<b><i>TERT</i></b> Promoter Mutational Status in the Management of Cutaneous Melanoma: Comparison with Sentinel Lymph Node Biopsy

Abstract

&lt;b&gt;&lt;i&gt;Background:&lt;/i&gt;&lt;/b&gt; While &lt;i&gt;BRAF&lt;/i&gt; mutations seem important for early melanomagenesis, mutations in the &lt;i&gt;TERT&lt;/i&gt; promoter (&lt;i&gt;TERT&lt;/i&gt;p) are related to metastasis. Yet, in conventional melanoma management, risk stratification does not depend on molecular biomarkers that can indicate the stage of progression, but rather on clinical, pathological, sentinel lymph node (SLN), and radiologic evaluation. The aim of this work was to evaluate the frequency and prognostic impact of &lt;i&gt;TERT&lt;/i&gt;p mutations, comparing their predictive value to those of conventional procedures in melanoma management. &lt;b&gt;&lt;i&gt;Methods:&lt;/i&gt;&lt;/b&gt; Mutational analysis of a series of 91 cases was performed. The correlations between &lt;i&gt;TERT&lt;/i&gt;p and &lt;i&gt;BRAF&lt;/i&gt; mutational status and clinicopathological features were assessed. &lt;b&gt;&lt;i&gt;Results:&lt;/i&gt;&lt;/b&gt; The mutation rate was 33% for &lt;i&gt;TERT&lt;/i&gt;p and 30% for &lt;i&gt;BRAF&lt;/i&gt;. There was 68% concordance between primary and metastatic samples for &lt;i&gt;TERT&lt;/i&gt;p mutations and 92% for &lt;i&gt;BRAF&lt;/i&gt; mutations. &lt;i&gt;TERT&lt;/i&gt;p mutations are significantly associated with the presence of &lt;i&gt;BRAF&lt;/i&gt; mutations, features of worse prognosis, and a reduced disease-free survival. Also, &lt;i&gt;TERT&lt;/i&gt;p mutational status was similar to SLN biopsy as a predictive factor of cutaneous melanoma recurrence and metastasis. &lt;b&gt;&lt;i&gt;Conclusions:&lt;/i&gt;&lt;/b&gt; The predictive value of &lt;i&gt;TERT&lt;/i&gt;p mutations may be similar to that of SLN biopsy and its integration in the management algorithm of melanoma patients should be considered.

TERT Promoter Mutation in Benign and Malignant Salivary Gland Tumors; A Cross-Sectional Study

“…During the last 15 years, extensive studies have been conducted on the role of TERT promoter gene mutation in increasing telomere length and its effect on cancer. However, the role of these mutations has been examined in many tumors of the central nervous system (29)(30)(31), thyroid (32,33), urinary tract (34,35), cutaneous melanoma (36,37), sarcoma (38,39), ovary (40) and gastrointestinal tumors (41,42).…”