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July 07 ,  2020

Genetic testing can provide solutions to childhood cancers

with less obvious symptoms

Doctors advise parents to stay alertwhite reflection in the eyes may turn out to be a cancer symptom

While it is commonly perceived that cancer is an “adult’s disease”, the truth is that cancer can occur at any age. Statistics from Childhood Cancer Foundation of R.O.C. showed that averagely 1.5 children are diagnosed with cancer every day in Taiwan. Since the symptoms of children are not obvious as adults, the timing when cancer are diagnosed often at late stage, missing the golden opportunity to be treated early. With medical advances today, are there ways to help newborns with genetic defects?

Gene mutations that lead to cancer; the challenge of detecting childhood cancer early
Sometimes, common cancers that develop in adults, such as colorectal cancer, breast cancer and lung cancer, are occurred later in life. Childhood cancers, on the other hand, mostly occur due to inherited predisposition and genes. Some newborns are diagnosed with cancer, possibly because they inherited oncogenes from parents or because gene mutations occurred for the mother during pregnancy.

Childhood Cancer Foundation of R.O.C. statistics showed that the top five most common types of childhood cancers in Taiwan are leukemia (34.9%), central nervous system cancer (20.1%), lymphoma (9.2%), osteosarcoma (7%) and neuroblastoma (6.2%). The symptoms of childhood cancers are more difficult to detect because children may express their discomfort as crying and screaming. When cancer is detected, it is often too late. Therefore, it is important for parents to stay alert and bring their children to the doctor when they suspect something is wrong.

Parents are advised to take children for checks when their pupils appear white
When Hsiao-Hsin (曉馨) was brought to the hospital for a cold at the age of two, the doctor noticed her pupils appeared white like cat’s eyes, and she was later diagnosed with retinoblastoma. As the tumor grew quickly, despite their reluctance, Hsiao-Hsin’s parents had no choice but agreed to doctor’s advice to remove her left eye with a prosthetic eye. Chemotherapy was used to control tumor in Hsiao-Hsin’s right eye.

Though one of Hsiao-Hsin’s eyes were kept intact, learning became extremely hard for her. She encountered difficulties in socializing with others and had to endure being treated differently. Director of Dianthus Pediatric Clinic Jun-Ho Wu (吳俊厚) pointed out that the earlier retinoblastoma can be detected, the better outcome of the treatment would be. Retinoblastoma might occur as early as the embryo stage but the symptoms are less obvious. Most patients are diagnosed in the late stage of the disease and have to remove their eyes. Similar genetic defects will cause irreversible impact on children.

Shedding light on precision medicine for childhood cancer
Dr. Wu said that there were parents came for genetic testing consultation since their firstborn was diagnosed with cancer and they wanted to prevent the same thing happening again if they are planning to have a second child. With the advances in medication and treatment, the success rate of childhood cancers has become much higher than adult cancers. However, early treatment or efforts to reduce severe symptoms are possible if the disease can be detected early through genetic testing.

Dr. Chia-Cheng Hung (洪加政), who received a doctoral degree from Graduate Institute of Medical Genomics and Proteomics of National Taiwan University, added that currently there are companies that have developed genetic testing for newborns, including testing for childhood cancers. Simple blood samples can be used to test as many as 208 genes and 200 diseases, including eight rare childhood cancers that were difficult to be tested in the past. In just 10 to 15 days, parents can learn about the health of their children and the results can benefit them for a lifetime.

Dr. Wu added that while the newborn disease screening tests offered by the Health Promotion Administration help, it will be more beneficial for parents to do genetic testing at the same time. Test results can be used to help diagnosis if there are any genetic defects and make parents more reassured. If a child has already developed obvious symptoms, genetic testing can also be used to identify the cause. Meanwhile, he encouraged new parents not to be afraid to find out the health of their children. Earlier detection of these symptoms, the earlier treatment could be launched.