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PTEN Methylation Dependent Sinonasal Mucosal 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 als...

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Autores principales: Lee, Sang Hee, Roh, Mi Ryung, Kang, Beodeul, Park, Kyu Hyun, Kim, Soo Hee, Lee, Sang Eun, Rha, Sun Young
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Cancer Association 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4843734/
https://www.ncbi.nlm.nih.gov/pubmed/25797573
http://dx.doi.org/10.4143/crt.2014.356
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author Lee, Sang Hee
Roh, Mi Ryung
Kang, Beodeul
Park, Kyu Hyun
Kim, Soo Hee
Lee, Sang Eun
Rha, Sun Young
author_facet Lee, Sang Hee
Roh, Mi Ryung
Kang, Beodeul
Park, Kyu Hyun
Kim, Soo Hee
Lee, Sang Eun
Rha, Sun Young
author_sort Lee, Sang Hee
collection PubMed
description 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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spelling pubmed-48437342016-05-06 PTEN Methylation Dependent Sinonasal Mucosal Melanoma Lee, Sang Hee Roh, Mi Ryung Kang, Beodeul Park, Kyu Hyun Kim, Soo Hee Lee, Sang Eun Rha, Sun Young Cancer Res Treat Case Report 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. Korean Cancer Association 2016-04 2015-03-18 /pmc/articles/PMC4843734/ /pubmed/25797573 http://dx.doi.org/10.4143/crt.2014.356 Text en Copyright © 2016 by the Korean Cancer Association This is an Open-Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Lee, Sang Hee
Roh, Mi Ryung
Kang, Beodeul
Park, Kyu Hyun
Kim, Soo Hee
Lee, Sang Eun
Rha, Sun Young
PTEN Methylation Dependent Sinonasal Mucosal Melanoma
title PTEN Methylation Dependent Sinonasal Mucosal Melanoma
title_full PTEN Methylation Dependent Sinonasal Mucosal Melanoma
title_fullStr PTEN Methylation Dependent Sinonasal Mucosal Melanoma
title_full_unstemmed PTEN Methylation Dependent Sinonasal Mucosal Melanoma
title_short PTEN Methylation Dependent Sinonasal Mucosal Melanoma
title_sort pten methylation dependent sinonasal mucosal melanoma
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4843734/
https://www.ncbi.nlm.nih.gov/pubmed/25797573
http://dx.doi.org/10.4143/crt.2014.356
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