UT Health San Antonio physician-researcher contributes to international screening guidelines for rare pediatric cancers

Erase Cancer

SAN ANTONIO (Aug. 2, 2017) ―Approximately 10 percent of childhood cancer can be attributed to genetics. While genomic analysis has been used for some time to identify the risk of inherited cancer in adults, scientists are now using genomic analysis to identify genetic risk factors and to diagnose cancer at an early age in children.

“We are now able to detect which children are most at risk of developing rare pediatric cancers and identify cancers that may have been developing even before the child was born, said Gail Tomlinson, M.D., Ph.D., of UT Health San Antonio. She is professor and interim chair of the Department of Pediatrics, director of the Division of Pediatric Hematology-Oncology, and a member of the Greehey Children’s Cancer Research Institute and UT Health Cancer Center.

Dr. Tomlinson is part of a panel of researchers selected by the American Association of Cancer Research to determine ― for the first time ― international pediatric cancer screening guidelines for more than 50 of the most common syndromes that can develop into pediatric cancer. Dr. Tomlinson contributed to four of the 18 papers being published this summer and fall in the American Association of Cancer Research’s journal, Clinical Cancer Research. The series of pediatric cancer screening articles are freely accessible to the public and represent the first comprehensive summary of cancer genetic risks in children.

“Because cancer in children is rare, it’s not practical to screen all children. If parents know of relatives who have had multiple pediatric cancers or very early onset adult cancers, or if we see birth defects in children that are associated with cancer syndromes, genomic analysis can be an excellent risk factor and diagnostic tool. Without it, we might not diagnose cancer until it has not only developed but has spread and is much more difficult to treat,” Dr. Tomlinson said.

One of her papers in the Clinical Cancer Research series is “Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma.” Overgrowth syndromes are a group of disorders in which an organ grows much faster than normal and has an increased chance of developing into an embryonic tumor.

One of the most common overgrowth syndromes is Beckwith-Wiedmann syndrome, recognizable by physical abnormalities at birth. The syndrome predisposes affected children to the possibility of developing a pediatric kidney cancer called Wilms Tumor and to hepatoblastoma, the most common form of liver cancer in children. Other syndromes, such as Perlman syndrome, Trisomy 18, WT1-related syndromes, WAGR syndrome, Denys-Drash Syndrome and Frasier Syndrome, also are discussed in the paper.

The series also addresses syndromes associated with leukemias and bone marrow disorders, endocrine tumors, and other congenital anomalies which may signal a concern for cancer development.

“Our hope is that by following these evidence-based, pediatric cancer screening guidelines that have been vetted by international experts, doctors will be able to determine which children are at risk so that cancer is found much earlier, when there is a better chance for survival.” Dr. Tomlinson said.

The three other papers to which Dr. Tomlinson contributed include:

Von Hippel-Lindau Disease and Hereditary Pheochromocytoma/Paraganglioma Syndromes: Clinical Feature, Genetics and Surveillance Recommendations in Childhood;

Multiple Endocrine Neoplasia and Hyperparathyroid-Jaw Tumor Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood; and

Cancer Screening Guidelines and Clinical Management of Inherited Gastrointestinal Cancer Syndromes in Childhood.

Through a UT Health clinical partnership, Dr. Tomlinson conducts genetic screenings and provides cancer surveillance for children at high risk of developing cancer at the Pediatric Hematology-Oncology Clinic at University Hospital. Visit http://pediatrics.uthscsa.edu/hem-onc/programs_genetics.asp or call (210) 743-2300 for more information.

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