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TERT promoter mutations in sinonasal malignant melanoma: a study of 49 cases
- Source :
- Melanoma research. 25(3)
- Publication Year :
- 2015
-
Abstract
- Sinonasal malignant melanoma (SNMM) comprises less than 1% of all melanomas and is located in the nasal cavity and the paranasal sinuses. The majority of SNMMs have unknown underlying oncogenic driver mutations. The recent identification of a high frequency of driver mutations in the promoter of the telomerase reverse transcriptase (TERT) gene in cutaneous melanoma led us to investigate whether these mutations also occur in SNMM. Our aim was to determine the TERT promoter mutation frequencies in primary SNMMs. Laser capture microdissection and manual dissection were used to isolate tumour cells from 49 formalin-fixed paraffin-embedded tissues. The tumours were screened for TERT promoter mutations by direct Sanger sequencing. Information on NRAS, BRAF and KIT mutation was available from an earlier study. Overall, 8% (4/49) of SNMMs harboured TERT promoter mutations. One of these mutated tumours had a coexistent NRAS mutation and one had a BRAF mutation. Our findings show that TERT promoter mutations are present in a moderate proportion of SNMM. No conclusion can be drawn on their potential influence on the clinical outcome or tumour progression.
- Subjects :
- Nasal cavity
Male
Cancer Research
Nose Neoplasms
Dermatology
Tert promoter
Cohort Studies
Paranasal Sinuses
medicine
Humans
Registries
Promoter Regions, Genetic
Melanoma
Telomerase
Genetic Association Studies
Aged
Neoplasm Staging
Aged, 80 and over
Sweden
business.industry
Middle Aged
medicine.disease
Neoplasm Proteins
Nasal Mucosa
Paranasal sinuses
medicine.anatomical_structure
Oncology
Mutation
Cancer research
Female
business
human activities
Paranasal Sinus Neoplasms
Subjects
Details
- ISSN :
- 14735636
- Volume :
- 25
- Issue :
- 3
- Database :
- OpenAIRE
- Journal :
- Melanoma research
- Accession number :
- edsair.doi.dedup.....cf1bdb5ed6080eb8ae3564f6e8911d17