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Frequency of TERT promoter mutations in cutaneous melanoma varied by subtype
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TERT promoter mutations are one of the most common genetic alterations in cutaneous melanoma, and their frequency varied considerably depending on melanoma subtype, according to study results.
TERT promoter mutations occurred more frequently in nonacral cutaneous melanomas than in acral or mucosal melanomas and, in the subset of patients with nonacral melanoma, the mutations independently predicted poor prognosis, researchers wrote.
Researchers recently identified TERT promoter mutations at high frequencies in cutaneous melanoma tumor samples and cell lines. The mutations were found to have a UV signature and also lead to increased TERT gene expression, according to background information provided by researchers.
In the current study, Klaus Griewank, MD, of the department of dermatology at the University Hospital Essen in Germany, and colleagues sought to evaluate the presence and distribution of TERT promoter mutations and their association with clinico-pathological characteristics in 410 melanoma tumor samples.
Researchers identified TERT promoter mutations in 154 of 362 (43%) successfully sequenced melanomas.
Mutation frequencies varied according to melanoma subtype. Griewank and colleagues identified TERT promoter mutations in 50% of occult primary melanomas and 48% of melanomas arising in nonacral skin. They identified the mutations in 23% of mucosal melanomas and 19% of acral melanomas.
Researchers observed an association between TERT mutations and poorer survival among patients with nonacral cutaneous melanomas. Among that patient subset, median OS was 80 months for those with the mutation and 291 months for those with wild-type disease. When researchers adjusted for other covariates, they calculated an HR for OS of 2.47 (95% CI, 1.29-4.74).
Griewank and colleagues also identified several factors — such as BRAF or NRAS mutations (P<.001), histologic type (P=.002) and Breslow thickness (P<.001) — that were associated with the presence of TERT promoter mutations.
“Analysis of independent, prospectively collected data sets will be needed to validate our findings,” the researchers wrote. “Additional studies could further investigate whether TERT promoter mutations are of therapeutic relevance, either in terms of influencing the efficacy of established therapies or whether they might even prove to be valuable direct therapeutic targets.”
Disclosure: The researchers report no relevant financial disclosures.
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