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Classification of Fibro-osseous Tumors in the Craniofacial Bones using DNA Methylation and Copy Number Alterations.
Mod Pathol
January 2025
Department of Pathology and Medical Biology, University Medical Center Groningen, Groningen, the Netherlands; Department of Pathology, Amsterdam University Medical Center, Amsterdam, the Netherlands. Electronic address:
Fibro-osseous tumors of the craniofacial bones are a heterogeneous group of lesions comprising cemento-osseous dysplasia (COD), cemento-ossifying fibroma (COF), juvenile trabecular ossifying fibroma (JTOF), psammomatoid ossifying fibroma (PsOF), fibrous dysplasia (FD), and low-grade osteosarcoma (LGOS) with overlapping clinicopathological features. However, their clinical behavior and treatment differ significantly, underlining the need for accurate diagnosis. Molecular diagnostic markers exist for subsets of these tumors, including GNAS mutations in FD, SATB2 fusions in PsOF, mutations involving the RAS-MAPK signaling pathway in COD, and MDM2 amplification in LGOS.
View Article and Find Full Text PDFBiting off more than you can chew: a rare case of hyperparathyroidism jaw tumour syndrome.
Oxf Med Case Reports
January 2025
Consultant Nephrologist-Department of Nephrology and Transplantation, Fiona Stanley Hospital, Perth, WA, Australia.
Hyperparathyroidism Jaw Tumour Syndrome (HPT-JT) is a rare autosomal dominant disorder within the familial hyperparathyroidism group. Individuals with the disorder carry a gene mutation that predisposes them to early-onset primary hyperparathyroidism, ossifying jaw tumours, renal cystic disease, uterine tumours and parathyroid carcinomas. We present a case of a 41-year-old man referred to nephrology clinic with haemoproteinuria who was noted to have the constellation of renal cystic disease, personal and family history of hyperparathyroidism and recent jaw tumour excision.
View Article and Find Full Text PDFDevelopment of morphologically diverse benign neoplasms preceding metachronous oral squamous cell carcinoma: A rare case report.
Natl J Maxillofac Surg
November 2024
Department of Oral and Maxillofacial Pathology, Institute of Dental Sciences, Siksha 'O' Anusandhan Deemed to be University, Bhubaneswar, Odisha, India.
Eighteen months after the resection and micro-vascular reconstruction of central ossifying fibroma of the right mandible in a 54-year-old male patient, there occur two synchronous neoplasms, basal cell adenoma (BSA) and oral squamous cell carcinoma (OSCC). Two years after reconstructive surgery, the patient reported a second primary OSCC on the left retromolar mucosa. This case reports two morphologically diverse benign neoplasms preceding metachronous OSCC in one individual.
View Article and Find Full Text PDFOssifying fibromyxoid tumours: A case series.
Eur J Cancer
January 2025
Department of Medical Oncology, The Royal Marsden NHS Foundation Trust, London, UK; Institute of Cancer Research, London, UK. Electronic address:
Background: Ossifying fibromyxoid tumour is a rare mesenchymal soft tissue sarcoma with uncertain differentiation and variable metastatic potential.
Patients And Methods: This study offers a retrospective analysis of 23 patients diagnosed with OFMT between 1993 and 2024.
Results: The tumours most commonly arose in the extremities and trunk, with all patients undergoing surgical resection of the primary tumour.
Resection of a ventrally located ossified thoracic spinal meningioma: illustrative case.
J Neurosurg Case Lessons
January 2025
Division of Neurosurgery, Department of Surgery, Hospital Ignacio Pirovano, Buenos Aires, Argentina.
Background: Resection of calcified meningiomas in the ventral thoracic spinal canal remains a formidable surgical challenge despite advances in technology and refined microsurgical techniques. These tumors, which account for a small percentage of spinal meningiomas, are characterized by their hardness, complicating safe resection and often resulting in worse outcomes than their noncalcified counterparts.
Observations: The authors present the case of a 68-year-old woman with a ventrally located ossified meningioma at the T9-10 level, successfully treated via a posterolateral transpedicular approach.
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