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Medicine Jun 2023The involvement of New York esophageal squamous cell carcinoma-1 (NY-ESO-1) and melanoma-associated antigen A4 (MAGE-A4) in soft-tissue sarcoma pathogenesis has recently...
The involvement of New York esophageal squamous cell carcinoma-1 (NY-ESO-1) and melanoma-associated antigen A4 (MAGE-A4) in soft-tissue sarcoma pathogenesis has recently been reported; however, their involvement in desmoid tumors (DTs) remains unknown. This study aimed to determine the involvement of NY-ESO-1 and MAGE-A4 in DTs. Immunostaining for β-catenin, NY-ESO-1, and MAGE-A4 was performed on DT biopsy specimens harvested at our institution. The positivity rate for each immune component was calculated. In addition, the correlations between the positivity rates for the immune molecules were investigated. The correlation between the positivity rate and age or longest diameter of each immune molecule was also investigated. β-catenin showed staining mainly in the tumor cell nuclei of DTs. Both NY-ESO-1 and MAGE-A4 showed staining in the nucleus, cytoplasm, and infiltrating lymphocytes of DT cells. The mean positive cell rates for β-catenin, NY-ESO-1, and MAGE-A4 were 43.9 ± 21.7, 30 ± 21.6, and 68.9 ± 20.8, respectively. A strong negative correlation was observed between β-catenin and MAGE-A4 positivity rates (r = -0.64). The positivity rates for NY-ESO-1 and MAGE-A4 showed a moderate positive correlation (r = -0.42). A very strong negative correlation was observed between age and the NY-ESO-1 positivity rate (r = -0.72). A weak negative correlation was observed between age and the MAGE-A4 positivity rate (r = -0.28). A medium negative correlation was observed between the longest tumor diameter and NY-ESO-1 positivity (r = -0.37). NY-ESO-1 and MAGE-A4 may be involved in the DT microenvironment. Thus, NY-ESO-1 and MAGE-A4 may be useful in the diagnosis of DT.
Topics: Humans; beta Catenin; Esophageal Neoplasms; Fibromatosis, Aggressive; Esophageal Squamous Cell Carcinoma; Antigens, Neoplasm; Antibodies; Tumor Microenvironment
PubMed: 37266606
DOI: 10.1097/MD.0000000000033908 -
Cancer Dec 2020Desmoid tumors (DTs) are a rare disease of intermediate malignancy characterized histologically by a locally aggressive, monoclonal, fibroblastic proliferation and... (Review)
Review
Desmoid tumors (DTs) are a rare disease of intermediate malignancy characterized histologically by a locally aggressive, monoclonal, fibroblastic proliferation and clinically by a variable and often unpredictable course. For decades, surgical resection has been the standard initial treatment approach; however, more recently, a paradigm shift toward a more conservative treatment strategy has been introduced. More than 5 years ago, The Desmoid Tumor Working Group started a consensus initiative in Europe with the aim of harmonizing the strategy among clinicians and setting up treatment recommendations for patients with DTs. This review summarizes the latest joint, global, evidence-based guideline approach to DT management. Moreover, a number of gray areas in the treatment recommendations are discussed, and possible future perspectives on the treatment armamentarium for patients with DTs are presented.
Topics: Clinical Trials as Topic; Consensus; Evidence-Based Medicine; Fibromatosis, Aggressive; Humans; Practice Guidelines as Topic
PubMed: 33022074
DOI: 10.1002/cncr.33233 -
Clinics (Sao Paulo, Brazil) 2023Familial Adenomatous Polyposis is a complex hereditary disease that exposes the carrier to a great risk of Colorectal Cancer (CRC). After prophylactic surgery,...
OBJECTIVE
Familial Adenomatous Polyposis is a complex hereditary disease that exposes the carrier to a great risk of Colorectal Cancer (CRC). After prophylactic surgery, intra-abdominal desmoid tumors are known to be one the most important cause of death. Therefore, recognition of increased-risk patients and modification of operative strategy may be crucial.
AIM
The objective of this study was to estimate the desmoid tumor risk in relation to various surgical and clinical variables.
METHODS
Patients who had undergone polyposis since 1958 were included in the study. After exclusion criteria were met, those who had developed desmoid tumors were selected to undergo further evaluation.
RESULTS
The study revealed that the risk of developing desmoid tumors was associated with various factors such as sex ratio, colectomy, and reoperations. On the other hand, the type of surgery, family history, and surgical approach did not affect the risk of developing desmoid tumors. The data collected from 146 polyposis patients revealed that 16% had desmoid polyps. The sex ratio was 7:1, and the median age at colectomy was 28.6 years. Family history, multiple abdominal operations, and reoperations were some of the characteristics that were common in desmoid patients.
CONCLUSION
Recognition of clinical (female sex) and surgical (timing of surgery and previous reoperations) data as unfavorable variables associated with greater risk may be useful during the decision-making process.
Topics: Humans; Female; Adult; Fibromatosis, Aggressive; Adenomatous Polyposis Coli; Fibromatosis, Abdominal; Colectomy
PubMed: 36476966
DOI: 10.1016/j.clinsp.2022.100144 -
Journal of Computer Assisted Tomography 2019The purpose of this article is to review the etiopathogenesis, molecular cytogenetics, histopathology, clinical features, and multimodality imaging features of desmoid... (Review)
Review
OBJECTIVE
The purpose of this article is to review the etiopathogenesis, molecular cytogenetics, histopathology, clinical features, and multimodality imaging features of desmoid fibromatosis. Recent advances in the management of desmoid fibromatosis will also be discussed.
CONCLUSIONS
Desmoid fibromatosis is a rare soft tissue neoplasm with a high incidence of local recurrence. Imaging plays an important role in the diagnosis and management of this disease.
Topics: Diagnostic Imaging; Fibromatosis, Aggressive; Humans; Multimodal Imaging; Soft Tissue Neoplasms
PubMed: 30211798
DOI: 10.1097/RCT.0000000000000790 -
Medicine Aug 2022To assess the efficacy and safety of ultrasound (US)-guided high-intensity focused ultrasound (HIFU) ablation for treatment of unresectable and recurrent intra-abdominal...
Management of unresectable and recurrent intra-abdominal desmoid tumors treated with ultrasound-guided high-intensity focused ultrasound: A retrospective single-center study.
To assess the efficacy and safety of ultrasound (US)-guided high-intensity focused ultrasound (HIFU) ablation for treatment of unresectable and recurrent intra-abdominal desmoid tumors. From June 2014 to March 2020, 15 patients with consecutive unresectable and recurrent diseases that pathologically proven to be intra-abdominal desmoid tumors had undergone the treatment of US-guided HIFU ablation. All patients underwent contrast-enhanced magnetic resonance imaging before and after HIFU treatment. Nonperfused volume ratio was used to evaluate the effect of HIFU therapy. Intraprocedural and postprocedural adverse effects and complications are recorded to assess the safety of the therapy. Outcome of HIFU ablation has been investigated through serial contrast-enhanced imaging examinations during follow up. Out of 15 patients 14 of them have successfully completed the whole therapy, 1 patient is ineffective and gives up further treatment. The mean nonperfused volume ratio is 71.1% (95% confidence interval, 3% to 88.2%). During a mean follow up of 29 months (range from 8 to 61 months), the mean tumor volume was reduced by 59% (95% confidence interval, +49% to -100%). No tumor spreads along the treated area in all patients except one. Complications have occurred in 5 patients (33.3%), including bowel rupture (1 case), intra-abdominal abscess (1 case), slight injury to the femoral nerve (1 case), and bone injury (2 cases), the bowel rupture patient underwent surgery; the others have been cured during the follow up. US-guided HIFU ablation is an effective treatment modality for patients suffered from unresectable and recurrent intra-abdominal desmoid tumors.
Topics: Fibromatosis, Abdominal; Fibromatosis, Aggressive; High-Intensity Focused Ultrasound Ablation; Humans; Retrospective Studies; Treatment Outcome; Ultrasonography, Interventional
PubMed: 36042615
DOI: 10.1097/MD.0000000000030201 -
World Journal of Surgical Oncology Feb 2015The clinical features and the pathological changes of desmoid tumors were studied to point out the key factors affecting the recurrence.
BACKGROUND
The clinical features and the pathological changes of desmoid tumors were studied to point out the key factors affecting the recurrence.
METHODS
The clinical data and specimens of 56 patients who underwent desmoid tumor resection from 2003 to 2008 were reviewed. Possible clinical factors related to the postoperative recurrence were analyzed statistically. The specimens round the lesions were studied histopathologically.
RESULTS
The overall recurrence rate was 39.3%. The postoperative recurrence rate of the patients with negative surgical margins and no tumor invasion of the major vessels and nerves was low (P < 0.05). However, the desmoid tumors could destroy the cortical bone and invade the medullary cavity.
CONCLUSIONS
Desmoid tumors were pathologically benign, which could extensively invade tissues around the lesions. The invasion of major vessels and nerves and quality of surgical margins are the key factors for the high postoperative recurrence rate.
Topics: Adolescent; Adult; Aged; Child; China; Female; Fibromatosis, Aggressive; Follow-Up Studies; Humans; Male; Middle Aged; Neoplasm Invasiveness; Neoplasm Recurrence, Local; Neoplasm Staging; Postoperative Complications; Prevalence; Prognosis; Retrospective Studies; Young Adult
PubMed: 25888954
DOI: 10.1186/s12957-015-0450-8 -
Annals of Surgical Oncology Aug 2023In this study, we aimed to describe the clinical features, management, and outcomes of desmoid tumors (DTs) in familial adenomatous polyposis (FAP) patients at a...
OBJECTIVE
In this study, we aimed to describe the clinical features, management, and outcomes of desmoid tumors (DTs) in familial adenomatous polyposis (FAP) patients at a high-volume sarcoma center.
METHODS
Consecutive patients with FAP and DTs were identified from our institutional databases (1985-2021). Patient demographics, treatment, and outcomes were described. Categorical data were compared using Fisher's exact test, and Kaplan-Meier curves were used to estimate progression-free survival (PFS).
RESULTS
Forty-five patients with 67 DTs were identified: 39 mesenteric or retroperitoneal (58.2%), 17 abdominal wall (25.4%), 4 extremity (6%), 4 breast (6%) and 3 back (4.4%). Severe DT symptoms were present in 12 patients (26.7%). Initial treatments per tumor were observation in 30 (44.8%) DTs, chemotherapy in 15 (22.4%) DTs, surgery in 10 (14.9%) DTs, and other systemic therapies in 10 (14.9%) DTs. The majority of DTs remained stable with observation or a single intervention (77.8%). Median PFS was 23.4 years (95% confidence interval 7.6-39.2). In the 12 severely symptomatic patients, four patients required more than two interventions for DT control. At a median follow-up of 6.0 years (range 0.7-35.8 years), 33 (73.3%) patients were alive with disease, 7 (15.6%) were alive without disease, and 5 (11.1%) died of other causes. No patients died of DT-related complications.
CONCLUSIONS
The majority of DTs in FAP patients remained stable with observation or a single intervention. There were no DT-related deaths; however, 12 of 45 patients (26.7%) experienced significant tumor morbidity and required more interventions for disease control. Further studies on quality of life are required.
Topics: Humans; Fibromatosis, Aggressive; Quality of Life; Adenomatous Polyposis Coli; Mesentery
PubMed: 37237094
DOI: 10.1245/s10434-023-13675-1 -
Nature Communications Oct 2022Desmoid fibromatosis (DF) are mesenchymal neoplasms, with potential aggressive course and relevant clinical impact. New systemic therapy modalities are needed in this...
Desmoid fibromatosis (DF) are mesenchymal neoplasms, with potential aggressive course and relevant clinical impact. New systemic therapy modalities are needed in this symptomatic/progressive population. In this multicenter, phase II trial (NCT03275818), patients with symptomatic/progressing DF received three cycles of weekly nab-paclitaxel. Brief pain inventory short form (BPI-SF) was collected at baseline and in every visit. MRI was performed every 3 months. Primary composite endpoint was RECIST 1.1 overall response rate (ORR) and/or clinical response (improvement ≥ 2 points in BPI-SF). If 40% of patients achieved clinical/radiological response, further investigation would be warranted. Toxicity, progression-free survival (PFS), pattern of response and its correlation with clinical best response and BPI, variation of physical function, and analgesic consumption were secondary endpoints. The translational research reported was not a pre-specified secondary outcome. Forty eligible patients started therapy, being 35 radiologically and clinically evaluable. The study achieved its primary endpoint, as 7(20%) patients obtained RECIST partial response, whereas 31(89%) experienced pain reduction of ≥2 points in BPI-SF worst pain. Therapy was well tolerated. With a median follow-up of 30(14-44) months, median 12 and 24-months PFS rates were 91%(CI 95%, 82-100) and 84%(CI 95%, 71-97). For clinical progression, 12 and 24-months PFS rates were 85% (CI 95%, 73-97) and 74% (CI 95%, 58-90) respectively. Short course of nab-paclitaxel is active, safe and achieves quick and durable responses in progressing/symptomatic DF patients.
Topics: Humans; Fibromatosis, Aggressive; Paclitaxel; Albumins; Pain
PubMed: 36271011
DOI: 10.1038/s41467-022-33975-6 -
Ear, Nose, & Throat Journal Nov 2023Fibromatosis or desmoid tumors are rare benign fibroblastic lesions that are rarely present in the head and neck regions. When they do occur in these regions, however,...
Fibromatosis or desmoid tumors are rare benign fibroblastic lesions that are rarely present in the head and neck regions. When they do occur in these regions, however, they tend to be aggressive toward the surrounding tissue and be associated with heavy morbidity and mortality. We report the case of a 26-year-old Tunisian female who presented with acute obstructive dyspnea and a 3-week history of cervical swelling. The swelling was initially only located in the left submandibular area, it then gradually extended to all the anterior cervical supra- and infrahyoid regions causing a clinical presentation resembling that of obstructive dyspnea, the patient was admitted, and an emergency tracheotomy was performed. Tissue samples were taken, pathological analysis revealed an aggressive case of fibromatosis. The patient was treated with corticosteroids and antihormonal therapy, the fibrous mass shrunk considerably allowing the removal of the tracheotomy cannula, no tumor recurrence was noted during the observation period. Due to the rarity of this disease, especially in the cervical region, there are no therapeutic guidelines available.
PubMed: 37949917
DOI: 10.1177/01455613231210392 -
Familial Cancer Jul 2017Gastric cancer is not a recognised extra-colonic manifestation of FAP, except in countries with a high prevalence of gastric cancer. Data regarding gastric adenomas in...
Gastric cancer is not a recognised extra-colonic manifestation of FAP, except in countries with a high prevalence of gastric cancer. Data regarding gastric adenomas in FAP are sparse. The aim of this study was to review the clinical characteristics of gastric tumours occurring within an FAP population from the largest European polyposis registry. All patients that developed a gastric adenoma or carcinoma were identified from a prospectively maintained registry database. The primary outcome measure was the occurrence of gastric adenoma or adenocarcinoma. Secondary outcomes included APC mutation, tumour stage, management and survival. Eight patients developed gastric cancer and 21 an adenoma (median age 52 and 44 years, respectively). Regular oesophagogastroduodenoscopy surveillance was performed in 6/8 patients who developed cancer. Half were advanced T3/4 tumours and 6/8 had nodal or metastatic spread at diagnosis. All cancer cases died within a median of 13.5 months from diagnosis. Gastric adenomas were evenly distributed: 11/21 (52%) in the distal and 10/21 (48%) proximal stomach, whereas 5/8 (63%) cancers were located proximally. An association between gastric tumour and desmoid development was observed; 7/8 (88%) cancer and 11/21 (52%) adenoma cases had a personal or family history of desmoid. It would appear from this small, retrospective study that gastric cancer is not a prominent extra-colonic feature of FAP in the Western world. It seems to present at an advanced stage with a poor prognosis. There may be an association between gastric tumour and desmoid occurrence but a large multicentre cohort is necessary to investigate this further.
Topics: Adenocarcinoma; Adenoma; Adenomatous Polyposis Coli; Adult; Aged; Female; Fibromatosis, Aggressive; Humans; Male; Middle Aged; Registries; Retrospective Studies; Stomach Neoplasms; Young Adult
PubMed: 28271232
DOI: 10.1007/s10689-017-9966-0