Charis Eng, M.D., Ph.D., chair of Cleveland Clinic’s Genomic Medicine Institute and co-founder of Family Care Path, Inc., has recently reported study results demonstrating the importance of genetics evaluation and genetic testing for children, adolescents and young adults with solid tumor cancers. 

Significance of the Study

A Cleveland Clinic News Release cites that solid tumors account for half of the cancer cases in children, adolescent and young adult (C-AYA) patients.  The majority of these cases are assumed to result from germline variants (heritable changes), however little is known about the frequency and implications.  C-AYA solid tumors are considered difficult to treat because the majority of available targeted therapies are geared to adult patients. Identifying germline altered genes that are targetable offers an opportunity to identify the utilization of FDA-approved targeted therapies to expand treatment options.  

Prominent Study Results 

Dr. Eng and other researchers utilized a combined dataset from the Cleveland Clinic and St. Jude Children’s Research Hospital to conduct the largest-to-date evaluation of germline mutations in C-AYA patients with solid tumors. This study of 1,507 patients was published on May 5, 2020, in Nature Communications

Study analysis highlights the necessity for all C-AYA patients with solid tumors to be sent for genetics evaluation and gene testing.  Additionally, the study revealed the germline as a therapeutic consideration finding, as explained by Dr. Eng, “that a significant number of the germline altered genes in C-AYA solid tumor cancers are targetable by FDA-approved drugs.”

Hope for the Future

These study results present an opportunity to identify therapeutic options for approximately one-third of C-AYA patients through drug repurposing that would previously have been unidentified in routine clinical care.

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