Retrospective study for the analysis of mutations in melanomas and associated nevi, present within the same lesion, through paraffin DNA extraction

• Grant number: 12/15238-0
• Support Opportunities: Regular Research Grants
• Start date: October 01, 2012
• End date: September 30, 2014
• Field of knowledge: Health Sciences - Medicine
• Principal Investigator: Ediléia Bagatin
• Grantee: Ediléia Bagatin
• Host Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil
• Associated researchers: Danielle Ioshimoto Shitara Do Nascimento ; Susana Sardá Puig
• Associated scholarship(s): 12/20683-2 - Proyecto de investigacion de doctorado en dermatologia, BE.PC

Abstract

Melanoma is the deadliest skin cancer. The better comprehension of its pathologic pathways, can help improve the early diagnosis and therapeutics of this skin cancer. Among the risk factors described in the literature is presence of melanocytic nevi (moles). The melanoma may occur in pre-existing lesions or without (melanomas "de novo"). The role of pre-existing nevi in the pathogenesis of melanoma is still controversial in the literature. Some genetic studies have demonstrated the presence of genetic alterations similar to melanoma in common nevi, suggesting a possible precursor role for nevi. On the other hand, there are rare studies in the literature regarding the genetic evaluation of the melanomas and nevi portions within the same lesion. Objective: Retrospective study for the analysis of mutations present in the melanoma and nevus portions of lesions presenting both melanoma and nevi within the same lesion, the same time; in the aim of evaluating if the mutations are similar, corroborating the role of nevi as precursor lesions, or if the mutations differ, helping improve the existing knowledge of melanoma pathogenesis. As a secondary objective is to identify possible oncogenes or deletions of tumor suppressor genes that may be related to melanoma genesis. Methods: Paraffin blocks from a specialized dermatopathology center in the city of São Paulo, with the histopathological diagnosis of melanoma with associated nevi will be submitted to paraffin DNA extraction and evaluation of the presence of mutations in the following genes: BRAF, NRAS, GRIN2. Further, it'll be evaluated the presence of oncogenes and the deletions of tumor suppressor genes in both melanoma and nevus portions of the lesion. The laboratory evaluation will be performed in the specialized laboratory of the Genetic Reference Center of the Melanoma Unit of the University Hospital of Barcelona-expert in the performance of genetic evaluation of melanoma. The analysis of the data obtained from the study, as well as generation of publications, will be held in UNIFESP-SP. (AU)

Scientific publications

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

SHITARA, DANIELLE; NASCIMENTO, MAURICIO M.; PUIG, SUSANA; YAMADA, SERGIO; ENOKIHARA, MILVIA M. S. S.; MICHALANY, NILCEO; BAGATIN, EDILEIA. Nevus-Associated Melanomas: Clinicopathologic Features. American Journal of Clinical Pathology, v. 142, n. 4, p. 485-491, OCT 2014. (12/20683-2, 12/15238-0)

SHITARA, D.; TELL-MARTI, G.; BADENAS, C.; ENOKIHARA, M. M. S. S.; ALOS, L.; LARQUE, A. B.; MICHALANY, N.; PUIG-BUTILLE, J. A.; CARRERA, C.; MALVEHY, J.; et al. Mutational status of naevus-associated melanomas. British Journal of Dermatology, v. 173, n. 3, p. 671-680, SEP 2015. (12/15238-0)