Highlights from the latest articles in pharmacogenomics research

Evaluation of: Egberts F, Bergner I, Krüger S et al. Metastatic melanoma of unknown primary resembles the genotype of cutaneous melanomas Ann. Oncol. 25(1), 246–250 (2014).

In 1–8% of metastatic melanoma the primary tumor cannot be found. Although 90% of melanomas are of cutaneous origin, other origins exist. It has been proposed that the mutational status (i.e., BRAF, NRAS, KIT) can distinguish between different types of melanoma. Sixty-six melanomas of unknown primary origin from 44 melanoma patients were genotyped in order to identify the origin of the primary tumor and to evaluate the prognostic significance of mutational status.

The authors found BRAF mutations in 52.3% of patients, NRAS mutations in 28.6% of patients and no patients with mutations in the KIT gene. These results point towards genetic patterns most similar to cutaneous melanoma, the majority of which harbor BRAF or NRAS mutations, as opposed to mucosal melanoma which mainly harbors KIT mutations. However this study found that mutational status had no prognostic impact on clinical outcome and overall survival, adding to the already existing discrepancies in respect of the prognostic impact of these mutations.

– Written by Gal Markel and Gilli Galore-Haskel

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