Spitzoid melanoma is a specific morphologic variant of melanoma that most commonly affects children and adolescents, and ranges on the spectrum of malignancy from low grade to overtly malignant. These tumors are generally driven by fusions of ALK, RET, NTRK1/3, MET, ROS1 and BRAF1,2. However, in approximately 50% of cases no genetic driver has been established.
A team led by St. Jude Children's Research Hospital has demonstrated the potential to use clinical genome sequencing to treat Spitzoid-type melanoma.
The study involved an 11-year-old boy with locally recurrent spitzoid melanoma who had previously tried traditional treatments but had poor results. The researchers collected clinical samples, performed whole-genome, exome, and RNA sequencing, and found MAP3K8 gene fusion, which encodes a serine-threonine kinase that activates MEK3.
The researchers then used RNA sequencing to evaluate 51 samples from another 49 patients with spitzoid-like melanoma. They found a fusion associated with MAP3K8 in almost one-third of cases. They pointed out that each fusion involves the substitution or truncation of self-inhibiting exons in MAP3K8 .
"The disruption of MAP3K8 leads to deletion or replacement of exons, which is the most common change in 49 cases," the authors said. "Rearrangement has been found in atypical Spitz tumors and spitzoid melanoma cases, as with other mutations or fusions, these rearrangements may also occur in benign nevi."
Based on these findings, the authors note that "MAP3K8 rearrangement is the most common genetic event in spitzoid-type melanoma and is also present in adult melanoma and may be suitable for the treatment of MEK inhibitors."
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