title: PTEN Methylation Dependent Sinonasal Mucosal Melanoma.
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.
authors: Department of Dermatology, Severance Hospital, Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, Korea.
authors: Sang Hee
authors: SH
authors: Lee
authors: Department of Dermatology, Severance Hospital, Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, Korea.
authors: Mi Ryung
authors: MR
authors: Roh
authors: Yonsei Song-Dang Institute for Cancer Research, Yonsei University College of Medicine, Seoul, Korea.|Division of Medical Oncology, Department of Internal Medicine, Yonsei University College of Medicine, Seoul, Korea.
authors: Beodeul
authors: B
authors: Kang
authors: Yonsei Song-Dang Institute for Cancer Research, Yonsei University College of Medicine, Seoul, Korea.|Division of Medical Oncology, Department of Internal Medicine, Yonsei University College of Medicine, Seoul, Korea.
authors: Kyu Hyun
authors: KH
authors: Park
authors: Department of Pathology, Yonsei University College of Medicine, Seoul, Korea.
authors: Soo Hee
authors: SH
authors: Kim
authors: Department of Dermatology, Severance Hospital, Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, Korea.
authors: Sang Eun
authors: SE
authors: Lee
authors: Yonsei Song-Dang Institute for Cancer Research, Yonsei University College of Medicine, Seoul, Korea.|Division of Medical Oncology, Department of Internal Medicine, Yonsei University College of Medicine, Seoul, Korea.|Brain Korea 21 Plus Project for Medical Science, Yonsei University College of Medicine, Seoul, Korea.
authors: Sun Young
authors: SY
authors: Rha
mesh_terms: D001859:Bone Neoplasms / Q000556:secondary; D063646:Carcinogenesis / Q000235:genetics*; D018899:CpG Islands / Q000235:genetics; D019175:DNA Methylation; D004252:DNA Mutational Analysis; D044127:Epigenesis, Genetic; D005260:Female; D006801:Humans; D008113:Liver Neoplasms / Q000556:secondary; D008545:Melanoma / Q000201:enzymology / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D008875:Middle Aged; D009154:Mutation; D051059:PTEN Phosphohydrolase / Q000235:genetics* / Q000378:metabolism; D015398:Signal Transduction
chemical_list: D051059:PTEN Phosphohydrolase
keywords: Methylation; Phosphatase and tensin homolog; Sinonasal melanoma