PTEN Methylation Dependent Sinonasal Mucosal Melanoma
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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.
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.
참고문헌 (15)
- Gavriel H, "Review : mucosal melanoma of the head and neck", Melanoma Res, 21, pp.257~266 (2011)
- Hodis E, "A landscape of driver mutations in melanoma", Cell, 150, pp.251~263 (2012)
- Sondak VK, "Indications and options for systemic therapy in melanoma", Surg Clin North Am, 94, pp.1049~1058 (2014)
- Mirmohammadsadegh A, "Epigenetic silencing of the PTEN gene in melanoma", Cancer Res, 66, pp.6546~6552 (2006)
- Li J, "Aberrant CpG island methylation of PTEN is an early event in nasopharyngeal carcinoma and a potential diagnostic biomarker", Oncol Rep, 31, pp.2206~2212 (2014)
- Turri-Zanoni M, "Sinonasal mucosal melanoma : molecular profile and therapeutic implications from a series of 32 cases", Head Neck, 35, pp.1066~1077 (2013)
- Zebary A, "KIT, NRAS and BRAF mutations in sinonasal mucosal melanoma : a study of 56 cases", Br J Cancer, 109, pp.559~564 (2013)
- Si L, "Prevalence of BRAF V600E mutation in Chinese melanoma patients : large scale analysis of BRAF and NRAS mutations in a 432-case cohort", Eur J Cancer, 48, pp.94~100 (2012)
- Livak KJ, "Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T))method", Methods, 25, pp.402~408 (2001)
- Sandell S, "An intronic polymorphic deletion in the PTEN gene : implications for molecular diagnostic testing", Br J Cancer, 108, pp.438~441 (2013)
- Parkin DM, "Global cancer statistics, 2002", CA Cancer J Clin, 55, pp.74~108 (2005)
- Sun CZ, "Treatment and prognosis in sinonasal mucosal melanoma : a retrospective analysis of 65 patients from a single cancer center", Head Neck, 36, pp.675~681 (2014)
- Zhou XP, "Epigenetic PTEN silencing in malignant melanomas without PTEN mutation", Am J Pathol, 157, pp.1123~1128 (2000)
- Lahtz C, "Methylation of PTEN as a prognostic factor in malignant melanoma of the skin", J Invest Dermatol, 130, pp.620~622 (2010)
- Mikhail M, "PTEN expression in melanoma : relationship with patient survival, Bcl-2 expression, and proliferation", Clin Cancer Res, 11, pp.5153~5157 (2005)