Carcinoma ex pleomorphic adenoma (CXPA) is an aggressive epithelial and/or myoepithelial neoplasm that arises in association with a pleomorphic adenoma (PA). Its etiopathogenesis remains poorly understood, but it is believed that the development of this tumor is due to the accumulation of genetic, protein, metabolic, and epigenetic alterations in a PA. A retrospective review of the Salivary Gland Tumor Registry in Pilsen yielded 84 CXPA, namely 25/84 salivary duct carcinoma (SDC), 15/84 myoepithelial carcinoma (MC), 1/84 epithelial-myoepithelial carcinoma (EMC), and 1/84 adenoid cystic carcinoma (AdCC). All 84 CXPA cases were analyzed by next-generation sequencing (NGS) and/or fluorescence in situ hybridization (FISH). Forty-three tumors originally diagnosed as CXPA (43/84, 51.2%) showed some molecular alteration. Fusion transcripts were identified in 12/16 (75%) CXPA, including LIFR::PLAG1, CTNNB1::PLAG1, FGFR1::PLAG1, and a novel fusion, HMGA2::LINC02389. Most of the fusions were confirmed by FISH using PLAG1 (6/11) and HMGA2 (1/1) gene break probes. Split signals indicating gene break were identified by FISH for PLAG1 (12/17), HMGA2 (3/4), EWSR1 (7/22), and MYB (2/7). Concerning pathogenic mutations, only CXPA with epithelial differentiation (SDC) presented these alterations, including HRAS mutation (2/4), TP53 (1/4), PTEN (1/4), and ATK1 (1/4). In addition, amplifications in ERBB2 (17/35), MDM2 (1/4), and EWSR1 (1/7) were detected. A novel finding was the discovery of an HMGA2::LINC02389 fusion in 1 patient with EMC ex-PA. The present results indicate that molecular profiling of CXPA with myoepithelial differentiation (MC) tends to reveal chromosomal fusion events, whereas CXPA with epithelial differentiation (SDC) tends to have a higher frequency of pathogenic mutations and gene amplifications.
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http://dx.doi.org/10.1097/PAS.0000000000002307 | DOI Listing |
BMC Oral Health
December 2024
Department of Oral and Maxillofacial Surgery, Xuchang Central Hospital, Henan, China.
Objectives: This study explored the suitability of local anaesthesia with conscious sedation for parotid gland tumour surgery.
Methods: Three hundred sixty-four medical records were reviewed to gather data on several key aspects for retrospective analysis. These included age, incision length, operation time, tumour size, NNIS score, ASA score, and pathology.
Int J Mol Sci
November 2024
Department of Otolaryngology, Academy of Applied Medical and Social Sciences, 82-300 Elblag, Poland.
Salivary gland tumors are rare head and neck tumors constituting up to 6% of all head and neck neoplasms; despite being mostly benign, these tumors present in diverse histological subtypes, making them challenging to diagnose and treat. Our research aims to investigate the link between inflammation and tumorigenesis within the salivary glands based on the literature regarding the etiopathogenesis of benign salivary gland tumors. This scoping review was conducted following the PRISMA extension for scoping reviews and reporting guidelines.
View Article and Find Full Text PDFGland Surg
November 2024
State Key Laboratory of Oral Diseases & National Center for Stomatology & National Clinical Research Center for Oral Diseases, West China Hospital of Stomatology, Sichuan University, Chengdu, China.
Background: Transoral endoscopic resection is an updated treatment of accessory parotid gland tumors. The aim of this study was to present the endoscopic transoral resection surgical technique and clinical outcomes of accessory parotid tumors.
Methods: Articles on endoscopic transoral approach for accessory parotid tumors were searched in PubMed, China National Knowledge Infrastructure (CNKI), and Web of Science databases.
APMIS
January 2025
Department of Pathology, University Hospital of Helsinki and Turku, Helsinki, Finland.
Pleomorphic adenoma (PA) is a benign salivary gland tumour that may recur or undergo malignant transformation (CXPA). Toll-like receptors (TLR) mediate immune responses triggered by various agents such as viruses and are related to tumour formation either by stimulating or suppressing their growth, with variation across different tumour entities. We compared TLR immunohistochemical expression in PA, its recurrent counterparts and CXPA and evaluated the effect of virus presence in these tumours.
View Article and Find Full Text PDFJ Rhinol
July 2024
Department of Otorhinolaryngology, Children's Health Ireland at Temple Street, Dublin, Ireland.
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