Molecular characterization of biphenotypic epithelioid and plexiform melanoma with deep penetrating nevus-like features
| Autor: | Kyu Young Song, Alessio Giubellino, Sarah A. Munro, Isabella C. Glitza Oliva, Carlos A. Torres-Cabala, Andrew C. Nelson, Yuyu He |
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| Rok vydání: | 2021 |
| Předmět: |
Mutation
Skin Neoplasms biology Melanoma Receptor Protein-Tyrosine Kinases Dermatology Malignancy medicine.disease medicine.disease_cause NAD Phenotype General Biochemistry Genetics and Molecular Biology Receptor tyrosine kinase Oncology Cancer research biology.protein medicine PTEN Humans Signal transduction Gene Nevus |
| Zdroj: | Pigment cellmelanoma researchREFERENCES. 35(2) |
| ISSN: | 1755-148X |
| Popis: | Tumor heterogeneity is a relevant hallmark of melanoma due to the high mutation burden and immunogenicity commonly encountered. Heterogeneity at the histologic level frequently corresponds to heterogeneity at the molecular level. A better understanding of this feature of malignancy can help refine the development of predictive biomarkers and to define more effective targeted therapies. Here, we describe a case of melanoma displaying a dual phenotype: a DPN-like/plexiform portion in conjunction with a conventional epithelioid morphology. Molecular studies revealed shared BRAF and PTEN mutations in both components but a CTNNB1 mutation was exclusively found in the DPN-like area of the tumor, consistent with the distinct morphology observed. There was considerable heterogeneity in sequence variants identified in the two regions. Gene expression analysis highlighted differentially regulated genes between the two histologies, including a relevant cluster of genes in the receptor tyrosine kinase (RTK) family and related signaling pathways upregulated in the DPN-like/plexiform area. |
| Databáze: | OpenAIRE |
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