Purpose: Because desmoid tumors exhibit an unpredictable clinical course, translational research is crucial to identify the predictive factors of progression in addition to the clinical parameters. The main issue is to detect patients who are at a higher risk of progression. The aim of this work was to identify molecular markers that can predict progression-free survival (PFS).
Experimental Design: Gene-expression screening was conducted on 115 available independent untreated primary desmoid tumors using cDNA microarray. We established a prognostic gene-expression signature composed of 36 genes. To test robustness, we randomly generated 1,000 36-gene signatures and compared their outcome association to our define 36-genes molecular signature and we calculated positive predictive value (PPV) and negative predictive value (NPV).
Results: Multivariate analysis showed that our molecular signature had a significant impact on PFS while no clinical factor had any prognostic value. Among the 1,000 random signatures generated, 56.7% were significant and none was more significant than our 36-gene molecular signature. PPV and NPV were high (75.58% and 81.82%, respectively). Finally, the top two genes downregulated in no-recurrence were FECH and STOML2 and the top gene upregulated in no-recurrence was TRIP6.
Conclusions: By analyzing expression profiles, we have identified a gene-expression signature that is able to predict PFS. This tool may be useful for prospective clinical studies.
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http://dx.doi.org/10.1158/1078-0432.CCR-14-2910 | DOI Listing |
J Clin Gastroenterol
October 2024
Department of Surgery.
Goals: To clarify the characteristics of desmoid tumors in Japanese patients with familial adenomatous polyposis after colectomy.
Background: Few comprehensive reports have been published on desmoid tumors in Asian patients with familial adenomatous polyposis.
Study: This retrospective study included the data of 81 patients with familial adenomatous polyposis who underwent surgery between 1978 and 2021.
Neuromuscul Disord
December 2024
The John Walton Muscular Dystrophy Research Centre (JWMDRC), Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom; Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom; Newcastle University Translational and Clinical Research Institute, Newcastle upon Tyne, United Kingdom.
Desmoid tumours, also known as aggressive fibromatosis, are rare tumours derived from mesenchymal stem cells, accounting for only 0.03 % of all tumours. While 85-90 % of cases are sporadic, desmoid tumours can occasionally be associated with Gardner syndrome (or Familial Adenomatous Polyposis), which is linked to variants in the tumour suppressor gene, APC (adenomatous polyposis coli) gene on chromosome 5.
View Article and Find Full Text PDFRadiol Case Rep
February 2025
Radiology, Medical Fitness/Dubai Academic Health Corporation, Dubai, United Arab Emirates.
Cortical desmoid is an uncommon benign bony lesion that can typically be diagnosed through conventional radiographic methods. However, here we present an atypical case of a 14-year-old male who presented with a history of trauma, and the initial X-ray showed a right femur suspicious bony lesion. Still, the subsequent use of CT and MRI confirmed the diagnosis of cortical desmoid, so conservative management and follow-up imaging was recommended.
View Article and Find Full Text PDFRadiol Case Rep
February 2025
Department of Surgery « A », Ibn Sina Hospital, Mohammed V University, Faculty of Medicine and Pharmacy, Rabat, Morocco.
Desmoid tumors, also known as deep fibromatosis or desmoid-type fibromatosis, represent a rare subset of deep fibromatoses. It is a locally aggressive tumor, with no specific symptoms, and no metastatic potential. We report a case of a 38-year-old male patient with an abdominal mass.
View Article and Find Full Text PDFAnn Surg Oncol
December 2024
Department of Surgery, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
Background: In 2023 and 2024, a wide variety of new studies have been published in the field of soft tissue sarcomas, representing the enormous heterogeneity of sarcoma histotypes, anatomical location, treatment variability, and biological behavior.
Patients And Methods: This article summarizes the, in our view, seven most important publications in the field that will have an impact on the surgical practice and future treatment strategies of our patients.
Results: In the last year, we gained more insight in the genetic background of patients with sarcoma from a large Australian study, which will have an impact on future counseling and screening of our patients.
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