Cytogenetics of melanoma: a review
- PMID: 26030295
Cytogenetics of melanoma: a review
Abstract
Malignant melanoma is an aggressive cutaneous neoplasm whose incidence has continued to increase worldwide. Currently, histopathologic examination of specimens is the gold standard for the diagnosis and categorization of melanoma. Cytogenetic analysis represents a powerful, and currently underused, adjunct to traditional histologic examination in distinguishing nevi and melanomas. Chromosomal studies have shown that malignant melanomas often contain multiple chromosomal alterations, most commonly of chromosomes 1, 6, 7, 9, 10 and 11. These chromosomes often include genes within the MAPK molecular pathway, which is involved in the development and progression of melanoma. Fluorescence in situ hybridization (FISH) can detect a number of recurrent anomalies, and commercially available kits for melanoma detection have been devised. The utility of cytogenetics in melanocytic lesions at certain anatomic sites has been evaluated, including acral lesions, uveal lesions, and lymph node metastases. Recurring cytogenetic anomalies have been defined in various challenging histologic subtypes, such as desmoplastic melanomas and Spitzoid lesions. Cytogenetic analysis may also be used to provide supplementary information in prognostication, particularly in uveal melanomas. We provide a brief review of the molecular pathways found in melanoma and a summary of what is known and remains unknown regarding cytogenetic aberrations associated with malignant melanoma.
Similar articles
-
The 2018 World Health Organization Classification of Cutaneous, Mucosal, and Uveal Melanoma: Detailed Analysis of 9 Distinct Subtypes Defined by Their Evolutionary Pathway.Arch Pathol Lab Med. 2020 Apr;144(4):500-522. doi: 10.5858/arpa.2019-0561-RA. Epub 2020 Feb 14. Arch Pathol Lab Med. 2020. PMID: 32057276 Review.
-
A Diagnostic Algorithm Combining Immunohistochemistry and Molecular Cytogenetics to Diagnose Challenging Melanocytic Tumors.Appl Immunohistochem Mol Morphol. 2018 Nov/Dec;26(10):714-720. doi: 10.1097/PAI.0000000000000511. Appl Immunohistochem Mol Morphol. 2018. PMID: 28362709 Clinical Trial.
-
Deep penetrating nevus-like borderline tumors: A unique subset of ambiguous melanocytic tumors with malignant potential and normal cytogenetics.Eur J Dermatol. 2014 Sep-Oct;24(5):594-602. doi: 10.1684/ejd.2014.2393. Eur J Dermatol. 2014. PMID: 25118781
-
Enhanced detection of spitzoid melanomas using fluorescence in situ hybridization with 9p21 as an adjunctive probe.Am J Surg Pathol. 2012 Jan;36(1):81-8. doi: 10.1097/PAS.0b013e31822d5ff8. Am J Surg Pathol. 2012. PMID: 21989344
-
Molecular cytogenetics of cutaneous melanocytic lesions - diagnostic, prognostic and therapeutic aspects.Histopathology. 2010 Jan;56(1):121-32. doi: 10.1111/j.1365-2559.2009.03452.x. Histopathology. 2010. PMID: 20055910 Review.
Cited by
-
Genomics and Epigenomics in the Molecular Biology of Melanoma-A Prerequisite for Biomarkers Studies.Int J Mol Sci. 2022 Dec 31;24(1):716. doi: 10.3390/ijms24010716. Int J Mol Sci. 2022. PMID: 36614156 Free PMC article. Review.
-
Genetics of metastasis: melanoma and other cancers.Clin Exp Metastasis. 2018 Aug;35(5-6):379-391. doi: 10.1007/s10585-018-9893-y. Epub 2018 May 2. Clin Exp Metastasis. 2018. PMID: 29722002 Review.