Vol 11, No 1 (2025)
Review paper
Published online: 2025-03-14
The role of complementary diagnostic tools in revealing melanocytic lesions
1
DOI: 10.5603/fd.105351
Forum Dermatologicum 2025;11(1):7-13.
Abstract
Melanocytic lesions encompass a broad spectrum of skin neoplasms, ranging from benign nevi to malignant melanoma. Given melanoma’s aggressive nature, early detection and accurate diagnosis are critical for optimal patient outcomes. This review explores the role of complementary diagnostic tools in evaluating melanocytic lesions, focusing on histopathological, immunohistochemical, and molecular-genetic techniques.
Histopathology remains the gold standard for diagnosing melanocytic lesions, relying on key features such as asymmetry, architectural disorder, cellular atypia, mitotic activity, and pagetoid spread. Prognostic factors, including Breslow thickness, ulceration, and sentinel lymph node metastasis, guide risk stratification and treatment decisions.
Immunohistochemistry enhances diagnostic precision by identifying particularly valuable markers in diagnostically challenging cases and supports pathological assessment. Additionally, molecular and genetic tools refine classification and risk assessment, including fluorescence in situ hybridization, comparative genomic hybridization, next-generation sequencing, and gene expression profiling. BRAF, NRAS, and KIT mutation analyses guide targeted therapies, while TERT promoter and CDKN2A deletions could support prognostication.
Emerging technologies such as artificial intelligence (AI)-assisted histopathology will enhance diagnostic reproducibility in the future. Liquid biopsies that detect circulating tumor DNA offer promising support for early melanoma detection and monitoring and provide a noninvasive method for tracking tumor progression.
Integrating histopathology with immunohistochemical and molecular tools minimizes diagnostic uncertainty and enables personalized treatment strategies. Future advancements, including AI, multi-omics approaches, and minimally invasive molecular diagnostics, are expected to refine melanoma detection, prognostication, and therapeutic decision-making, further advancing precision medicine in dermatologic oncology.
Keywords: melanocytic lesionsmelanomahistopathologyimmunohistochemistrymolecular diagnosticsartificial intelligenceliquid biopsy
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