Pediatric cancer predisposition syndromes in Costa Rica
This retrospective study of pediatric cancer predisposition syndromes in Costa Rica (2017–2021) identifies neurofibromatosis type 1 as the most prevalent condition and demonstrates that structured surveillance, particularly via MRI, enables the early detection of predominantly asymptomatic tumors like optic pathway gliomas, resulting in 100% short-term survival.
Original paper licensed under CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/). This is an AI-generated explanation of the paper below. It is not written or endorsed by the authors. For technical accuracy, refer to the original paper. Read full disclaimer
Some children are born with a hidden vulnerability in their genetic code, a subtle difference in the instructions that build their bodies. While most people carry a set of genetic instructions that function smoothly, a small number of children inherit specific changes that make them far more likely to develop tumors than their peers. Scientists call these conditions cancer predisposition syndromes. They are not diseases in themselves, but rather a state of heightened risk, where the body's natural defenses against uncontrolled cell growth are slightly weakened from the very beginning. Because the risk is known, doctors can watch these children closely, looking for the earliest signs of trouble before a tumor becomes dangerous. This approach relies on the idea that finding a problem early, while it is still small and manageable, leads to much better outcomes than waiting for symptoms to appear.
In Costa Rica, a team of researchers set out to understand how this reality plays out for the children under their care. They focused on the National Children's Hospital, the only major pediatric center in the country that sees patients from every province. Between 2017 and 2021, the team looked back through the medical records of hundreds of children who had been identified as having one of these genetic syndromes. Their goal was to see which conditions were most common, how often these children developed actual tumors, and whether the hospital's careful monitoring program was working.
The researchers reviewed the files of 264 children who had been referred for evaluation. After removing those whose records were incomplete or who had already been diagnosed with cancer before the study began, they analyzed the data from 218 patients. The group was diverse, with children ranging from infants to teenagers, and the majority lived in the central highlands of the country. When the team looked at the specific genetic conditions affecting these children, they found that three diagnoses stood out. The most common was a condition called neurofibromatosis type 1, which accounted for more than a quarter of all cases. The next most frequent were Noonan syndrome and Sotos syndrome. Together, these three conditions made up half of the entire group. The researchers noted that while some conditions appeared more often in boys and others in girls, the overall mix of patients reflected the general population.
The core of the study was to see what happened when these children were placed under a structured plan of regular check-ups. The medical team had been using specific tools, including magnetic resonance imaging, to scan the children's bodies for tumors that might not yet be causing any pain or other symptoms. Over the course of the study, eight children, representing a small fraction of the group, were found to have developed malignant tumors. The most common of these was a type of brain tumor known as an optic pathway glioma. Remarkably, five of the eight tumors found were this specific type. These tumors were detected quickly, usually within a year of starting the surveillance program, and most of the children had no symptoms at the time of discovery. Because the tumors were found so early, they could be managed effectively, often with observation or careful medication, rather than aggressive surgery.
Beyond the malignant tumors, the study also tracked benign growths, which are non-cancerous but still require attention. Nearly a third of the children had at least one of these growths. The most frequent were neurofibromas, soft tissue tumors that can appear on the skin or deeper in the body. While these are not cancer, they can cause pain or grow large enough to press on other organs, and in rare cases, they can turn into cancer. The medical team found that the majority of these growths were discovered through routine physical exams or imaging, and most were simply watched over time rather than removed immediately.
The results of this monitoring effort were striking. Throughout the entire five-year period, none of the children in the study died from their conditions, and none experienced a return of a tumor after it had been treated. This perfect survival rate suggests that the strategy of watching these children closely is highly effective. The researchers acknowledged that their numbers might be conservative, as the hospital likely sees more children with these conditions than are currently being referred for this specific type of specialized care. They also noted that genetic testing, which confirms the exact mutation in a child's DNA, was only available for about a third of the patients, highlighting a gap in resources that the country hopes to fill.
This study provides the first clear picture of cancer predisposition syndromes in Costa Rica. It confirms that the most common condition is neurofibromatosis type 1 and that the most frequent cancer found through screening is a brain tumor affecting the optic nerves. The findings demonstrate that a dedicated program of regular surveillance allows doctors to catch these tumors early, often before they cause any harm. By identifying the specific patterns of disease in this population, the researchers have laid the groundwork for better care, ensuring that children with these genetic vulnerabilities receive the close attention they need to stay healthy.
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