Association between Autism Spectrum Disorder and Cancer - a Review from the Literature

Abstract

Introduction: Autism spectrum disorder (ASD) is neurodevelopmental polygenic disorder with strong genetic component. In adult period, it is associated with many chronic diseases including diabetes, hypertension, cardiovascular disease, and cancer. The aim of this article is to show possible connection between autism spectrum disorder and some kinds of cancers, and to show possible pathways for prevention and treatment. Methodology: The PubMed and Google Scholar databases were searched using the keywords: autism spectrum disorder, genetics, cancer, prevention and treatment. Results: Autism spectrum disorder is associated with high rates of genomic aberrations, including chromosomal rearrangements and de novo copy-number variations. Autism and cancer share 43 risk genes, suggesting that common mechanisms underlying the functions of some of these genes could conceivably be leveraged to develop therapies not just for cancer but for autism as well. Pleiotropy, whereby gene variants exert effects on multiple phenotypes, has been the source of increasing research attention with ASD and cancer. Germline loss-of-function PTEN mutations increase the rate of benign and malignant tumors and also manifest as ASD and macrocephaly. Mutations in TSC1 and TSC2 genes cause tuberous sclerosis complex which is characterized by cortical tubers, and neurocognitive phenotypes including epilepsy, ASD, and intellectual disability (ID). Conclusion: There is may be an association between autism and specific forms of cancer. Further epidemiologic research in large populations is needed to elucidate the association between autism and cancer and identify explanatory factors. Approved drugs targeting oncogenic pathways might also have therapeutic value for treating autism spectrum disorder.