Caracterización histológica de los melanomas con mutaciones en el promotor de TERT

Abstract

Along with mutations in the BRAF and NRAS genes, those in the promoter of the TERT gene(pTERT) are the most frequent somatic mutations in malignant melanoma (MM). (1)The latter have recently shown an important relevance since they condition a greater aggressivenessof the MM, which translates into worse survival, especially if they are associated with mutations inBRAF or NRAS. (2–5)Additionally, certain histological findings characteristic of MM, such as ulceration, the mitoticindex or a higher Breslow index, allow a worse prognosis to be predicted.Furthermore, it has been described that fast-growing MM, with a more aggressive behavior, showalmost twice as many mutations in pTERT than slow-growing ones.(6)There are histopathological findings in relation to specific mutations, such as in the case ofBRAF. Thus, MM with BRAF mutations have a predominance of epithelioid cellularity with nestformation, intense pigmentation, and pagetoid extension. However, in the case of NRAS, suchcharacteristic data have not been found. (7) Finally, it is unknown whether MM with a pTERTmutation present characteristic histological features like those with a BRAF mutation...