Related Experiment Video
Updated: Apr 15, 2026
06:09
Spatial and Temporal Control of Murine Melanoma Initiation from Mutant Melanocyte Stem Cells
Published on: June 7, 2019
9.7K
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.
Cancer Research and Treatment
|March 24, 2015
Summary
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.
