Genetics Sheds Light on Cancer Risk

By Shelly Weiss McQuaid and Vera Shively

A young girl was referred to Lurie Children's for surgery after her pediatrician felt a mass in her abdomen during a routine checkup. The mass and her left kidney were removed. Further study of the mass in the laboratory revealed it was a cystic nephroma, a rare, non-cancerous (benign), kidney tumor.

Genetic Testing of Tumors

Many tumor samples at Lurie Children’s are sent for genetic testing. Genes are made of DNA sequences that carry the instructions for how the body works and develops. Changes in the DNA sequence of certain genes can lead to the formation of a tumor. Genetic testing in tumor cells looks to identify those gene changes. Results often give the patient's healthcare team important information about the tumor and may help guide treatment plans. Sometimes further genetic testing is done on a blood sample from the patient.

In this story, a sample of the child’s tumor was tested. The results identified changes in the DICER1 gene. Researchers have linked certain changes in this gene to cystic nephroma. Based on this genetic test result, the patient was referred to the Cancer Predisposition Program for further evaluation and counseling.

A Home for Pediatric Cancer Patients and Families

Lurie Children’s Cancer Predisposition Program is unique and provides comprehensive services that go beyond the genetic testing of tumors. Patients and their families will meet with a genetic counselor, social worker, and oncologist (a cancer doctor). Families are given a personalized cancer risk assessment, and guidance for genetic testing and medical management.

For our patient, the genetic counselor collected a detailed family history, noting that several family members had their thyroids removed as young adults due to multiple lumps in the thyroid. The combination of thyroid lumps and cystic nephroma was concerning for a genetic syndrome leading to these health issues.

Some patients have DICER1 gene changes that they were not born with but developed only in their tumor cells. Rare patients have DICER1 gene changes that they were born with and are present in all the cells of their body. This is referred to as a germline gene change. These patients have a cancer predisposition syndrome, a genetic condition associated with an increased risk for developing tumors and other potential health problems.

Genetic Diagnosis Changes Healthcare Management for Family

Based on the family history, the girl was recommended to have additional germline (blood) genetic testing for the DICER1 gene change identified in the tumor cells. It revealed that she had the same DICER1 gene change in her blood cells, consistent with a diagnosis of DICER1 syndrome which is characterized by increased risks of a variety of cancerous and benign tumors. Risks for certain tumors are greatest in early childhood and surveillance recommendations start at birth. The length of time between surveillance is adjusted based on the patient's age.

Two family members were also found to carry the DICER1 gene change and received personalized management plans. While the tumor diagnosis, and then genetic diagnosis, were unexpected, the family used the information to take control of their healthcare. With support from the Cancer Predisposition Program families move forward with their lives, empowered by knowledge.

The Importance of Patient Registries

Researchers have reported many changes in the DICER1 gene from various tumor samples. To learn more about how DICER1 gene changes can affect a person’s health and lead to tumor development and growth, an international patient registry has been established. Patient registries follow the health outcomes of patients and families affected by a particular condition. Most patient registries collect patient health information anonymously so participating in a registry does not mean your personal identify is shared. Registries can be a very valuable tool for rare disease research and treatment development. Lurie Children’s has on-going patient registries for many rare conditions and will soon be a site for the International DICER1 Registry.

Additional Resources

• The International Pleuropulmonary Blastoma/DICER1 Registry
• Dicer1 syndrome: MedlinePlus

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