Spitzoid melanoma with ALK copy number gain

Summary

Spitzoid melanoma is an uncommon melanoma (type of skin cancer) that can occur at any age, and can resemble a harmless mole called a 'Spitz nevus'. This similarity can make it difficult to diagnose. Spitzoid tumours (Spitz nevi) have recently begun to be categorized according to their genetic profile, meaning the genes found in them, and certain molecular alterations were found to link to changes to the structure of the nevus as could be seen when examined under a microscope. For example, Spitz tumours can have what is called an anaplastic lymphoma kinase (ALK) gene rearrangement. ALK is a gene that tells your body how to make proteins that help cells talk to each other. ALK rearrangement means that part of this gene is broken and attached to another gene. Spitz tumours with ALK rearrangement have been shown to have a distinctive "plexiform pattern". Humans have two copies of most genes, but occasionally alterations can lead to the gain or a loss of one copy. When it is a gain of one copy this is called copy gain. In this report, authors from the US discuss a case of an 87‐year‐old man with a 3cm tumour on his back, and conclude that ALK copy gain represents an additional mechanism of ALK activation among Spitzoid tumours and shows the same plexiform pattern seen among ALK‐rearranged Spitz tumours.

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