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Abdominal and intra-abdominal fibromatoses: Outcomes over time.
Am J Clin Pathol
January 2025
Department of Pathology and Laboratory Medicine, University of Miami Miller School of Medicine and Jackson Memorial Hospital, Miami, FL, US.
Objectives: Abdominal wall and intra-abdominal fibromatoses are locally aggressive, nonmetastasizing neoplasms. Surgery has been the mainstay of local control, but new forms of therapy have been developed that may influence the clinical course and morbidity. We studied the clinical features and outcomes of patients with abdominal and intra-abdominal fibromatoses over time.
View Article and Find Full Text PDFDesmoid tumour: a rare cause of congenital unilateral calf enlargement mimicking calf hypertrophy.
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 PDFSuperficial fibromas with CTNNB1 mutation.
Genes Chromosomes Cancer
May 2024
Gerhard Domagk Institute of Pathology, University Hospital Münster, Münster, Germany.
Superficial fibromas are a group of mesenchymal spindle cell lesions with pathomorphological heterogeneity and diverse molecular backgrounds. In part, they may be indicators of an underlying syndrome. Among the best-known entities of superficial fibromas is Gardner fibroma, a plaque-like benign tumor, which is associated with APC germline mutations and occurs in patients with familial adenomatosis polyposis (Gardner syndrome).
View Article and Find Full Text PDFUtility of LEF1 to differentiate desmoid fibromatosis from its histologic mimics.
Virchows Arch
May 2024
Department of Pathology, Massachusetts General Hospital and Harvard Medical School, WRN2, 55 Fruit St, Boston, MA, 02114, USA.
Diagnosis of desmoid-type fibromatosis (DF) may be challenging on biopsy due to morphologic overlap with reactive fibrosis (scar) and other uniform spindle cell neoplasms. Evaluation of nuclear β-catenin, a surrogate of Wnt pathway activation, is often difficult in DF due to weak nuclear expression and high background membranous/cytoplasmic staining. Lymphoid enhancer-factor 1 (LEF1) is a recently characterized effector partner of β-catenin which activates the transcription of target genes.
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