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PTEN Methylation Dependent Sinonasal Mucosal Melanoma

 Sang Hee Lee  ;  Mi Ryung Roh  ;  Beodeul Kang  ;  Kyu Hyun Park  ;  Soo Hee Kim  ;  Sang Eun Lee  ;  Sun Young Rha 
 Cancer Research and Treatment, Vol.48(2) : 853-858, 2016 
Journal Title
 Cancer Research and Treatment 
Issue Date
Bone Neoplasms/secondary ; Carcinogenesis/genetics* ; CpG Islands/genetics ; DNA Methylation* ; DNA Mutational Analysis ; Epigenesis, Genetic* ; Female ; Humans ; Liver Neoplasms/secondary ; Melanoma/enzymology ; Melanoma/genetics* ; Melanoma/metabolism ; Melanoma/pathology* ; Middle Aged ; Mutation ; PTEN Phosphohydrolase/genetics* ; PTEN Phosphohydrolase/metabolism ; Signal Transduction
Methylation ; Phosphatase and tensin homolog ; Sinonasal melanoma
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.
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1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Dermatology (피부과학교실) > 1. Journal Papers
Yonsei Authors
Kang, Beodeul(강버들) ORCID logo https://orcid.org/0000-0001-5177-8937
Roh, Mi Ryung(노미령) ORCID logo https://orcid.org/0000-0002-6285-2490
Rha, Sun Young(라선영) ORCID logo https://orcid.org/0000-0002-2512-4531
Park, Kyu Hyun(박규현)
Lee, Sang Eun(이상은) ORCID logo https://orcid.org/0000-0003-4720-9955
Lee, Sang Hee(이상희)
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