TERT promoter mutations in sinonasal malignant melanoma: a study of 49 cases.
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.
aDepartment of Oto-Rhino-Laryngology, Head and Neck Surgery, Karolinska University Hospital bDepartment of Oncology-Pathology, Karolinska Institute, Stockholm, Sweden.
Mattias
M
Jangard
Abdlsattar
A
Zebary
Boel
B
Ragnarsson-Olding
Johan
J
Hansson
D000368:Aged; D000369:Aged, 80 and over; D015331:Cohort Studies; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D008545:Melanoma / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D008875:Middle Aged; D009154:Mutation; D009297:Nasal Mucosa / Q000378:metabolism / Q000473:pathology; D009363:Neoplasm Proteins / Q000235:genetics* / Q000378:metabolism; D009367:Neoplasm Staging; D009669:Nose Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D010255:Paranasal Sinus Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D010256:Paranasal Sinuses / Q000378:metabolism / Q000473:pathology; D011401:Promoter Regions, Genetic; D012042:Registries; D013548:Sweden; D019098:Telomerase / Q000235:genetics* / Q000378:metabolism
D009363:Neoplasm Proteins; C509186:TERT protein, human; D019098:Telomerase