Childhood Cancer Neuroblastoma Gene Discovered - The ALK Gene

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Neuroblastoma is a cancer that affects nervous tissue, usually of the adrenal glands, neck, chest and spinal cord. It accounts for 7% of all cancers experienced in early childhood and 15% of all childhood cancer deaths.


Scientists at The Children’s Hospital of Philadelphia have studied inherited neuroblastoma for the past 15 years. In this latest research they used high-speed, automated analytic equipment to analyze the DNA from 10 well-documented families with a history of neuroblastoma. Dr.Y.P.Mosse led the study, which was published in the prestigious scientific journal Nature.

Mossé and colleagues were able to find that an abnormality on a region of chromosome 2 was associated with the disease. Further studies of that specific region found the mutations in the anaplastic lymphoma kinase (ALK) gene in eight families with inherited neuroblastoma.

One of the study’s lead authors, John M. Maris commented on the significance of the findings on the hospital’s own website. “This is a very important discovery, as it not only helps us understand the genetic roots of this terrible disease, but also has led to dramatically new ideas for curative therapy.”

ALK gene

It appears that the ALK gene acts as an oncogene, that is a cancer-causing gene. Mutations in the ALK gene switch “on” a signal for neuroblastoma cell development. The discovery that the ALK is responsible for neuroblastoma development is a giant step toward finding appropriate treatment for this genetic disorder. In fact, many pharmaceutical companies have been working on ALK inhibitors, that is, compounds that inhibit the ALK protein’s activity.

Many ALK inhibitors are already in clinical trials for adults because the same gene is suspected to have implications on other types of cancers such as lung cancer and lymphoma. Mossé and collaborators are planning pediatric clinical trials of ALK inhibitors in children with high-risk neuroblastoma now that they now that the ALK gene is responsible for the disease.

Early diagnosis and treatment

Of immediate benefit will be testing for early signs of the disease. Finding that the ALK gene is responsible means that scientists now know exactly what they are looking for. ALK mutations can be spotted by non-invasive techniques; ultrasound or a simple urine test.

As knowledge of the genetic basis of neuroblastoma increases, tailored treatment programs could be offered to children based on their own specific genetic profile.

This post is part of the series: New Genetic Research

Find out what is new on the genetic research frontier. New genetic research. New Diseases discovered with genetic basis. Genetic abnormalities that cause genetic diseases. Mutations in genes related to diseases

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  3. Genes Identified In Infantile Hemangioma, The Most Common Childhood Tumor
  4. Gene Discovered for Anencephaly, a Fatal Birth Defect
  5. Childhood Cancer Neuroblastoma Gene Discovered
  6. Genes Linked to Lung Cancer Adenocarcinoma Discovered
  7. The Genographic Project
  8. Gene Therapy for Cancer