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KMID : 0939920160480020853
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대한암학회지
2016 Volume.48 No. 2 p.853 ~ p.858
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PTEN Methylation Dependent Sinonasal Mucosal Melanoma
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Lee Sang-Hee
Roh Mi-Ryung
Kang Beo-Deul
Park Kyu-Hyun
Kim Soo-Hee
Lee Sang-Eun
Rha Sun-Young
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Abstract
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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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KEYWORD
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Methylation, Phosphatase and tensin homolog, Sinonasal melanoma
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