Genomic testing of a single patient reveals a gene commonly mutated in pediatric melanoma

Source: Eurek Alert, March 2019

Comprehensive clinical genomic testing of an adolescent patient, including whole genome sequencing, helped researchers identify mutations in a single gene that drive the most common childhood melanoma. The St. Jude Children’s Research Hospital study appears as an advance online publication today in the journal Nature Medicine.

Further research found that 33 percent of young people with spitzoid melanoma screened in this study carried novel mutations, including rearrangements, in the same gene, MAP3K8. Analogous mutations were also found in 1.5 percent of the almost 500 adult melanoma patients tested. Spitzoid melanoma occurs in children and adults, but it is the most common pediatric melanoma.

Researchers also reported evidence that patients with the MAP3K8 mutations may be candidates for precision medicines. The initial patient in this study had a short-lived response to a precision medicine that targeted a gene deregulated by the mutated MAP3K8.