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The team identifies genetic markers associated with aggressive childhood cancer




In an international study involving Newcastle University in the United Kingdom, genetic markers were first discovered in tumors in patients with high-risk neuroblastoma.

Studies published in Journal of Clinical Oncology, Changes in neuroblastoma ALK The (Undifferentiated Lymphoma Kinase) gene is associated with a significantly poorer prognosis in children with high-risk disease.

Experts say that identifying this important genetic marker means that the patient should be worn. ALK Inhibitor at diagnosis in anticipation of treatment.

Personalized treatment

Professor Deborah Tweddle, Newcastle University Cancer Center and Honorary Consultant, Newcastle Hospital NHS Foundation Trust, led the study in the United Kingdom.

She said: “By identifying ALK As a genetic marker associated with poor outcomes within a group of high-risk patients, it means that these patients can be treated differently than they were initially.

“The most exciting thing is ALK The protein itself has been used in other cancers and is now available for patients with high-risk neuroblastoma. ALK Genetic abnormality.

“This study is an excellent example of personalized medicine. By treating these patients, ALK Genetic abnormality with ALK Inhibitors tailor treatment to the patient’s individual tumor type.

ALK Inhibitors with other therapies we are currently doing for high-risk neuroblastoma hope to be able to treat more patients with this advanced childhood cancer. “

Neuroblastoma is a cancer of the nervous system that mainly affects children under the age of five. It often begins in the adrenal glands, but at diagnosis, about half of the cases are systemic. In these high-risk cases, the survival rate is only about 50 percent.

Sadly, despite treatments such as high-dose chemotherapy, surgery, radiation therapy, and immunotherapy, few children live more than five years after diagnosis.

Several European countries have participated in the study, and the UK testing department is based at Newcastle University, runs within the Newcastle Institute for Genetics, and is funded by Solving Kids Cancer and Neuroblastoma UK.

Survey results

Conducted by experts ALK We tested as many neuroblastomas as possible from patients treated with high-risk trials and pooled this data with data from national genetic reference laboratories in 19 other countries.

Studies have shown that ALK Mutations are present in about 14% of newly diagnosed patients with high-risk neuroblastoma, and nearly 4% have amplification of this gene.

More importantly, these abnormalities are associated with reduced survival and are important prognostic markers that may be the target of treatment.

Professor Tweddle said: “As part of the next European clinical trial for high-risk neuroblastoma, all patients ALK Abnormalities found in their tumors ALK Inhibitors in addition to standard treatment. “

A milestone is the launch of the Newcastle University Cancer Fund. This is a new funding campaign to encourage the next generation of cancer researchers to train and work in Newcastle for the benefit of those living with cancer locally and to send their research around the world.

The fund works with cancer researchers very early in the study and confirms them until they become established cancer researchers.

Patient case study

A happy schoolboy, Alexander Mohammed lives a fulfilling life as he enjoys fishing and outdoor activities with his family.

But five years ago, a young Gosforth in Newcastle received a catastrophic diagnosis of neuroblastoma, so that was a very different story.

For almost two years, Alexander received intensive care at the Great North Children’s Hospital in Newcastle, including many aggressive cycles of chemotherapy.

The 10-year-old child is currently in remission and is monitored every 6 months under the supervision of Professor Deborah Tweddle.

Dr. Alexander’s father, Rafael, 43, said:

“It was hard to see him receiving intensive care, but he’s so brave and he’s been in remission for four years, so it’s great to see how well he’s doing now.

“Listening to this great advance in the treatment of conditions for children provides real hope for future personalized treatment options so that more young people can save their lives. “

reference: Effects of ALK amplification and mutation frequency and prognosis in the high-risk neuroblastoma trial (HR-NBL1) of Bellini A, Pötschger U, Bernard V, and other European Neuroblastoma Research Group (SIOPEN). JCO.. 2021: JCO.21.00086. Doi: 10.1200 / JCO.21.00086

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