Nonoverlapping Clinical and Mutational Patterns in Melanomas from the Female Genital Tract and Atypical Genital Nevi
| Autor: | Pedram Yazdan, Alexander Wenzel, Sapna M. Amin, Jaehyuk Choi, Bin Zhang, Christopher G. Bunick, Oriol Yélamos, Christina Y. Lee, Lauren Meldi Sholl, Emily A. Merkel, Jingyi Yang, Gerta E. Guitart, Pedram Gerami |
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| Rok vydání: | 2016 |
| Předmět: |
Adult
0301 basic medicine Pathology medicine.medical_specialty Skin Neoplasms Genital Neoplasms Female Mutation Missense Dermatology Biology Biochemistry Article Diagnosis Differential 03 medical and health sciences 0302 clinical medicine Dysplastic nevus syndrome Chromosome instability Biopsy medicine Humans Nevus Melanoma Molecular Biology In Situ Hybridization Fluorescence Aged Aged 80 and over medicine.diagnostic_test Biopsy Needle Cancer Cell Biology Middle Aged medicine.disease Immunohistochemistry 030104 developmental biology 030220 oncology & carcinogenesis Genital neoplasm Female Dysplastic Nevus Syndrome Fluorescence in situ hybridization |
| Zdroj: | Journal of Investigative Dermatology. 136:1858-1865 |
| ISSN: | 0022-202X |
| DOI: | 10.1016/j.jid.2016.05.094 |
| Popis: | Genital melanomas (GM) are the second most common cancer of the female external genitalia and may be confused with atypical genital nevi (AGN), which exhibit atypical histological features but have benign behavior. In this study, we compared the clinical, histologic and molecular features of 19 GM and 25 AGN. We described chromosomal copy number aberrations, and the mutational status of 50 oncogenes and tumor suppressor genes in both groups. Our study revealed that a pigmented lesion occurring in mucosal tissue, particularly in postmenopausal women, was more likely to be a melanoma than a nevus. GM had high levels of chromosomal instability with many copy number aberrations. Furthermore, we found a completely non-overlapping pattern of oncogenic mutations when comparing GM and AGN. In GM, we report somatic mutations in KIT and TP53. Conversely, AGN had frequent BRAF V600E mutations, which were not seen in any of the GM. Our results demonstrate that GM and AGN have distinct clinical and molecular changes, and that GM have a different mutational pattern compared to AGN. |
| Databáze: | OpenAIRE |
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