54 A recent review published in the Journal of Health and Rehabilitation Sciences explores the potential link between autism spectrum disorder (ASD) and various forms of cancer. Vladimir Trajkovski’s study from the Institute of Special Education and Rehabilitation at the University “Ss. Cyril and Methodius” in Skopje, Macedonia, raises the possibility that both conditions may have genetic causes, opening up new research and treatment possibilities. ASD is a neurodevelopmental disorder that presents difficulties in social interaction, communication, and repetitive behaviors. It affects up to 2% of the global population, with strong genetic factors influencing its development. Interestingly, ASD has been associated with an increased risk of several chronic diseases, including diabetes, hypertension, cardiovascular diseases, and, notably, cancer. Trajkovski’s review highlights that individuals with ASD often exhibit high rates of genomic aberrations, such as chromosomal rearrangements and de novo copy-number variations, which are also common in cancer. The study identifies 43 risk genes shared between ASD and cancer, suggesting that some genetic mechanisms could potentially be leveraged for developing treatments for both conditions. The concept of pleiotropy, where a single gene can influence multiple phenotypes, is central to understanding the genetic overlap between ASD and cancer. For instance, germline loss-of-function mutations in the PTEN gene, known to increase the rate of both benign and malignant tumours, are also associated with ASD and macrocephaly. This connection points to the potential for oncogenic pathways to play a role in ASD, and vice versa. Epidemiological studies provide further evidence supporting the link between ASD and cancer. One study conducted on a cohort of 8438 patients with ASD in Taiwan found an increased incidence of genitourinary and ovarian cancers among children and young adults. Another study involving 2.3 million individuals from Nordic countries observed a higher cancer risk in those with ASD and co-occurring birth defects or intellectual disabilities. The review also says that ASD is linked to a number of single-gene neurodevelopmental disorders, including Fragile X syndrome, Rett syndrome, and tuberous sclerosis complex. It is known that these disorders can lead to the growth of tumours. This further strengthens the argument for a genetic link between ASD and certain cancers. One of the most intriguing implications of this research is the potential for approved cancer drugs to have therapeutic value in treating ASD. For instance, Rapamycin, a drug that inhibits the mTOR pathway, has shown promise in reducing autism-like behaviours in mice with PTEN mutations. Similarly, drugs targeting eIF4E, a gene involved in both cancer and ASD, are being explored for their potential to treat autism. Despite these promising findings, Trajkovski emphasises the need for further research to elucidate the exact nature of the association between ASD and cancer. Large-scale epidemiological studies are necessary to identify specific genetic and environmental factors contributing to this link. Additionally, understanding the impact of cancer treatments on individuals with ASD, who may face unique challenges in medical settings, is crucial for improving care and outcomes.