Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Previous studies have not clearly identified a prognostic factor for desmoid tumours (DT). Whole-exome sequencing (WES) and/or RNA sequencing (RNA-seq) were performed in 64 cases of DT to investigate the molecular profiles in combination with the clinicopathological characteristics. CTNNB1 mutations with specific hotspots were identified in 56 cases (87.5%). A copy number loss in chromosome 6 (chr6) was identified in 14 cases (21.9%). Clustering based on the mRNA expression profiles was predictive of the patients' prognoses. The risk score generated by the expression of a three-gene set (IFI6, LGMN, and CKLF) was a strong prognostic marker for recurrence-free survival (RFS) in our cohort. In risk groups stratified by the expression of IFI6, the hazard ratio for recurrence-free survival in the high-risk group relative to the low-risk group was 12.12 (95% confidence interval: 1.56-94.2; p = 8.0 × 10). In conclusion, CTNNB1 mutations and a chr6 copy number loss are likely the causative mutations underlying the tumorigenesis of DT while the gene expression profiles may help to differentiate patients who would be good candidates for wait-and-see management and those who might benefit from additional systemic or radiation therapies.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.ejca.2020.12.001 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Case report of chest wall reconstruction using biological matrix following resection of a sternal desmoid tumor diagnosed in pregnancy.
J Surg Case Rep
August 2025
Department of Thoracic Surgery, Mater Misericordiae University Hospital Dublin, Eccles St, D07 R2WY, Ireland.
Desmoid tumors of the chest wall are rare and pose specific challenges in diagnosis, resection and reconstruction. While not known to have potential for metastasis, they have a high risk of recurrence following resection, even with negative margins. Adequate resection has the potential to leave large thoracic defects, the reconstruction of which are technically challenging and often require a multi-disciplinary surgical skill set.
View Article and Find Full Text PDFRepurposing nirogacestat, a gamma secretase enzyme inhibitor in desmoid tumors.
Future Oncol
September 2025
Sarcoma and Early Drug Development, Memorial Sloan Kettering Cancer Center and Weill Cornell Medical College, New York, NY, USA.
The gamma secretase (GS) enzyme controls cell-cell adhesion, neural stem cell proliferation, neo-angiogenesis, spinal maturation, and metabolism of amyloid precursor proteins (APP). Pathological production of abnormal amyloid-beta isoforms and senile plaques serves as the basis for pathogenesis of Alzheimer's disease (AD). GS enzyme inhibitors such as semagacestat and avagacestat were explored in AD but the studies were paused because of adverse events attributed to their influence on the Notch pathway.
View Article and Find Full Text PDFDesmoid-Type Fibromatosis Masquerading as Disease Progression in Metastatic Breast Cancer in a Patient on Ribociclib Therapy: A Case Report.
J Breast Cancer
August 2025
Department of Surgery, Jeonbuk National University Medical School, Jeonju, Korea.
Ribociclib combined with an aromatase inhibitor (AI) is widely used as first-line therapy for hormone receptor (HR)-positive, human epidermal growth factor receptor-2 (HER-2)-negative metastatic breast cancer. Desmoid-type fibromatosis (DTF) is a rare, locally invasive soft-tissue tumor that accounts for only 0.2% of all breast neoplasms and can mimic malignancy upon imaging.
View Article and Find Full Text PDFDesmoid tumor causing large bowel obstruction: an extremely rare diagnosis with an innovative treatment approach.
J Surg Case Rep
August 2025
Colorectal Surgery Unit, General Surgery Department, Hamad Medical Corporation, Doha, Qatar.
Desmoid tumors are rare, benign, slow-growing, fibroblastic neoplasms that originate from musculoaponeurotic structures throughout the body. Desmoid tumors originating from the abdominal wall or retroperitoneum are extraintestinal lesions that can rarely infiltrate the small bowel or stomach, let alone compress the colon, which is an extraordinary incident leading to mechanical bowel obstruction. Here, we present a rare case of large bowel obstruction caused by a desmoid tumor originating mostly from the abdominal wall that invaded the splenic flexure and stomach in a patient with no history of familial adenomatous polyposis or prior surgical procedures.
View Article and Find Full Text PDFThematic Analysis of Clinician Documentation Surrounding Treatment Discussions and Decision-Making in Patients With Desmoid Tumors.
Cancer Med
August 2025
Division of Oncology, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA.
Background: Desmoid tumors are benign tumors without metastatic potential. While progression is rarely life-threatening, it is often life-affecting with significant morbidity. The rarity of desmoid tumors and the inability to accurately predict their natural history lead to challenges in developing treatment algorithms or formulaic discussions to address treatment options with patients.
View Article and Find Full Text PDF