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International Journal of Oral and... Apr 2024Desmoid tumors (DTs) are rare benign neoplasms but cause significant mortality due to their locally infiltrative nature and propensity to recur. Most DTs occur in the...
Desmoid tumors (DTs) are rare benign neoplasms but cause significant mortality due to their locally infiltrative nature and propensity to recur. Most DTs occur in the extremities and trunk. Head and neck DTs are uncommon but can have a significant impact on a patient's facial appearance. However, there is limited information available about the diagnosis and treatment for multiple DTs located in head and neck. We report the first case of multiple maxillofacial DTs in a 14-year-old boy. He had painless submandibular masses for three months and MRI imaging reveals abnormal high signals on the submandibular and bilateral zygomatic regions. Considering facial aesthetics, via intraoral incision we obtained a biopsy from the largest mass. Pathological examination confirmed a diagnosis of DT. We selected the wait-and-see strategy and clinically monitored the rest of the masses. During the subsequent 1-year follow-up, the masses were stagnant and appeared to involute. According to the development and outcome of this case, a conservative treatment for craniofacial DTs is suggested; however, greater clarity concerning management and prognosis could derive from prospective study of a larger patient cohort in the future.
PubMed: 38693024
DOI: 10.1016/j.ijom.2024.04.004 -
Cureus Mar 2024Desmoid fibromatosis is an uncommon soft tissue tumor that is locally aggressive and can result in both pain and limited range of motion (ROM). The rehabilitation...
Desmoid fibromatosis is an uncommon soft tissue tumor that is locally aggressive and can result in both pain and limited range of motion (ROM). The rehabilitation protocol is designed to promote optimal recovery and functional outcomes by following a phased approach. Initially, the focus is on managing pain and performing passive ROM exercises immediately after surgery. As the weeks progress, the exercises transition to active-assisted and then active ROM exercises. Additionally, strengthening exercises, manual therapy techniques, and functional training are incorporated to improve muscle strength, flexibility, and coordination. The goal of the rehabilitation journey is to ensure a safe return to daily activities while closely monitoring for any signs of recurrence or functional deficits. This comprehensive approach highlights the importance of collaboration between surgical teams, rehabilitation specialists, and patients in order to achieve successful outcomes.
PubMed: 38681465
DOI: 10.7759/cureus.57098 -
Journal of Plastic, Reconstructive &... Jun 2024We have recently described circumferential nerve involvement of neuromuscular choristoma associated with desmoid-type fibromatosis (NMC-DTF) in cases involving the... (Review)
Review
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.
Topics: Humans; Fibromatosis, Aggressive; Magnetic Resonance Imaging; Female; Choristoma; Brachial Plexus; Male; Adult; Middle Aged
PubMed: 38678814
DOI: 10.1016/j.bjps.2024.04.009 -
Case Reports in Gastroenterology 2024Mesenteric fibromatosis (intra-abdominal desmoid tumor) is rare, with only a few cases reported in the literature. Clinical symptoms range from asymptomatic, nausea,...
INTRODUCTION
Mesenteric fibromatosis (intra-abdominal desmoid tumor) is rare, with only a few cases reported in the literature. Clinical symptoms range from asymptomatic, nausea, early satiety, abdominal pain, and gastrointestinal bleeding. Although histologically benign, such a tumor may become locally invasive, and aggressive forms contribute to significant morbidity and mortality.
CASE PRESENTATION
We report the case of a 52-year-old West African male with a 1-year history of intermittent hematochezia and intermittent bloating. Colonoscopy revealed a 4-mm rectal polyp and internal hemorrhoids. Esophagogastroduodenoscopy revealed a severe duodenal stricture 4-5 cm distal to the ampulla. Further work-up with contrast-enhanced computed tomography of the abdomen and pelvis revealed a 5.0 × 3.7 × 4.3-cm mass within the mesentery, encasing the distal portion of the duodenum. Exploratory laparotomy was performed, and the mass was excised from the jejunum. Histopathology findings and immunohistochemical analysis revealed the diagnosis to be mesenteric fibromatosis (desmoid tumor), positive for nuclear β-catenin and SMA, and negative expression of STAT6, desmin, caldesmon, pan-cytokeratin, or c-KIT. The Ki67 index is <1%.
CONCLUSION
This case report highlights the diagnostic challenges of mesenteric fibromatosis due to its nonspecific clinical presentation. Recognizing uncommon presentations of mesenteric fibromatosis and risk factors aids in early diagnosis, management, and treatment. Importantly, this also aids in the prevention of complications such as intestinal obstruction, bowel ischemia, and fistula formation.
PubMed: 38645406
DOI: 10.1159/000538489 -
Cancer Treatment Reviews May 2024Angiosarcoma (AS) represents a rare and aggressive vascular sarcoma, posing distinct challenges in clinical management compared to other sarcomas. While the current...
Angiosarcoma (AS) represents a rare and aggressive vascular sarcoma, posing distinct challenges in clinical management compared to other sarcomas. While the current European Society of Medical Oncology (ESMO) clinical practice guidelines for sarcoma treatment are applicable to AS, its unique aggressiveness and diverse tumor presentations necessitate dedicated and detailed clinical recommendations, which are currently lacking. Notably, considerations regarding surgical extent, radiation therapy (RT), and neoadjuvant/adjuvant chemotherapy vary significantly in localized disease, depending on each different site of onset. Indeed, AS are one of the sarcoma types most sensitive to cytotoxic chemotherapy. Despite this, uncertainties persist regarding optimal management across different clinical presentations, highlighting the need for further investigation through clinical trials. The Italian Sarcoma Group (ISG) organized a consensus meeting on April 1st, 2023, in Castel San Pietro, Italy, bringing together Italian sarcoma experts from several disciplines and patient representatives from "Sofia nel Cuore Onlus" and the ISG patient advocacy working group. The objective was to develop specific clinical recommendations for managing localized AS within the existing framework of sarcoma clinical practice guidelines, accounting for potential practice variations among ISG institutions. The aim was to try to standardize and harmonize clinical practices, or at least highlight the open questions in the local management of the disease, to define the best evidence-based practice for the optimal approach of localized AS and generate the recommendations presented herein.
Topics: Humans; Consensus; Hemangiosarcoma; Italy; Practice Guidelines as Topic; Sarcoma
PubMed: 38604052
DOI: 10.1016/j.ctrv.2024.102722 -
Clinical Nuclear Medicine Jul 2024Aggressive fibromatosis is a relatively rare disease. We describe 68 Ga-FAPI-04 PET/CT findings in a case of histologically proved mesenteric aggressive fibromatosis. 68...
Aggressive fibromatosis is a relatively rare disease. We describe 68 Ga-FAPI-04 PET/CT findings in a case of histologically proved mesenteric aggressive fibromatosis. 68 Ga-FAPI-04 PET/CT revealed a mass in the mesentery with increased FAPI activity. This case indicates that FAPI PET may be useful for evaluation of aggressive fibromatosis.
Topics: Humans; Positron Emission Tomography Computed Tomography; Mesentery; Fibromatosis, Aggressive; Gallium Radioisotopes; Male; Female; Tomography, X-Ray Computed; Middle Aged; Multimodal Imaging; Adult
PubMed: 38598559
DOI: 10.1097/RLU.0000000000005219 -
The British Journal of Radiology Apr 2024To assess the safety and efficacy of percutaneous cryoablation (CA) of soft-tissue tumors (desmoid tumors (DT), vascular malformations (VM), and abdominal wall...
OBJECTIVES
To assess the safety and efficacy of percutaneous cryoablation (CA) of soft-tissue tumors (desmoid tumors (DT), vascular malformations (VM), and abdominal wall endometriosis (AWE)).
METHODS
This systematic review of studies published before January 2024 encompassed a detailed analysis of CA techniques and technical aspects for the treatment of soft-tissue tumors. Data concerning CA efficacy, complication rates, and other relevant metrics was extracted and included for analysis.
RESULTS
The analysis included 27 studies totaling 554 CA procedures. For DT (13 studies, 393 sessions), CA showed an average pain reduction of 79 ± 17% (range: 57-100) and a lesion volume decrease of 71.5 ± 9.8% (range: 44-97). VM (4 studies, 58 sessions) had a 100% technical success rate and an average pain reduction of 72 ± 25% (range: 63-85). The average pain reduction for AWE (6 studies, 103 sessions) was 82 ± 13% (range: 62-100). Overall, the complication rate for CA was low, with minor adverse events (AE) in about 20% of patients and major events in less than 5% of patients.
CONCLUSION
Showing substantial efficacy in pain reduction and lesion volume decrease, as well as low incidence of severe AE, CA presents as a highly effective and safe alternative for the treatment of soft-tissue tumors.
ADVANCES IN KNOWLEDGE
CA is effective and safe in treating soft-tissue tumors, particularly DT, VM, and AWE.
PubMed: 38588564
DOI: 10.1093/bjr/tqae075 -
Cureus Apr 2024Desmoid tumors (DTs) are rare, aggressive malignancies developing from clonal fibroblastic proliferation originating from soft tissues. Despite their low metastatic...
Desmoid tumors (DTs) are rare, aggressive malignancies developing from clonal fibroblastic proliferation originating from soft tissues. Despite their low metastatic potential, their invasiveness towards neighboring organs and a high recurrence rate contribute significantly to morbidity and mortality, thereby impacting the quality of life of patients. Several therapeutic options are available, but standardized protocols are lacking. In this study, we reviewed 14 cases of DT retrospectively over a period of 15 years, from September 2008 to December 2023. The most prevalent tumor locations were in the extremities, and the majority of patients were female. We identified risk factors in two patients, those being surgical trauma and familial adenomatous polyposis (FAP). Half of the patients underwent surgery for DT, and two received salvage radiotherapy. Systemic therapy was used in the first and second lines and comprised of chemotherapy, endocrine therapy, and non-steroidal anti-inflammatory drugs (NSAI). Active surveillance was proposed in three patients. This is the first retrospective study to assess the characteristics of DT in Moroccan patients in a tertiary care setting. It aims to shed light on the challenges faced in treating these rare tumors in the context of a lack of therapeutic standardization.
PubMed: 38586227
DOI: 10.7759/cureus.57768 -
Journal of Surgical Case Reports Jan 2024Desmoid fibromatosis (DF) is a connective tissue tumor that grows aggressively in musculoaponeurotic tissues. It has an annual incidence rate of 2-4/million and is...
Desmoid fibromatosis (DF) is a connective tissue tumor that grows aggressively in musculoaponeurotic tissues. It has an annual incidence rate of 2-4/million and is commonly seen in individuals aged 15 to 60 years, with female predominance. While it can occur in any body part, it is commonly found in the extremities, abdominal wall, and abdominal mesentery. But it rarely develops in the chest wall. The cause of the tumor is unknown. However, trauma to the tumor site has been identified in 25% of known cases. The primary treatment is surgical resection. Local recurrence after surgical excision is common. Our study highlights the case of a 12-year-old male patient diagnosed with a desmoid tumor on the chest wall 2 years ago, at the age of 10 years, after mild trauma. The tumor was successfully managed with surgery without radiotherapy treatment and no recurrence was observed in the last 2 years.
PubMed: 38576542
DOI: 10.1093/jscr/rjae007 -
RAD51C and MYST3 Mutations in a Case of Desmoid-Type Fibromatosis With No Mutation in CTNNB1 or APC.Cureus Mar 2024Most cases of desmoid-type fibromatosis (DTF) exhibit a mutation in APC or CTNNB1. We report a case of mesenteric DTF in which no mutation in APC or CTNNB1 was found,...
Most cases of desmoid-type fibromatosis (DTF) exhibit a mutation in APC or CTNNB1. We report a case of mesenteric DTF in which no mutation in APC or CTNNB1 was found, but a germline variant of uncertain significance (VUS) in RAD51C and a subclonal mutation in MYST3 were identified. Whether these genetic changes are important in DTF in this case, or whether genetically conventional DTF cells were present at a density below detection is unknown; it will be of interest to see results in further studies of wild-type APC/CTNNB1 cases.
PubMed: 38571839
DOI: 10.7759/cureus.55496