Groundbreaking Blood Test Detects Tumors Early in High-Risk Families

Li-Fraumeni syndrome (LFS) is a hereditary genetic disorder that comes with an almost certain risk of developing cancer at some point in life. The condition is due to mutations in the TP53 gene, which is responsible for making a protein that acts as a sort of "genome protector" by inhibiting tumor development. People with LFS are susceptible to developing a variety of cancers, affecting organs like the breast, soft tissues, and brain, among others. For kids who have LFS, frequent visits to healthcare facilities for yearly brain and full-body MRIs, along with regular blood draws, ultrasounds, and physical check-ups, are crucial for early cancer detection. However, these frequent tests can be both stressful for families and taxing on the healthcare system. Now, a simple blood test can accurately identify when and sometimes even where cancer is developing.

Researchers from The Hospital for Sick Children (Toronto, ON, Canada) have developed a more effective way to detect early stages of cancer in LFS patients, using a method called "liquid biopsy." This method examines DNA fragments in blood samples that are shed by cancer cells. The team examined 170 blood samples collected from 82 people with LFS over multiple years. Their results revealed that early signs of leukemia were evident in a patient several months before any visible tumor or symptoms appeared. This provides a proof-of-principle framework that could support the detection of cancers in their early stages in people with LFS and possibly others.

The findings of this study could eventually eliminate the need for the myriad of tests currently required, while simultaneously increasing the accuracy and specificity of cancer diagnoses. In the upcoming months, a clinical trial will be carried out to further examine this new approach. The trial aims to discover cancers earlier and will involve individuals who have different kinds of cancer-prone genetic syndromes, including LFS, Lynch syndrome, neurofibromatosis, and hereditary breast and ovarian cancer.

“These promising findings can be extended to all hereditary cancer syndromes to help improve the accuracy of cancer detection, especially for common tumour types, utilizing several types of analyses that leverage different biological measurements,” said Dr. David Malkin, Senior Staff Oncologist and Senior Scientist who led the study at SickKids.

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The Hospital for Sick Children