In India alone, there are over 50,000 new cases of childhood cancer each year (1) Childhood cancers, although rare, can significantly impact families and communities. Among children and adolescents, the most common types of cancer are leukaemias (Blood cancer), Brain tumours, neuroblastoma, kidney tumours, malignant soft tissue, and bone tumours. However, Dr Kunjal Patel, Molecular Oncopathologist at Neuberg Centre for GenomicMedicine, identified environmental factors that cause childhood cancer has been challenging, primarily due to the rarity of childhood cancer and the difficulty in determining early developmental exposures of children.
Preventive Measures
Regarding preventive measures, maternal folate consumption has been associated with reduced risks of leukaemia and brain tumours in children. Breastfed and exposure to common childhood infections are linked to a reduced risk of childhood leukaemia.
Timely detection and treatment are critical for enhancing survival rates and outcomes among children with cancer. For example, for diffuse intrinsic pontine glioma, 50% of affected children survive less than one year after diagnosis, and only 10% survive two years after diagnosis.
Soft Tissue Sarcoma
Soft tissue sarcoma survival rates for children and adolescents aged 0 to 19 years vary between 60% (rhabdomyosarcoma) and 70% (soft tissue and other extraosseous sarcomas) at five years. 5-year survival in Acute lymphoblastic leukaemia is 80-90% for children younger than 15.
As more is learned about the genetics of pediatric cancers, genetic testing will likely play an even more significant role in improving outcomes and decreasing the burden on the healthcare system and families affected by these diseases.
Genetic Testing
It is a process that involves examining a person's DNA to detect genetic alterations or mutations that may indicate an elevated likelihood of developing cancer. Specifically, in childhood cancers, genetic testing can uncover certain pediatric cancers. For example, genetic testing may reveal a gene mutation associated with a higher risk of developing a specific type of childhood cancer, which can lead to early detection.
An instance is a retinoblastoma, a kind of childhood cancer that occurs primarily in the eye. In addition, approximately 45% of children inherit a harmful variation in the RB1 gene from one of their parents. This information can support the diagnosis process, inform treatment decisions, and aid in long-term disease management.
Critical Advantages
One of the critical advantages of genetic testing is its ability to identify cancers early when they are more treatable and have a better prognosis. For instance, genetic mutations (Precision medicine) can indicate that a child is likely to respond well to specific treatments in blood cancer to imatinib targeted therapy.
This information helps doctors choose the most appropriate and effective treatment for each patient, improving outcomes and minimizing side effects. In addition, genetic tests play a vital role in monitoring the disease burden and graft rejection after Bone marrow transplant in blood cancer.
Conclusion
Genetic testing is an essential tool for the early detection and diagnosis of childhood cancers. For example, the risk of leukaemia is 10 to 20 times higher among children with Down syndrome than those without the condition. Genetic testing can provide valuable information for families to consider in future planning.
Furthermore, if a genetic mutation is found in a child, parents may choose to undergo genetic testing to determine their own risk of carrying the mutation. By identifying these families, doctors and genetic counsellors can provide them with information and resources to help manage their risk and improve outcomes.
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