What are ALK mutations in neuroblastoma?

ALK (anaplastic lymphoma kinase) mutations are changes in a gene called ALK that can affect how neuroblastoma cells grow. The ALK gene normally helps control the development of nerve cells. In a small number of children with neuroblastoma, this gene becomes altered (mutated), which can make cancer cells grow more quickly or behave differently.

ALK mutations are uncommon in newly diagnosed neuroblastoma, but they are one of the more frequently seen genetic changes. They occur in a small proportion of cases and can happen in low-risk, intermediate-risk and high-risk disease, although they are more often linked to high-risk neuroblastoma.

Why do doctors test for ALK mutations? 

Testing tumour samples for ALK changes can help doctors understand more about how the cancer is behaving. 

This information can be useful for: 

• diagnosis and risk-grouping 
• understanding how the tumour might respond to treatment 
• considering targeted treatment options 
  

Can ALK mutations be treated? 

Yes. There are medicines called ALK inhibitors that specifically target cells with ALK mutations. These medicines are a type of targeted therapy, and doctors may offer them: 

• in certain clinical trials, or 
• if your child’s tumour has specific ALK changes that may respond to these drugs.

Your child’s doctor will explain if ALK targeted treatment is an option and what it would involve. 

Are ALK mutations inherited? 

In most children, ALK mutations happen only in the tumour and are not inherited. 
Very rarely, ALK mutations can be passed down in families. If this is suspected, your child’s team will talk to you about whether genetic counselling or testing is recommended. 

What does this mean for my child? 

An ALK mutation is just one piece of information about your child’s tumour. 
Doctors consider many factors, including stage, risk group, age, and other genetic features when planning treatment. Your child’s medical team will explain what the ALK result means for your child’s particular situation.