CHICAGO — In this exclusive video from NASPGHAN 2019, Hassan M. Abdullah, MD, from the Rainbow Babies and Children’s Hospital in Cleveland, Ohio, discusses details from his poster presentation on the correlation between adenomatous polyposis coli gene mutations with pediatric hepatoblastoma.
“Hepatoblastoma is a cancer that is diagnosed in early infancy, in most cases in patients under 4 years of age, and we feel that it can be the ‘tip of the iceberg’ or the first sign of various [adenomatous polyposis coli (APC)]-related tumors that can happen over a lifetime,” Adbullah told Healio Gastroenterology and Liver Disease.
In the case study, the patient presented with hepatoblastoma at age 1 year. The researchers found that several family members eventually showed signs of APC mutations in cases of colon cancer and desmoid tumors.
“Whenever hepatoblastoma is diagnosed in early years, it’s an opportunity to do APC mutation testing. If it’s tested and detected at that time, we can predict or work up more aggressively any concern for other tumors,” Adbullah said. “This is a rare condition to begin with. Case reports can be helpful to gather our experiences as a community to help form guidelines of screening, preventive measures and better management of these families.”
Reference: Abdullah HM, Khalili AS. Hepatoblastoma of infancy: tip of the iceberg with ACP gene mutation. Presented at: NASPGHAN 2019; October 17-29, 2019; Chicago.
Disclosure: Abdullah reports no relevant financial disclosures.