Discovering how a rare cancer grows: SickKids researchers uncover genetics behind adrenal gland cancer

Understanding rare cancers has always been a challenge for scientists, primarily because the patient populations are so small. This had been true for a rare cancer of the adrenal gland called adrenocortical carcinoma… until now.   

Through international teamwork, researchers at The Hospital for Sick Children (SickKids) led the largest genetic analysis of children with adrenocortical cancer, a rare cancer which occurs predominantly in infants and young children and in adults over 60 years old. In a Children’s Oncology Group trial, published as an Early Release Article in the Journal of Clinical Oncology, the researchers studied 88 patients from across North America and Brazil.  The research team found that 50 per cent of children with this cancer carry an inherited change in the P53 gene, which normally functions to suppress tumour formation. The scientists were also able to link specific mutations in the P53 gene to their related functional changes in tumour cells.

“Through this analysis we were able to create a model to describe how the disease develops in the fetus and in the infant. By understanding how these tumours form and grow, we hope to open the door to exploring possible treatments and surveillance paradigms,” says Dr. Jonathan Wasserman, lead author of the paper and SickKids Project Investigator under the guidance of Dr. David Malkin, Senior Scientist.

Since patients carrying the altered P53 were found more likely to develop multiple tumours and have family members affected by cancer, Dr. Wasserman says this underlines the importance of genetic testing and follow-up clinical surveillance for affected patients and family members.  

Dr. Wasserman is also Staff Endocrinologist at SickKids and Assistant Professor in the Department of Paediatrics at the University of Toronto.      

The study was funded by SickKids Foundation, Canadian Institutes of Health Research and the National Cancer Institute at the National Institutes of Health, the American Lebanese Syrian Associated Charities of St. Jude Children’s Research Hospital, the Canadian Pediatric Endocrine Group, the Lawson Wilkins Pediatric Endocrine Society and Canadian Child Health Clinician Scientist Program.