TERT promoter mutations in sinonasal malignant melanoma: a study of 49 cases

Melanoma Research
M JangardJ Hansson

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.

References

Jun 18, 2002·Nature·Helen DaviesP Andrew Futreal
Dec 25, 2004·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·Sara GandiniCarmelo Francesco Melchi
Feb 10, 2006·Current Opinion in Otolaryngology & Head and Neck Surgery
Mar 23, 2006·Current Opinion in Otolaryngology & Head and Neck Surgery·Patrick J Bradley
Jun 2, 2006·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·Chung-Ping HsuJiunn-Liang Ko
Jan 25, 2011·The Journal of Laryngology and Otology·N CliftonN S Jones
Mar 8, 2011·Cell·Douglas Hanahan, Robert A Weinberg
Apr 9, 2011·Annals of Surgical Oncology·Daniel JethanamestLuc G T Morris
Jun 7, 2011·JAMA : the Journal of the American Medical Association·Richard D CarvajalGary K Schwartz
Jun 18, 2011·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Katarina OmholtBoel K Ragnarsson-Olding
Sep 29, 2011·Proceedings of the National Academy of Sciences of the United States of America·Shibani MukherjeeJames M Roberts
Mar 3, 2012·Gene·Michael DanielTrygve O Tollefsbol
Jul 31, 2012·Cancer Treatment Reviews·Maria Ruden, Neelu Puri
Jan 26, 2013·Science·Susanne HornRajiv Kumar
Jan 26, 2013·Science·Franklin W HuangLevi A Garraway
Mar 30, 2013·Science·Bert VogelsteinKenneth W Kinzler
Jul 19, 2013·British Journal of Cancer·A ZebaryJ Hansson
Sep 3, 2013·Journal of Dermatological Science·Abdlsattar ZebaryJohan Hansson
Oct 9, 2013·Proceedings of the National Academy of Sciences of the United States of America·P Sivaramakrishna RachakondaRajiv Kumar
Jan 28, 2014·Melanoma Research·Friederike EgbertsChristoph Röcken

❮ Previous
Next ❯

Citations

Jan 17, 2017·Laboratory Investigation; a Journal of Technical Methods and Pathology·Emily A Merkel, Pedram Gerami
Feb 28, 2019·APMIS : Acta Pathologica, Microbiologica, Et Immunologica Scandinavica·Simon AndreasenIrene Wessel
Aug 5, 2020·Acta Ophthalmologica·Lauge Hjorth Mikkelsen
Mar 24, 2016·APMIS : Acta Pathologica, Microbiologica, Et Immunologica Scandinavica·Lauge H MikkelsenSteffen Heegaard
Apr 27, 2018·BMC Medical Genomics·Sunkyu KimJaewoo Kang
Mar 28, 2020·OncoTargets and Therapy·Shorook Na'araZiv Gil
Mar 5, 2016·Molecular Cancer Research : MCR·Robert J A BellJoseph F Costello
Jan 18, 2021·Experimental Dermatology·Ismael A VergaraRichard A Scolyer
May 21, 2021·Progress in Retinal and Eye Research·Niels J BrouwerMartine J Jager

❮ Previous
Next ❯

Methods Mentioned

BETA
surgical resection
antisense oligonucleotides
laser capture microdissection
DNA
PCR

Software Mentioned

SNMM

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.