Objectives: Fibromatosis of the breast is an uncommon neoplasm with potential for local recurrence. Treatment has traditionally been surgical excision with current trends toward conservative management. Given the option of observation after diagnosis by core needle biopsy (CNB), we sought to evaluate the accuracy of CNB for diagnosing fibromatosis.
Methods: We identified a total of 31 cases in which fibromatosis had been diagnosed or included in the differential diagnosis on a CNB, an excision, or both. Morphology and immunohistochemical results were reviewed.
Results: Aberrant nuclear immunoreactivity for β-catenin and absent staining for CD34 were the most useful studies to diagnose fibromatosis, and one or both were performed in 21 (68%) cases. High molecular weight cytokeratins and p63 were helpful to exclude spindle cell carcinoma. Of 26 cases confirmed as fibromatosis on excision, 22 (85%) were diagnosed as fibromatosis or fibromatosis was favored in the differential diagnosis on CNB. More frequent use of immunohistochemistry would likely have resulted in a greater number of definitive diagnoses. Fibromatosis was rarely mistaken for other nonmalignant stromal lesions, with no cases misdiagnosed as carcinoma.
Conclusions: CNB can be an accurate method of diagnosing fibromatosis, allowing observation for a select group of patients.
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http://dx.doi.org/10.1093/ajcp/aqx065 | DOI Listing |
JACC Case Rep
December 2024
Medical and Surgical unit of Congenital and Paediatric Cardiology, Reference Centre for Complex Congenital Heart Defects-M3C, University Hospital Necker-Enfants Malades, Paris, France.
Cardiac fibroma is the second most common childhood cardiac tumor. Coronary arteries are typically unaffected. A 5-month-old infant received a diagnosis of giant cardiac fibroma with coronary involvement.
View Article and Find Full Text PDFClin Adv Periodontics
January 2025
Dentistry School, Federal University of Minas Gerais, Belo Horizonte, Brazil.
Background: Hereditary gingival fibromatosis (HGF) is one of the categories of non-plaque-induced gingival diseases of genetic origin. Current studies show high genetic heterogeneity and suggest that not all forms of HGF are the same and that more than one biological mechanism may result in gingival growth. This report presents a case of syndromic HGF with generalized and complex clinical manifestations associated with other conditions such as body hypertrichosis and hearing deficit.
View Article and Find Full Text PDFCureus
December 2024
Orthopedics and Traumatology, Ondokuz Mayis University, Samsun, TUR.
Jaffe-Campanacci syndrome (JCS) is a rare disorder characterized by multiple non-ossifying fibromas (NOFs), café-au-lait spots, and other features such as mental retardation and cryptorchidism. It is often clinically and genetically similar to neurofibromatosis type 1 (NF1), complicating diagnosis. This report presents a 17-year-old male with right knee pain, café-au-lait spots, and axillary freckling.
View Article and Find Full Text PDFJAAD Case Rep
January 2025
Department of Dermatology, University of California San Francisco, San Francisco, California.
Ther Adv Med Oncol
January 2025
Department of Medical Oncology, Sarcoma and Bone Tumors Reference Center, A.C. Camargo Cancer Center, R. Prof. Antônio Prudente, 211, São Paulo, SP 01509-010, Brazil.
Introduction: Desmoid tumors are soft-tissue neoplasms that can have profound impacts on the lives of people living with such diseases. As they are rare tumors, patients often have difficulty finding teams specialized in sarcomas and support networks. In low- and middle-income countries, the challenges are exacerbated due to a need for established networks and medication access.
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