PTEN Methylation Dependent Sinonasal Mucosal Melanoma.

Author: Sang Hee LEE ¹ ; Mi Ryung ROH ; Beodeul KANG ; Kyu Hyun PARK ; Soo Hee KIM ; Sang Eun LEE ; Sun Young RHA
Author Information

1. Department of Dermatology, Severance Hospital, Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, Korea.
Publication Type:Case Report
Keywords: Methylation; Phosphatase and tensin homolog; Sinonasal melanoma
MeSH: Carcinogenesis; CpG Islands; Epigenomics; Liver; Melanoma*; Methylation*; Neoplasm Metastasis; Phosphatidylinositols
From:Cancer Research and Treatment 2016;48(2):853-858
CountryRepublic of Korea
Language:English
Abstract: Sinonasal mucosal melanoma (SMM) is an aggressive and rare type of melanoma. Although the classic RAS-RAF-MEK pathway is thought to be the main pathway involved in melanoma pathogenesis, genetic alterations in the phosphatidylinositol 3-kinase-AKT pathway, including PTEN-regulated signaling, are also thought to contribute. So far, data regarding altered PTEN expression and epigenetic mechanism of PTEN silencing in development of SMM is extremely limited. Herein we report on a case of SMM with liver and bone metastases with an epigenetic alteration of PTEN. Results of mutation analysis for BRAF, NRAS, HRAS, KRAS, PIK3CA, c-Kit, and PTEN were negative; however, methylation of PTEN CpG islands was observed. Our case not only supports PTEN as a major tumor suppressor involved in melanoma tumorigenesis, but also a potential epigenetic mechanism of PTEN silencing in development of SMM.