In this study, we analyzed multiple somatic mutations in 10 genes relevant in melanoma tumorigenesis and targeted therapies. Overall, 45% of the tumors showed mutations and, in particular, 33% had multiple mutations. Based on our results, we conclude that the assessment of mutation status of multiple genes, including CDKN2A, could provide a genetic profile that can be useful as a prognostic and therapeutic marker in melanocytic tumors.
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http://dx.doi.org/10.1159/000356878 | DOI Listing |
Postepy Dermatol Alergol
December 2024
Department of Dermatology, Venereology and Allergology, Wroclaw Medical University, Wroclaw, Poland.
Introduction: Collision skin lesions (CSL) are rare clinical and pathological entities, posing significant diagnostic and therapeutic challenges. These lesions comprise at least two distinct cell populations - benign and/or malignant neoplasms - that are adjacent yet clearly demarcated. CSL were categorized as collision tumours into three types: two benign lesions, one benign and one malignant lesion, and two malignant lesions, with the most common being basal cell carcinoma (BCC) and melanocytic naevus.
View Article and Find Full Text PDFDermatologie (Heidelb)
January 2025
MVZ Dermatohistopathologie Heidelberg, Mönchhofstr. 52, 69120, Heidelberg, Deutschland.
Background: The update of the World Health Organisation (WHO) classification of skin tumours has led to new aspects in the classification of melanocytic tumours.
Objectives: Presentation of the classification of melanocytic tumours in light of current clinical, histological and genetic data.
Materials And Methods: Review of the classification of melanocytic neoplasms in the fifth edition of the WHO classification of skin tumours, taking into account current disease concepts.
Dermatologie (Heidelb)
January 2025
Universitäts-Hautklinik Tübingen, Liebermeisterstr. 25, 72076, Tübingen, Deutschland.
The histological diagnosis of pediatric melanocytic tumors is challenging, as benign nevi often resemble aggressive tumors. Accurate diagnosis is crucial for the early detection of rare pediatric melanomas. Recent advancements have established a classification based on genetic backgrounds.
View Article and Find Full Text PDFJ Oral Pathol Med
January 2025
Division of Oral and Maxillofacial Pathology, School of Dentistry, University of São Paulo, São Paulo, São Paulo, Brazil.
Background: Melanocytic neoplasms are rare in the oral cavity and represent a diagnostic challenge due to the overlap between benign and malignant lesions. However, their pathogenesis is not fully elucidated. The aim of this study was to evaluate the expression of the cell cycle-related proteins p16, CDK4, and PTEN in oral melanocytic nevi and melanomas.
View Article and Find Full Text PDFCureus
December 2024
Dermatology, University of California, Davis Medical Center, Sacramento, USA.
Melanonychia describes black pigmentation of the nail plate that results from either melanocyte activation (such as infections, local inflammatory disorders, local trauma affecting the nail plate, numerous systemic conditions, and medications) or melanocyte hyperplasia (such as benign neoplasms or malignant tumors) or blood (resulting from a trauma-associated subungual hematoma). The black dyschromia may include not only the nail plate but also the proximal nailfold. The Hutchinson sign refers to black discoloration of both the proximal nailfold and adjacent nail plate when the underlying pigmented lesion is a malignant melanoma.
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