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Updated: Apr 15, 2026
Spatial and Temporal Control of Murine Melanoma Initiation from Mutant Melanocyte Stem Cells
Published on: June 7, 2019
PTEN Methylation Dependent Sinonasal Mucosal Melanoma
Sang Hee Lee1, Mi Ryung Roh1, Beodeul Kang2,3
1Department of Dermatology, Severance Hospital, Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, Korea.
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.
Insights
Sinonasal mucosal melanoma (SMM) involves the phosphatidylinositol 3-kinase-AKT pathway. This case reveals PTEN gene silencing through epigenetic alteration, a key mechanism in SMM development.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Sinonasal mucosal melanoma (SMM) is a rare and aggressive cancer.
- The phosphatidylinositol 3-kinase-AKT pathway, including PTEN signaling, is implicated in melanoma pathogenesis.
- Limited data exists on PTEN alterations and epigenetic silencing in SMM.
Observation:
- A case of SMM with liver and bone metastases was analyzed.
- Mutation analysis for key genes (BRAF, NRAS, HRAS, KRAS, PIK3CA, c-Kit, PTEN) was negative.
- PTEN CpG island methylation was detected, indicating epigenetic silencing.
Findings:
- PTEN gene mutations were absent, but PTEN expression was silenced via methylation.
- This supports PTEN's role as a tumor suppressor in melanoma.
- An epigenetic mechanism for PTEN silencing in SMM was identified.
Implications:
- PTEN epigenetic silencing is a potential driver in SMM tumorigenesis.
- This finding may open new avenues for SMM therapeutic strategies.
- Further research into epigenetic modifications in SMM is warranted.
