Proportion of children with cancer that have an indication for genetic counseling and testing based on the cancer type irrespective of other features

In children with cancer, specific clinical features such as physical anomalies, occurrence of cancer in young relatives, specific cancer histologies, and unique mutation/methylation signatures may indicate the presence of an underlying cancer predisposition syndrome (CPS). The proportion of children with a cancer type suggesting a CPS among all children with cancer is unknown. To determine the proportion of children with cancer types suggesting an underlying CPS among children with cancer. We evaluated the number of children with cancer types strongly associated with CPS diagnosed in Germany between 2007 and 2016. Data were obtained from various sources including two national pediatric pathology reference laboratories for brain and solid tumors, respectively, various childhood cancer trial offices as well as the German Childhood Cancer Registry. Among 21,127 children diagnosed with cancer between 2007 and 2016, 2554 (12.1%) had a cancer type strongly associated with a CPS. The most common diagnoses were myelodysplastic syndrome and juvenile myelomonocytic leukemia, retinoblastoma, malignant peripheral nerve sheath tumor, infantile myofibromatosis, medulloblastoma(SHH), rhabdoid tumor as well as atypical teratoid/rhabdoid tumor. Based on cancer type only, 12.1% of all children with cancer have an indication for a genetic evaluation. Pediatric oncology patients require access to genetic counselling and testing.

Automated summary

The study aimed to determine the proportion of children with cancer types suggesting an underlying CPS among children diagnosed with cancer in Germany between 2007 and 2016. Among 21,127 children diagnosed with cancer, 12.1% had a cancer type strongly associated with a CPS, with the most common diagnoses being myelodysplastic syndrome, juvenile myelomonocytic leukemia, retinoblastoma, and other specific cancer types. The findings suggest that 12.1% of all children with cancer may have an indication for a genetic evaluation and access to genetic counselling and testing is important for pediatric oncology patients.