Melanomas that arise in sun-protected sites, including acral and oral mucosal melanomas, are likely under the control of unique, specific mechanisms that lead to mutagenesis through various pathways. In this study, we examined somatic mutations in tumors by targeted sequencing using a custom Ion Ampliseq Panel, comprising hotspots of 14 genes that are frequently mutated in solid tumors. Tumor DNA was extracted from 9 formalin fixation, paraffin-embedded sun-protected melanomas (4 primary oral mucosal melanomas and 5 acral lentiginous melanomas), and we identified mutations in the NRAS , PIK3CA , EGFR , HRAS , ERBB2 , and ROS1 genes. This study reveals new actionable mutations that are potential targets in the treatment of photo-protected melanomas. Additional studies on more of these melanoma subtypes could confirm our findings and identify new mutations.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1097/DAD.0000000000002213 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Giant Basal Cell Carcinoma Causing Axillary Contracture: A Case Report of an Unusual Localization of an Advanced Case.
Ann Dermatol
November 2023
Department of Plastic, Reconstructive and Aesthetic Surgery, Baskent University Faculty of Medicine, Ankara, Turkey.
Basal cell carcinoma (BCC) is the most common type of non-melanoma skin cancer. Although BCC arises most commonly in sun-exposed areas of the body, such as the head and neck, it infrequently can be seen in sun-protected parts as well. Axilla is one of the least encountered areas of BCC.
View Article and Find Full Text PDFDifferential gradients of immunotherapy vs targeted therapy efficacy according to the sun-exposure pattern of the site of occurrence of primary melanoma: a multicenter prospective cohort study (MelBase).
Front Oncol
October 2023
Nantes Université, Univ Angers, INSERM, Immunology and New Concepts in ImmunoTherapy, INCIT, UMR 1302, Nantes, France.
Background: The tumor mutational burden (TMB) is high in melanomas owing to UV-induced oncogenesis. While a high TMB is a predictive biomarker of response to PD-1 inhibitors, it may be associated with the rise of resistant clones to targeted therapy over time. We hypothesized that survivals may depend on both the sun-exposure profile of the site of primary melanoma and the type of systemic treatment.
View Article and Find Full Text PDFVulvar Basal Cell Carcinoma in Postmenopausal Women: Two Case Reports.
J Menopausal Med
April 2023
Department of Obstetrics and Gynecology, Dong-A University, College of Medicine, Busan, Korea.
Basal cell carcinoma (BCC) is a major non-melanoma skin cancer, and its incidence is increasing worldwide. Although the main etiology is sun exposure, BCC may develop in sun-protected areas such as the vulva. The sonic hedgehog signaling pathway mutation may explain the mechanism underlying the occurrence of vulvar BCC.
View Article and Find Full Text PDFCharacterizing Skin Cancer in Transplant Recipients by Fitzpatrick Skin Phototype.
Dermatol Ther (Heidelb)
January 2023
Department of Dermatology & Dermatologic Surgery, Medical University of South Carolina, Charleston, SC, USA.
Introduction: Nearly half of organ transplants occur annually in patients with Fitzpatrick skin phototypes (Fitz type) III-VI. Organ transplant recipients (OTRs) are at risk for sequelae of chronic immunosuppression, of which skin cancer is common. As literature regarding skin cancer risk is largely conducted in OTRs with Fitz types I and II, we aimed to further characterize the incidence and risk factors for skin cancer in OTRs with higher Fitz types.
View Article and Find Full Text PDFActionable Mutation Profile of Sun-Protected Melanomas in South America.
Am J Dermatopathol
October 2022
Department of Stomatology, School of Dentistry, University of São Paulo, São Paulo, Brazil.
Melanomas that arise in sun-protected sites, including acral and oral mucosal melanomas, are likely under the control of unique, specific mechanisms that lead to mutagenesis through various pathways. In this study, we examined somatic mutations in tumors by targeted sequencing using a custom Ion Ampliseq Panel, comprising hotspots of 14 genes that are frequently mutated in solid tumors. Tumor DNA was extracted from 9 formalin fixation, paraffin-embedded sun-protected melanomas (4 primary oral mucosal melanomas and 5 acral lentiginous melanomas), and we identified mutations in the NRAS , PIK3CA , EGFR , HRAS , ERBB2 , and ROS1 genes.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!