus on minimizing morbid treatments. Extensive oncologic surgeries and radiation are pillars of care for high grade sarcomas, however, play a more limited role in management of locally aggressive mesenchymal tumors, due to propensity for local recurrence despite resection, and the risk of transformation to a higher-grade entity following radiation. Patients should ideally be evaluated in specialized sarcoma centers that can coordinate complex multimodal decision-making, taking into consideration the individual patient’s clinical presentation and history, as well as any available prognostic factors into customizing therapy. In this review, we aim to discuss the biology, clinical management, and future treatment frontiers for three representative locally aggressive mesenchymal tumors: desmoid-type fibromatosis (DF), tenosynovial giant cell tumor (TSGCT) and giant cell tumor of bone (GCTB). These entities challenge clinicians with their unpredictable behavior and responses to treatment, and still lack a well-defined standard of care despite recent progress with newly approved or promising experimental drugs.

Desmoid fibromatosis (DSM) is a rare, locally aggressive mesenchymal tumor genetically characterized by mutations in the CTNNB1 gene. A local control rate of up to 65‒80% for DSM is achieved with multiple modality treatments, including watchful monitoring, radiation therapy, chemotherapy, and surgery. However, several variables, such as age < 30 years, extremity tumor location, and tumor size of > 10 cm in diameter, are associated with poor local control rates in patients with DSM. The definitive treatments for DSM have not been established. Therefore, it is necessary to develop novel treatments for DSM. Moreover, although patient-derived tumor cell lines are potent tools for preclinical research, no DSM cell lines have been reported. Therefore, this study aimed to establish and characterize a novel DSM cell line for preclinical studies on DSM. Herein, we established the first cell line derived from a patient with DSM exhibiting poor prognostic factors (27-year-old male patient with a DSM tumor of > 10 cm in diameter located at the lower extremity) and named it NCC-DSM1-C1. NCC-DSM1-C1 cells had a T41A mutation in CTNNB1 and exhibited constant proliferation, spheroid formation, and invasion capability in vitro. Screening of antitumor agents in NCC-DSM1-C1 cells showed that bortezomib and romidepsin are effective against DSM. In conclusion, we report the first officially characterized DSM cell line derived from a patient with DSM exhibiting factors associated with poor prognosis. We believe that NCC-DSM1-C1 cell line is a useful tool for developing novel treatments for DSM. [ABSTRACT FROM AUTHOR]

Abstract Medulloblastoma is the most common pediatric embryonal brain tumor, and may occur in cancer predisposition syndromes. We describe novel associations of medulloblastoma with atypical prolactinoma and dural high-grade sarcoma in Li-Fraumeni syndrome (LFS), and epidural desmoid fibromatosis in familial adenomatous polyposis (FAP)/Turcot syndrome. Genomic analysis showing XRCC3 alterations suggested radiotherapy as contributing factor to the progression of LFS-associated medulloblastoma, and demonstrated different mechanisms of APC inactivation in the FAP-associated tumors. The integrated genomic-transcriptomic analysis uncovered the growth pathways driving tumorigenesis, including the prolactin-prolactin receptor (PRLR) autocrine loop and Shh pathway in the LFS-associated prolactinoma and medulloblastoma, respectively, the Wnt pathway in both FAP-associated neoplasms, and the TGFβ and Hippo pathways in the soft tissue tumors, regardless of germline predisposition. In addition, the comparative analysis of paired syndromic neoplasms revealed several growth pathways susceptible to therapeutic intervention by PARP, PRLR, and selective receptor tyrosine kinase (RTK) inhibitors. These could target the defective DNA damage repair in the LFS-associated medulloblastoma, the prolactin autocrine loop in the atypical prolactinoma, the EPHA3/7 and ALK overexpression in the FAP-associated medulloblastoma, and the multi-RTK upregulation in the soft tissue neoplasms. This study presents the spatiotemporal evolution of novel neoplastic associations in syndromic medulloblastoma, and discusses the post-radiotherapy risk for secondary malignancies in syndromic pediatric patients, with important implications for the biology, diagnosis, and therapy of these tumors. Video Abstract

Abstract A collision tumor is a neoplastic lesion comprised of two or more distinct cell populations with distinct borders. Desmoid fibromatosis (DF) is a rare musculoaponeurotic tissue tumor that grows deep in the connective tissue and shows locally aggressive behavior. Only two cases of collision tumors with desmoid fibromatosis are reported in the English literature, albeit papillary thyroid carcinoma with desmoid fibromatosis-like stroma is regarded as a variant rather than a collision tumor. We present a unique case of collision tumor with desmoid fibromatosis surrounding intra-abdominal metastasis from urothelial carcinoma. A 65-year-old white male with history of bladder and left renal pelvis high-grade papillary urothelial carcinoma status post-nephrectomy was found to have a small bowel obstruction due to a soft tissue mass. Histology of the mass showed multiple matted lymph nodes with metastatic urothelial carcinoma admixed with a proliferation of spindle cells positive for nuclear beta-catenin, consistent with desmoid fibromatosis. While the prior surgical site likely acted as a nidus for development of desmoid fibromatosis, we also hypothesize that a dysregulation of beta-catenin signaling pathways within the cancer cells might have attributed to the spindle cell proliferation in the stroma surrounding the tumor. Our case emphasized the importance of clinical suspicion of desmoid fibromatosis in patients with metastatic cancer, requiring a prompt diagnosis and treatment to decrease the risk of complications and local recurrence.

A 21-year-old healthy female presented with severe left lateral hip pain beginning suddenly two weeks prior. Physical examination revealed zero degrees of left hip external rotation passive range of motion with a firm end feel and pain severity and irritability out of proportion to an expected musculoskeletal presentation. She was referred to her physician with a recommendation for imaging to determine the source of pain and appropriateness of physical therapy. Magnetic resonance imaging revealed a foreign mass in her left gluteus medius muscle which biopsy revealed to be a desmoid fibromatosis. This case demonstrates a thorough differential diagnostic process leading to medical imaging referral in a patient with a non-musculoskeletal source of pain. Physical therapists must be diligent in their differential diagnostic process to ensure appropriateness of their treatments or the need for referral. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Capillary leak syndrome is a rare life-threatening disorder of acute endothelial hyperpermeability. It consists of initial fluid extravasation resulting in hypotension, hypoalbuminemia, and hemoconcentration, followed by noncardiogenic pulmonary edema from rapid fluid remobilization into intravascular compartment. Drug-induced etiology is an important diagnostic consideration in cancer patients, particularly with use of antimetabolites, immunostimulants, and monoclonal antibodies. Sorafenib-mediated capillary leak syndrome has never been reported. Here, we present the case of a 29-year-old female patient with a desmoid tumor of the thigh, who was admitted for acute hypoxic respiratory failure after recent initiation of sorafenib. She was found to have extensive pulmonary edema, bilateral pleural effusions, and hemoconcentration, all of which stabilized on supportive care with noninvasive mechanical ventilation and intravenous diuresis. Her infectious and cardiac work-up were negative. Given the temporal relationship between sorafenib use and symptom onset as well as a lack of an alternative etiology of her findings, patient was deemed to have sorafenib-induced acute capillary leak syndrome. Importantly, she did not become hypotensive prior to or during this hospitalization. To our knowledge, we reported for the first time an atypical presentation of acute capillary leak syndrome due to sorafenib use without hemodynamic instability. [ABSTRACT FROM AUTHOR]

Desmoid fibromatosis (DF) is a rare, non-metastasizing but locally aggressive mesenchymal tumor arising from fibroblasts or myofibroblasts. We report a solitary case of DF involving the retropharyngeal and danger spaces, a location rarely documented. The patient, a woman in her 70s, presented with progressive pharyngeal discomfort over six months. Imaging studies revealed a soft-tissue mass consistent with DF, and the diagnosis was confirmed pathologically. The tumor demonstrated unique imaging findings, including band-like hypointense areas on T2-weighted imaging on magnetic resonance imaging and moderate 2-deoxy-2-[ 18 F]fluoro-D-glucose uptake on positron emission tomography/computed tomography (PET/CT), which may aid in differentiating DF from malignant tumors in atypical locations. Furthermore, this case highlights the effectiveness of radiotherapy in achieving significant tumor reduction, offering insights into the management of DF in rare and challenging locations. These findings not only aid in refining the differential diagnosis but also provide evidence supporting radiotherapy as a viable treatment option in cases where surgical resection is unfeasible., Competing Interests: Human subjects: Consent for treatment and open access publication was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Ito et al.)

Desmoid type fibromatosis (DF) is a rare, locally aggressive but benign proliferation of fibrous tissue which produces a fibroblastic mass that can cause a wide range of symptoms secondary to mass effect. When resected, these masses most commonly recur in the first 2 years. We present a case of a 33-year-old male with a history of an appendectomy 2 years prior, though his pathology report did not identify inflammation in the appendix, who presented with gradual onset of abdominal pain, and radiographs that demonstrated a large mass in the right lower abdomen. Given his symptoms the mass was resected and pathologic evaluation revealed a desmoid tumor. This case presents a unique possibility of a recurrent desmoid tumor in which the patient's surgical history and radiographic findings can contribute to the overall management strategy of the patient given the evolving options for treatment of desmoid fibromatosis.

Desmoid fibromatosis is a rare, aggressive borderline lesion arising from soft tissues. Treatment will depend on the structures that the tumor has involved. Surgery with negative margins is the recommended strategy as it can usually achieve disease control; however, the tumor's location sometimes does not allow it. Therefore, a combination of medical therapies along with strict surveillance is crucial. We present the case of a 6-month-old boy with a chest mass. After further evaluation, a rapidly growing mediastinal mass involving the sternum and costal cartilage was detected. Desmoid fibromatosis was the final diagnosis.

Despite being distinct lesions, gastrointestinal stromal tumours (GISTs) and desmoid fibromatosis may appear similar on imaging when they involve the stomach wall or bowel. As a result, they may be confused with one another when initially diagnosed. This report aims to present a case where a desmoid tumour was mistaken for a gastric GIST in a 27-year-old gentleman despite extensive investigation prior to exploratory laparotomy, and why differentiation through pathology, with a focus on the immunohistochemistry profile, is key for proper prognostication and appropriate management, including timely investigation for associated diseases such as Familial Adenomatous Polyposis in patients with desmoid tumours.

A retroperitoneal finding on a computerized tomography scan, in a symptomatic patient, can harbor the clinician to many differential diagnoses from infectious to malignancy. Desmoid fibromatosis (DF), a relatively innocuous mass that can spread locally, can be found in that anatomical region. Even for a rare tumor such as DF, our patient did not meet the usual benchmarks of this cancer, being an elderly female and having it appear as an abscess radiologically. Timely clinical response with radiotherapy and tamoxifen allowed our patient’s DF to regress and resolved her symptoms.

Desmoid fibromatosis (DF) is a rare locally aggressive, connective tissue malignancy developing in musculoaponeurotic tissues with an incidence of 2–4 per million population. We presented a case of a 3-year-old patient with a left parapharyngeal mass, histopathological examination suggesting DF, who underwent complete surgical excision without recurrence or requirement of cardiac resynchronization therapy.

Medulloblastoma is the most common pediatric embryonal brain tumor, and may occur in cancer predisposition syndromes. We describe novel associations of medulloblastoma with atypical prolactinoma and dural high-grade sarcoma in Li-Fraumeni syndrome (LFS), and epidural desmoid fibromatosis in familial adenomatous polyposis (FAP)/Turcot syndrome. Genomic analysis showing XRCC3 alterations suggested radiotherapy as contributing factor to the progression of LFS-associated medulloblastoma, and demonstrated different mechanisms of APC inactivation in the FAP-associated tumors. The integrated genomic-transcriptomic analysis uncovered the growth pathways driving tumorigenesis, including the prolactin-prolactin receptor (PRLR) autocrine loop and Shh pathway in the LFS-associated prolactinoma and medulloblastoma, respectively, the Wnt pathway in both FAP-associated neoplasms, and the TGFβ and Hippo pathways in the soft tissue tumors, regardless of germline predisposition. In addition, the comparative analysis of paired syndromic neoplasms revealed several growth pathways susceptible to therapeutic intervention by PARP, PRLR, and selective receptor tyrosine kinase (RTK) inhibitors. These could target the defective DNA damage repair in the LFS-associated medulloblastoma, the prolactin autocrine loop in the atypical prolactinoma, the EPHA3/7 and ALK overexpression in the FAP-associated medulloblastoma, and the multi-RTK upregulation in the soft tissue neoplasms. This study presents the spatiotemporal evolution of novel neoplastic associations in syndromic medulloblastoma, and discusses the post-radiotherapy risk for secondary malignancies in syndromic pediatric patients, with important implications for the biology, diagnosis, and therapy of these tumors. -9uTLpjCeHFTYhThd81HRB Video Abstract [ABSTRACT FROM AUTHOR]

To retrospectively review the various methods used to treat extra-abdominal desmoid fibromatosis (EDF) at our institution to compare treatment response and complications with those for the emerging option of percutaneous cryoablation therapy. A single-center retrospective review was conducted to identify patients with EDF who underwent some form of treatment for EDF in any combination (including medical therapy, surgery, percutaneous ablation and radiation therapy) at our institution between January 2007 and January 2020. Patients with pathological evidence of EDF and pretreatment and posttreatment images were included. Medical records and imaging data were also reviewed. Treatment response assessment was based on tumor size on follow-up imaging. A total of 41 patients (30 women; mean age, 34 y; range, 18–79 y) were included in the study. The extremities (44%) and back (22%) were the most common locations of EDF. Patients underwent a variety of treatment methods, including medical therapy (31 patients), surgery (24 patients), cryoablation (7 patients), radiation therapy (6 patients), and radiofrequency ablation (4 patients). Reduction in lesion size after at least 3 months of follow-up was most common in patients who underwent surgery alone (5 patients) or cryoablation (4 patients). Among all study patients, there were 10 minor complications and 3 major complications. Complication rates were lowest in patients who underwent cryoablation (no complications). Although further work is needed, the early data in this study offers promising results regarding the clinical application of cryoablation for EDF, which appears safer than radiofrequency ablation and a potentially effective. • Patients who underwent surgery or cryoablation were the most likely to demonstrate a reduction in EDF lesion size. • Complication rates were lowest in patients who underwent cryoablation. • EDF lesions of the back and thorax demonstrated the highest response to treatment overall. [ABSTRACT FROM AUTHOR]

Desmoid tumors are benign, but may have a locally invasive tendency that commonly results in local recurrence. Most occur on the body trunk or extremities, whereas a head and neck desmoid tumor is relatively rare. The efficacy of radiotherapy has been suggested and 50–60 Gy is used for unresectable or recurrent desmoid tumors, but there are few reports of use of particle beam therapy. However, since this tumor occurs more often in younger patients compared to malignant tumors and the prognosis is favorable, there may be an advantage of this therapy. We treated a male patient with a head and neck recurrent desmoid tumor with proton beam therapy (PBT) at a dose of 60 Gy (RBE). This patient underwent surgical resection as initial treatment, but the tumor recurred only six months after surgery, and resection was performed again. After PBT, the tumor gradually shrank and complete remission has been achieved for 10 years without any severe late toxicity. Here, we report the details of this case, with a review of the literature. We suggest that PBT may reduce the incidence of second malignant tumors by reducing the dose exposure around the planning target volume.

Desmoid tumors are rare, aggressive fibroblastic soft tissue tumors. We report a case of a 20-year-old male with recurrence of desmoid tumor of the left shoulder after initial complete resection 3 years prior. Pathology revealed fibromatosis desmoid type. After complete resection of tumor at 17-year-old, no symptoms were reported after 3 years of first resection, when he developed numbness and weakness of the left upper extremity. Magnetic resonance imaging demonstrated an enlarging arteriovenous malformation at the left shoulder with possible recurrence. Excision was performed, and after tissue examination evidence of recurrent fibromatosis desmoid type was found without arteriovenous malformation. Recurrence after complete resection could be as high as 70%. Early recurrence recognition is essential as tumor growth before the infiltration of the aggressive tumor makes the resection more difficult and increases surgical risk of complications.

Abstract Background Surgery is an effective treatment for desmoid fibromatosis, but it may be difficult, depending on the location or local spread of the tumor, and the decision to perform surgery must be made carefully. We herein report a case of desmoid fibromatosis of the chest wall in a young woman suspected of having invasion to the 1st, 2nd and 3rd ribs. Case presentation A 35-year-old woman had been aware of dry cough and right chest pain, so she was referred to our hospital. Chest computed tomography showed a localized pleural tumor mainly at the first rib. Magnetic resonance imaging revealed a 75 × 65 × 27-mm tumor with a smooth surface, with partial contact from the first rib to third rib and partial extension to the 1st intercostal space. The tumor showed growth in the two months after the first visit, so resection was performed. The tumor was completely resected, and adjuvant radiation therapy (50 Gy) was performed for the small margin. The pathological diagnosis was desmoid fibromatosis. The postoperative course has been uneventful, without recurrence at 14 months after surgery. Conclusions In chest wall tumors located ventral of the pulmonary apex, we suggest that a combination of the Grunenwald method and Masaoka anterior approach may be a useful option. In cases where margin is not enough, adjuvant radiation therapy should be considered.

We present a case report of the successful use of thoracic epidural analgesia for the surgical resection of a large recurrent desmoid tumor and forequarter amputation in an adolescent male. Spinal anesthesia has been reported for intra-operative management of desmoid tumor resection, however, there are no reported cases of thoracic epidural analgesia for this tumor. Thoracic epidural should be used with caution in this patient population due to risk of de novo tumor creation but can be useful adjuvant to multi-modal analgesia to decrease post-operative opioid requirement. [ABSTRACT FROM AUTHOR]

Chuanxi Zheng,* Yong Zhou,* Yitian Wang, Yi Luo, Chongqi Tu, Li Min Department of Orthopedics, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, People’s Republic of China*These authors contributed equally to this workCorrespondence: Li MinDepartment of Orthopedics, West China Hospital, Sichuan University, No. 37 Guoxuexiang, Chengdu 610041, People’s Republic of ChinaTel +86 13760311476Fax +86 028 85582944Email minli1204@scu.edu.cnPurpose: Desmoid fibromatosis (DF) is an aggressive fibroblastic neoplasm with a high propensity for local recurrence. Although multiple therapeutic modalities seem effective for DF, the standard systemic treatment for symptomatic and progressive DF remains controversial. As targeted therapy, tyrosine kinase inhibitors have been recently reported to contribute to the treatment of DF. Thus, the purpose of this study was to assess the efficacy and safety of anlotinib, a novel multi-kinase angiogenesis inhibitor, in patients with DF.Patients and Methods: We retrospectively collected the clinical medical records of patients with extremity DF who received anlotinib between January 2019 and January 2020 in our center. Anlotinib was started with a dose of 8 mg daily and adjusted according to the drug-related toxicity. Tumor response was assessed by the Response Evaluation Criteria in Solid Tumors 1.1 criteria. Progression-free survival (PFS) was identified as the primary endpoint and analyzed using the Kaplan–Meier method.Results: In total, 21 (6 male, 15 female) consecutive patients with DF were enrolled. The median medication time was nine months (Q1, Q3: 7.5, 10.5). None of the patients achieved a complete response, but eight (38.1%) patients achieved a partial response and ten patients (47.6%) achieved disease stability. Three (14%) patients developed progressive disease and the 3-, 6-, and 12-month PFS rates were 95.2%, 90.5%, and 84.0%, respectively. The disease control rate was 86.0% (18/21) and the objective response rate was 38.1% (8/21). Moreover, 15/21 (71.4%) patients achieved a reduction in tumor size, accompanied with a decrease in T2-weighted signal intensity on magnetic resonance imaging and clinical benefit.Conclusion: Anlotinib was effective against DF with an acceptable safety profile, and significantly slowed the disease progression. Further, multicenter studies with a longer follow-up time are needed to characterize fully the clinical application of anlotinib in DF.Keywords: desmoid fibromatosis, anlotinib, tyrosine kinase inhibitor, targeted therapy

A 42-year-old female patient with a history of cervicothoracic junction meningioma World Health Organization grade I, resected in early 2011, was admitted to the hospital with intractable headache and lower extremity weakness. Magnetic resonance imaging (MRI) showed an epidural mass compressing the spinal cord at the prior surgical site, which was interpreted as recurrent meningioma. Following surgical resection, histopathological analysis revealed desmoid fibromatosis (desmoid tumor). In retrospect, dynamic contrast-enhanced magnetic resonance imaging performed prior to surgery should have allowed for prospective exclusion of meningioma as the recurrent mass and suggested an alternative diagnosis such as post-traumatic desmoid fibromatosis or the need for biopsy to confirm diagnosis.

BackgroundDesmoid fibromatosis (DF) is a rare clonal proliferation of fibroblasts and myofibroblasts. It develops in the connective tissues and does not metastasize but may infiltrate adjacent structures. Because of the rarity of these tumors and the unpredictable natural history of the disease, well-defined and precise guidelines of the optimal treatment for DF have not been formulated.Case PresentationHere, we present a giant abdominal DF that invaded the right spermatic cord and iliac vessels. The lesion was excised with external iliac artery dissection; however, the vein was sacrificed. The abdominal wall defect was then repaired with a polypropylene mesh. The lesional cells are positive for β-catenin.ConclusionsIn the past decades, there has been a change in the treatment of DF. The “wait and see” policy has been considered initially in most cases. Surgical intervention remains a valid option for symptomatic lesions. The optimal regimes of the tumor should not take the risk of making the patient more symptomatic than the lesion itself.

Desmoid tumors or aggressive fibromatosis are locally aggressive benign tumors. These arise anywhere in the body but are commonly seen in the anterior abdominal wall. The main treatment choices are continuous surveillance, adjuvant chemotherapy, surgery, and postoperative chemotherapy. However, where needs arise, surgery may be done, specifically wide local excision with adequate clearance. In our case report we show a case of a male patient presenting with umbilical hernia and an incidental discovery of a desmoid tumor that was closely proximate to the herniated sac. The plan of action planned were sac excision followed by tumor excision and then anatomical repair, that is, umbilical herniorrhaphy and postoperative chemotherapy., Competing Interests: Human subjects: Consent for treatment and open access publication was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, M et al.)

Following failed retrograde and antegrade ureteric stenting, a 35-year-old male patient underwent an elective boari flap for marked proximal hydroureteronephrosis due to a periureteric mass in the right iliac fossa. Intraoperative vascular surgical assistance was required for control of arterial bleeding due to friable vessel wall. Histopathology demonstrated desmoid fibromatosis.

Abstract Desmoid fibromatosis (DF) is one of the rarest locally aggressive growing benign tumor entities. We present an overview of the literature and a rare clinical case of a 22‐year‐old female patient, who was diagnosed with aggressive DF in the left pharyngeal wall at the age of 4 years old.

Desmoid fibromatosis (DF) is one of the rarest locally aggressive growing benign tumor entities. We present an overview of the literature and a rare clinical case of a 22‐year‐old female patient, who was diagnosed with aggressive DF in the left pharyngeal wall at the age of 4 years old. [ABSTRACT FROM AUTHOR]