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TFE3-rearranged Head and Neck Neoplasms: Twenty-two Cases Spanning the Morphologic Continuum Between Alveolar Soft Part Sarcoma and PEComa and Highlighting Genotypic Diversity.
Am J Surg Pathol
November 2024
Department of Pathology, Faculty of Medicine in Pilsen, Charles University, Prague.
TFE3 rearrangements characterize histogenetically, topographically, and biologically diverse neoplasms. Besides being a universal defining feature in alveolar soft part sarcoma (ASPS) and clear cell stromal tumor of the lung, TFE3 fusions have been reported in subsets of renal cell carcinoma, perivascular epithelioid cell tumor (PEComa), epithelioid hemangioendothelioma and ossifying fibromyxoid tumors. TFE3-related neoplasms are rare in the head and neck and may pose diagnostic challenges.
View Article and Find Full Text PDFPropofol-induced transient arginine vasopressin deficiency.
Endocrinol Diabetes Metab Case Rep
October 2024
Southern Adelaide Diabetes and Endocrine Service, Flinders Medical Centre, Bedford Park, South Australia, Australia.
Summary: We describe and characterise the case of a 26-year-old female undergoing surgery for a right-sided sinonasal alveolar rhabdomyosarcoma who developed profound, transient arginine vasopressin deficiency (AVP-D, formerly central diabetes insipidus (DI)) associated with anaesthesia. In this case report, we characterise the development of AVP-D with serial copeptin and paired urine and serum osmolality measurements. Based on the anaesthetic agent's profile and the literature, we attribute this presentation to propofol exposure.
View Article and Find Full Text PDFSinonasal alveolar rhabdomyosarcoma with fusion expressing SOX10 and with nodal metastases: a double diagnostic pitfall.
J Clin Pathol
August 2024
School of Medicine and Population Health, The University of Sheffield, Sheffield, UK
Novel PAX3::MAML3 Fusion Identified in Alveolar Rhabdomyosarcoma, Using DNA Methylation Profiling to Expand the Genetic Spectrum of "Fusion-Positive" Cases.
Mod Pathol
November 2024
Department of Pathology and Laboratory Medicine, Cleveland Clinic, Cleveland, Ohio. Electronic address:
Article Synopsis
SMARCB1 (INI1)-deficient sinonasal carcinoma manifesting as oral lesions: A report of two cases.
Head Neck
March 2024
Oral and Maxillofacial Pathology and Oral Medicine, Faculty of Dentistry, University of Toronto, Toronto, Ontario, Canada.
Background: Sinonasal carcinomas represent a rare group of malignancies, accounting for less than 5% of all head and neck cancers and a worldwide incidence of less than 1 case per 100 000 inhabitants annually. Despite the restricted anatomical location, sinonasal carcinomas harbor some of the most histologically and molecularly diverse groups of tumors. SMARCB1 (INI1)-deficient sinonasal carcinomas are locally aggressive tumors commonly detected late, leading to devastating morbidity and mortality.
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