Study Finds Genetic Marker for High-Risk Neuroblastoma

For the first time, a research study has discovered a genetic marker related to high-risk neuroblastoma. According to Medical XPress, researchers determined that anaplastic lymphoma kinase (ALK) gene mutations and amplifications are related to worse patient outcomes. However, this means that patients with this genetic marker could receive more targeted treatments, such as ALK inhibitors, which could ultimately improve their outcomes. Take a look at the study findings published in the Journal of Clinical Oncology.

ALK Gene

Altogether, researchers made this determination in the European Neuroblastoma Study Group (SIOPEN) High-Risk Neuroblastoma Trial (HR-NBL1). Tumor samples were sourced from a total of 1,092 patients. First, researchers within the UK performed ALK testing on neuroblastoma tumors. Later, this data was combined with other data from genetic reference labs in 19 countries. Ultimately, researchers determined that:

  • 14% of patients with newly diagnosed high-risk neuroblastoma had ALK gene mutations.
  • Additionally, 4% of patients had gene amplification, or the multiple replication of copies within a gene sequence.
  • Both genetic mutations and amplification were linked to worse prognosis and lower survival rates.

Unfortunately, neuroblastoma already has a decently poor prognosis, with many patients diagnosed under age 5 and living for less than 5 years following diagnosis – even with treatment. Thus, being able to treat high-risk patients with ALK inhibitors could be a huge step forward within this treatment realm.

According to Professor Deborah Tweddle of the Newcastle University Center for Cancer, treating patients using ALK inhibitors not only allows for more personalized and targeted treatment but could be combined with other therapies (such as chemotherapy or radiation) to improve outcomes.

The Newcastle University Cancer Fund will also work to improve neuroblastoma research. For example, the Fund will contribute to the development of a clinical trial designed to treat patients with high-risk neuroblastoma with ALK inhibitors. During the trial, researchers will explore the efficacy of ALK inhibitors in conjunction with the current standard of care.


Neuroblastoma is a rare and aggressive cancer which typically affects children, particularly those ages 5 or younger. The cancer forms in neuroblasts, or immature nerve cells in tissue. Normally, these neuroblasts either mature or disappear prior to birth. However, in these diagnoses, the cells instead form into tumors. In many cases, neuroblastoma begins within the adrenal glands. But tumors may also appear in the chest, neck, abdomen, pelvis, or near the spine. Altogether, neuroblastoma is slightly more common in males than in females.

Symptoms vary depending on the affected area of the body. Some symptoms include:

  • A lump or mass under the skin, especially one which appears in one of the above areas
  • Fever
  • Bone pain
  • Bulging eyes
  • Dark circles around the eyes
  • Painless, bluish lumps under the skin (in infants)
  • Abdominal distension / abdominal swelling (in infants)
  • Difficulty breathing (in infants)
  • Weakness or paralysis
  • Changes in bowel habits
  • Irritability
  • Easy bruising and bleeding
  • Unintended weight loss

Learn more about neuroblastoma.

Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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