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Gene mutation burden linked to primary site of melanoma

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NEW YORK — Overall mutation burden appeared to be associated with the primary site of malignant melanoma, according to retrospective study results presented at HemOnc Today Melanoma and Cutaneous Malignancies.

However, no significant associations between primary tumor site and specific genetic mutations were found.

“Molecular profiling is becoming an increasingly important aspect in the interrogation of primary cancers,” Johanna Lou, PhD, from the department of surgical oncology at Fox Chase Cancer Center, and colleagues wrote. “Next-generation sequencing is being used at our institution to examine hot-spot mutations in 50 potentially targetable cancer-related genes in various tumors.”

Lou and colleagues analyzed tissue samples from 127 patients with primary or recurrent malignant melanoma of all stages to evaluate the molecular profiling and correlate primary location of the disease with genetic mutations.

In total, researchers identified 218 mutations that affect 30 unique genes.

The total number of mutations per patient varied significantly by primary tumor location (P = .002).

Patients with tumors located on the head and neck had the highest mutation burden (2.04 mutations per patient), followed by truncal site mutations (1.87 mutations per patient).

The most prevalent mutations in head and neck cancer included BRAF (34.8%) and TP53 (34.8%) genes, whereas truncal sites most often included BRAF (41%) and NRAS (39.5%) gene mutations.

Mucosal tumors appeared to have the lowest mean number of mutations (0.4 mutations per patient), with mutations only in TP53 (40%).

BRAF, NRAS and TP53 genes were the most prevalent mutations across all sites; however, no specific mutations were significantly associated with tumor location, despite higher rates

of TP53 mutations in mucosal and head and neck tumors (P = .06).

“These preliminary findings warrant further investigation with a larger sample size and inclusion of more prognostic parameters,” Lou and colleagues wrote. – by Kristie L. Kahl

Reference:

Lou J, et al. Molecular profiling and primary location of melanoma: Experience at an NCI-designated cancer center. Presented at: HemOnc Today Melanoma and Cutaneous Malignancies; March 24-25, 2017; New York.

Disclosures: HemOnc Today could not confirm financial disclosures at the time of reporting.