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Journal of Vascular and Interventional... Sep 2023To determine the risk factors for local of adult patients treated for desmoid tumors by cryoablation.
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.
Topics: Adult; Male; Humans; Female; Fibromatosis, Aggressive; Retrospective Studies; Prognosis; Cryosurgery; Neoplasm Recurrence, Local; Treatment Outcome
PubMed: 37182669
DOI: 10.1016/j.jvir.2023.05.012 -
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 -
Cancer Jan 2024
Topics: Humans; Fibromatosis, Aggressive; Wounds and Injuries
PubMed: 37897628
DOI: 10.1002/cncr.35079 -
The Journal of Surgical Research Sep 2016Surgical resection of desmoid tumors has traditionally been the mainstay of therapy, but this is a potentially morbid approach with high rates of recurrence. Given...
BACKGROUND
Surgical resection of desmoid tumors has traditionally been the mainstay of therapy, but this is a potentially morbid approach with high rates of recurrence. Given increasing reports of active surveillance in this disease, we sought to evaluate our experience with conservative management hypothesizing this would be an effective strategy.
MATERIALS AND METHODS
Using a prospectively maintained database of sarcoma patients from 2008 to 2015, we identified 47 patients with a diagnosis of desmoid tumor from all anatomic sites. Data points were abstracted on clinical and pathologic factors, disease stability or progression, and follow-up time. Main outcome measurements were tumor recurrence after surgical resection versus tumor progression with conservative management.
RESULTS
In our cohort, 20 patients were managed with surveillance, 24 patients with surgery, and three patients with other approaches. Clinical and tumor characteristics between treatment groups were not significantly different. With a median follow-up of 35.7 mo, there was one complete regression, five partial regressions, and 13 stable diseases among the surveillance group. Only one patient under observation progressed, crossing over to surgical resection. Among 24 patients managed with surgery, 13 patients developed local recurrence. Kaplan-Meier analysis revealed a statistically superior progression-free survival in the surveillance group (P = 0.001).
CONCLUSIONS
This retrospective analysis adds to the growing body of evidence that observation of desmoid tumors is safe and effective with high rates of stable disease. These data further support an initial conservative approach to desmoid tumors that may spare patients the morbidity and risk of recurrence that accompanies potentially extensive operations.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Female; Fibromatosis, Aggressive; Humans; Male; Middle Aged; Retrospective Studies; Watchful Waiting; Young Adult
PubMed: 27621007
DOI: 10.1016/j.jss.2016.06.028 -
European Journal of Radiology Nov 2015To describe the imaging characteristics of superficial desmoid tumors using magnetic resonance imaging (MRI) and high-resolution sonography (HRUS).
OBJECTIVES
To describe the imaging characteristics of superficial desmoid tumors using magnetic resonance imaging (MRI) and high-resolution sonography (HRUS).
METHODS
We retrospectively examined 18 patients (12 females and 6 males) with histologically proven superficial desmoids. Fourteen patients received MRI examinations, while 12 patients were examined with HRUS. The lesions were assessed with regard to location, muscular fascia involvement, and spread into the subcutaneous fatty tissue septa, adjacent muscle, and bone. In addition, size, shape, signal intensity/echogenicity relative to muscle, amount of collagen components, Doppler vascularity on HRUS and the degree of contrast enhancement in MRI were evaluated.
RESULTS
Altogether there were 20 subcutaneous lesions: six involved the chest wall and the breasts, five the hip, four each the shoulder and the flank, and one the abdominal wall. All but three lesions showed a stellar-type configuration with multiple irregular sun-burst-like extensions along the fascial planes and septa of the subcutaneous fat tissue. The extensions spread away from the main tumor focus, and in nine lesions, these extensions reached the cutis. The remaining three lesions had a spindle shape and also presented extensions along the fascial planes. Another imaging feature in all lesions was the presence of variable amounts of collagen components, with typical low signal on MRI and/or fibrillar hyperechoic appearance in HRUS.
CONCLUSION
The distinctive imaging features of collagen components associated with sun-burst-like extensions in our sample of superficial desmoids are valuable diagnostic clues in the challenging non-invasive differential diagnosis of these tumors.
Topics: Abdominal Wall; Adolescent; Adult; Breast; Diagnosis, Differential; Female; Fibromatosis, Aggressive; Hip; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Reproducibility of Results; Retrospective Studies; Shoulder; Thoracic Wall; Ultrasonography, Mammary; Young Adult
PubMed: 26358371
DOI: 10.1016/j.ejrad.2015.08.012 -
Cancer Research and Treatment Oct 2022Desmoid tumor, also known as aggressive fibromatosis, is well-characterized by abnormal Wnt/β-catenin signaling. Various therapeutic options, including imatinib, are...
Whole-Genome and Transcriptome Sequencing Identified NOTCH2 and HES1 as Potential Markers of Response to Imatinib in Desmoid Tumor (Aggressive Fibromatosis): A Phase II Trial Study.
PURPOSE
Desmoid tumor, also known as aggressive fibromatosis, is well-characterized by abnormal Wnt/β-catenin signaling. Various therapeutic options, including imatinib, are available to treat desmoid tumor. However, the molecular mechanism of why imatinib works remains unclear. Here, we describe potential roles of NOTCH2 and HES1 in clinical response to imatinib at genome and transcriptome levels.
MATERIALS AND METHODS
We identified somatic mutations in coding and noncoding regions via whole-genome sequencing. To validate the genetic interaction with expression level in desmoid-tumor condition, we utilized large-scale whole-genome sequencing and transcriptome datasets from the Pan-Cancer Analysis of Whole Genomes project. RNA-sequencing was performed using prospective and retrospective cohort samples to evaluate the expressional relevance with clinical response.
RESULTS
Among 20 patients, four (20%) had a partial response and 14 (66.7%) had stable disease, 11 of which continued for ≥ 1 year. With gene-wise functional analyses, we detected a significant correlation between recurrent NOTCH2 noncoding mutations and clinical response to imatinib. Based on Pan-Cancer Analysis of Whole Genomes data analyses, NOTCH2 mutations affect expression levels particularly in the presence of CTNNB1 missense mutations. By analyzing RNA-sequencing with additional desmoid tumor samples, we found that NOTCH2 expression was significantly correlated with HES1 expression. Interestingly, NOTCH2 had no statistical power to discriminate between responders and non-responders. Instead, HES1 was differentially expressed with statistical significance between responders and non-responders.
CONCLUSION
Imatinib was effective and well tolerated for advanced desmoid tumor treatment. Our results show that HES1, regulated by NOTCH2, as an indicator of sensitivity to imatinib, and an important therapeutic consideration for desmoid tumor.
Topics: Fibromatosis, Aggressive; Humans; Imatinib Mesylate; Mutation; Prospective Studies; RNA; Receptor, Notch2; Retrospective Studies; Transcription Factor HES-1; Transcriptome; beta Catenin
PubMed: 35038826
DOI: 10.4143/crt.2021.1194 -
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 -
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 -
Korean Journal of Radiology Jun 2021To demonstrate the feasibility of percutaneous microwave ablation in desmoid fibromatosis with respect to tumor volume control and improvement in the quality of life.
OBJECTIVE
To demonstrate the feasibility of percutaneous microwave ablation in desmoid fibromatosis with respect to tumor volume control and improvement in the quality of life.
MATERIALS AND METHODS
Twelve microwave ablations were performed in 9 patients with a histological diagnosis of desmoid fibromatosis between January 2010 and January 2019. The study population included 6 female and 3 male, with an age range of 21-76 years (mean = 46.6 years; standard deviation [SD] = 19.3 years). The mean major axis of the tumors was 10.9 cm (SD = 5.2 cm) and mean lesion volume was 212.7 cm³ (SD = 213 cm³). Their anatomical distribution was as follows: 3 lesions in the thigh, 2 in the gluteus, 2 in the leg and 2 in the periscapular region. We evaluated the reduction in tumor volume and improvement in the quality of life based on the Eastern Cooperative Oncology Group (ECOG) scale.
RESULTS
An average tumor volume reduction of 70.4% (SD = 24.9) was achieved, while the quality of life (ECOG scale) improved in 88.9% of patients.
CONCLUSION
Percutaneous microwave ablation may potentially be a safe, effective, and promising technique for controlling tumor volume and improving the quality of life in patients with desmoid fibromatosis.
Topics: Adult; Aged; Female; Fibromatosis, Aggressive; Humans; Male; Microwaves; Middle Aged; Quality of Life; Radiofrequency Ablation; Tumor Burden; Young Adult
PubMed: 33938645
DOI: 10.3348/kjr.2020.0768 -
European Journal of Surgical Oncology :... Jul 2016Extra abdominal desmoid fibromatosis is a complex condition with many recognised treatments including active observation, hormonal therapy, chemotherapy, radiotherapy... (Review)
Review
Extra abdominal desmoid fibromatosis is a complex condition with many recognised treatments including active observation, hormonal therapy, chemotherapy, radiotherapy and surgical resection. There is large variation in the natural history of individual desmoid tumours, with some cases progressing aggressively and others regressing spontaneously when observed alone. This combined with an absence of accurate clinical predictors of a desmoid tumour's behaviour has led to difficulties in identifying which patients would benefit most from aggressive treatment, and which could be adequately managed with a policy of active observation alone. This review explores the aetiology and common presentation of extra-abdominal desmoid fibromatosis including the condition's histopathological, clinical and radiological characteristics. The current evidence for potential predictors of desmoid tumour behaviour is also reviewed, along with the indications and evidence for the multitude of treatments available. We also summarise the published guidelines that are currently available for oncologists and surgeons managing extra-abdominal desmoid fibromatosis, and highlight some of the unanswered questions that need to be addressed to optimise the management of this condition.
Topics: Antineoplastic Combined Chemotherapy Protocols; Biomarkers, Tumor; Biopsy, Needle; Chromosomes, Human, Pair 8; Clinical Trials as Topic; Disease Management; Fibroma; Fibromatosis, Aggressive; Humans; Molecular Targeted Therapy; Mutation; Patient Care Team; Population Surveillance; Practice Guidelines as Topic; Prognosis; Risk Factors; Trisomy; beta Catenin
PubMed: 26965303
DOI: 10.1016/j.ejso.2016.02.012