Pediatric cancer predisposition syndromes

Abstract

It has been reported that nearly 10% of children with cancer potentially have germline pathogenic variants of cancer predisposition genes. With the recent widespread use of multiple gene panels, the number of patients diagnosed as having such variants will increase. Clinical management strategies based on their diagnoses, such as molecular-targeted therapy and surveillance, are expected to improve their chances of survival. However, being diagnosed to have a predisposition to cancer can place a psychological burden on patients and their family members and negatively impact their life events. In addition, the cost of germline genetic testing and surveillance is not covered by health insurance in most cases here in Japan. In this paper, we review the current issues in medical care for pediatric patients with cancer predisposition, along with the results of a questionnaire survey about the medical condition of patients in hospitals accredited by the Japanese Society of Pediatric Hematology/Oncology. To provide better care for children with cancer predisposition in Japan, improvements to the medical system, including insurance coverage, counselling for patients and their families, establishment of a case registry, and clinical evidence for the efficacy of surveillance, are required.