St. Jude Children’s Research Hospital has recently announced that its team of scientists have established a registry for pediatric melanoma. The goal is to use data from this registry for molecular analysis that could reveal more information about treatment approaches. While melanoma is the most common form of skin cancer, it is very rare in children, with only about 400 pediatric cases identified annually in the US.
Melanoma is a form of skin cancer that develops from pigment cells, which are called melanocytes. This cancer also less commonly affects the eyes, intestines, or mouth. They often appear on the legs of females and the backs of males and develop from atypical moles in some cases. The cause of this skin cancer can be traced to DNA damage as a result of UV radiation as well as certain genetic characteristics. Signs and symptoms include changes in the color or shape of a mole or the appearance of a lump on the skin. Moles may itch or bleed in later stages. In metastatic disease, symptoms such as fatigue, appetite loss, vomiting, and nausea may appear. This cancer may be treated in a variety of ways, such as surgery, radiation, chemotherapy, immunotherapy, and targeted therapies. Rates of this disease are increasing and it is most common in areas with predominantly white European populations. To learn more about melanoma, click here.
The registry is called Molecular Analysis of Childhood MELanocytic Tumors (MACMEL). Ongoing research at St. Jude–Washington University Pediatric Cancer Genome Project has revealed that pediatric melanoma is more than just a single disease. It has instead been divided into three different subgroups:
- Conventional melanoma: This type resembles the cancer that appears in adults and most commonly affects teens. TERT and BRAF promoter mutations are common and the timing of diagnosis can be critical in determining outcomes.
- Spitz melanoma/atypical spitz tumors: Most of the youngest patients have this type of melanoma. Copy number alterations are characteristic and there are also kinase fusions impacting BRAF, MET, MAP3K8, ALK, NTRK, RET, and ROS1. The scientists found that spitz tumors without TERT mutations are benign.
- Giant congenital nevus melanoma: This is an aggressive form characterized by TERT upregulation and NRAS mutations. All diagnosed patients ultimately died from this form.
This registry will play a vital role in understanding the natural history of pediatric melanoma. Findings so far reveal just how varied these tumors can be:
“Some patients need drastic measures. For many others, masterful watching is the best option.” – Armita Bahrami, last author
The registry first began registering patients in 2016 and will be a valuable resource for treating pediatric melanoma in the future.