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

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https://doi.org/10.33700/jhrs.3.1.103

Keywords:

autism spectrum disorder, cancer, genetics, prevention, treatment

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.

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Author Biography

Vladimir Trajkovski, Institute of Special Education and Rehabilitation, Faculty of Philosophy, University “Ss. Cyril and Methodius, Skopje, Macedonia

Dr. Vladimir Trajkovski is a full professor at the Institute of Special Education and Rehabilitation, Faculty of Philosophy at the University "St. Cyril and Methodius” in Skopje, Macedonia. He is the president and one of the founders of the Macedonian Scientific Association for Autism (MSSA) (www.mssa.org.mk). For 23 years his preoccupation has been the autistic spectrum disorders. From 2008-2017 he was the editor-in-chief of the Journal of Special Education and Rehabilitation, and since April 2018 he has been the editor-in-chief of the international Journal for ReAttach Therapy and Developmental Diversity (https://jrtdd.com). In 2004 he introduced the subject "Autism" to the postgraduate studies at the Faculty of Philosophy.

He participates in more than 120 seminars, congresses, symposia and conferences in the country and abroad. In the last 2 pandemic years, he organizes and teaches at about 30 webinars organized by the MSSA. Actively participates in the preparation and implementation of 19 professional-scientific national and international projects. He has made study visits to nine European countries. He is the author of 8 textbooks, practicums and monographs, 110 papers in domestic and foreign periodicals, 13 of which are in journals with an impact factor.

He is currently a visiting professor at the Alma Mater Europa University in Slovenia, a member of the Macedonian Society for Human Genetics, a member of the editorial boards of 5 international journals, and also contributes to the work of various bodies of international associations and societies (Autism Europe, EASPD, IASSID) that treat autism, intellectual disability and disability.

He is winner of the award for the best scientist at Ss. Cyril and Methodius University in Skopje in the field of biomedical and health sciences for 2017.

References

Aguilera, A. and Garcia-Muse, T. (2013) Causes of genome instability. Annu Rev Genet; 47, 1–32.

American Cancer Society. (2024). Cancer Facts & Figures. Available from URL: https://www.cancer.org/research/cancer-facts-statistics/all-cancer-facts-figures/2024-cancer-facts-figures.html.

Bourgeron, T. (2015). From the genetic architec-ture to synaptic plasticity in autism spectrum disorder. Nat Rev; 16, 551–563.

Boulay A., Lane H.A. (2007). The mammalian target of rapamycin kinase and tumor growth inhibition. Recent Results Canc Res; 172:99–124. https://doi.org/10.1007/978-3-540-31209-3_7.

Butler, M.G., Dasouki, M.J., Zhou, X.P., Talebi-zadeh, Z., Brown, M., et al. (2005). Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mu-tations. Journal of Medical Genetics; 42, 318–321.

Center for Disease Control (2023). Autism Preva-lence Higher, According to Data from 11 ADDM Communities. Available from: https://www.cdc.gov/.

Chiang, H. L., Liu, C. J., Hu, Y. W., Chen, S. C., Hu, L. Y., Shen, C. C., Yeh, C. M., Chen, T. J., & Gau, S. S. (2015). Risk of cancer in children, adolescents, and young adults with autistic disorder. The Journal of pediatrics, 166(2), 418–23.e1. https://doi.org/10.1016/j.jpeds.2014.10.029.

Crawley, J. N., Heyer, W. D., & LaSalle, J. M. (2016). Autism and Cancer Share Risk Genes, Pathways, and Drug Targets. Trends in genetics: TIG, 32(3), 139–146. https://doi.org/10.1016/j.tig.2016.01.001.

Crespi, B. (2011). Autism and cancer risk. Autism Research, 4(4), 302–310.

Darbro, B. W., Singh, R., Zimmerman, M. B., Ma-hajan, V. B., & Bassuk, A. G. (2016). Autism Linked to Increased Oncogene Mutations but Decreased Cancer Rate. PloS one, 11(3), e0149041. https://doi.org/10.1371/journal.pone.0149041.

Dell, D. D., Feleccia, M., Hicks, L., Longstreth-Papsun, E., Politsky, S., & Trommer, C. (2008). Care of patients with autism spec-trum disorder undergoing surgery for can-cer. Oncology nursing forum, 35(2), 177–182. https://doi.org/10.1188/08.ONF.177-182.

Fischer, P. M. (2009). Cap in hand: Targeting eIF4E. Cell Cycle; 8, 2535–2541.

Forés-Martos, J., Catalá-López, F., Sánchez-Valle, J., Ibáñez, K., Tejero, H., Palma-Gudiel, H., Climent, J., Pancaldi, V., Fañanás, L., Arango, C., Parellada, M., Baudot, A., Vogt, D., Ru-benstein, J. L., Valencia, A., & Tabarés-Seisdedos, R. (2019). Transcriptomic metaa-nalyses of autistic brains reveals shared gene expression and biological pathway abnor-malities with cancer. Molecular autism, 10, 17. https://doi.org/10.1186/s13229-019-0262-8.

Gabrielli, A. P., Manzardo, A. M., & Butler, M. G. (2019). GeneAnalytics Pathways and Profil-ing of Shared Autism and Cancer Genes. International journal of molecular sciences, 20(5), 1166. https://doi.org/10.3390/ijms20051166.

Gannon, William T, Martinez, Jose E., Anderson, Stephanie J, Swingle, Hanes M. Cancer and Copy Number Variants in an Autism Diag-nostic Clinic. Journal of Developmental & Behavioral Pediatrics; 34(5): 379-381, June 2013. doi: 10.1097/DBP.0b013e318294c958.

Kao, H. T., Buka, S. L., Kelsey, K. T., Gruber, D. F., & Porton, B. (2010). The correlation between rates of cancer and autism: an exploratory ecological investigation. PloS one, 5(2), e9372. https://doi.org/10.1371/journal.pone.0009372.

Kilincaslan, A.; Kok, B.E.; Tekturk, P.; Yalcinkaya, C.; Ozkara, C.; Yapici, Z. (2017). Beneficial effects of everolimus on autism and attention-deficit/hyperactivity disorder symptoms in a group of patients with tuber-ous sclerosis complex. J Child Adolesc Psy-chopharmacol; 27, 383–388.

Kotajima-Murakami, H., Kobayashi, T., Kashii, H. et al. Effects of rapamycin on social inter-action deficits and gene expression in mice exposed to valproic acid in utero. Mol Brain 12, 3 (2019). https://doi.org/10.1186/s13041-018-0423-2.

Kwon, C.H., Luikart, B.W., Powell, C.M., Zhou, J., Matheny, S.A., et al. (2006). Pten regulates neuronal arborization and social interaction in mice. Neuron, 50, 377–388.

LaSalle, J.M. et al. (2015). Epigenetic regulation of UBE3A and roles in human neurodevel-opmental disorders. Epigenomics 7, 1213–1218.

Liu, Q., Yin, W., Meijsen, J. J., Reichenberg, A., Gådin, J. R., Schork, A. J., Adami, H. O., Kolevzon, A., Sandin, S., & Fang, F. (2022). Cancer risk in individuals with autism spec-trum disorder. Annals of oncology : official journal of the European Society for Medical Oncology, 33(7), 713–719. https://doi.org/10.1016/j.annonc.2022.04.006.

Lord, C., Elsabbagh, M., Baird, G., Veenstra-Vanderweele J. (2018). Autism spectrum dis-order. Lancet; 392(10146): 508520.

McBride, K.L., Varga, E.A., Pastore, M.T., Prior, T.W., Manickam, K., et al. (2010). Confirma-tion study of PTEN mutations among indi-viduals with autism or developmental de-lays/mental retardation and macrocephaly. Autism Research; 3, 137–141.

Numis, A. L., Major, P., Montenegro, M. A., Muzykewicz, D. A., Pulsifer, M. B., & Thiele, E. A. (2011). Identification of risk factors for autism spectrum disorders in tuberous scle-rosis complex. Neurology, 76(11), 981–987. https://doi.org/10.1212/WNL.0b013e3182104347.

Szatmari, P., Paterson, A. D., Zwaigenbaum, L., Roberts, W., Brian, J., Liu, X. Q., Vincent, J. B., Skaug, J. L., Thompson, A. P., Senman, L., Feuk, L., Qian, C., Bryson, S. E., Jones, M. B., Marshall, C. R., Scherer, S. W., Vieland, V. J., Bartlett, C., Mangin, L. V., … Meyer, K. J. (2007). Mapping autism risk loci using ge-netic linkage and chromosomal rearrange-ments. Nature genetics, 39(3), 319–328. https://doi.org/10.1038/ng1985.

Martincorena, I. and Campbell, P.J. (2015). So-matic mutation in cancer and normal cells. Science 349, 1483–1489.

Neves-Pereira, M., Mu¨ller, B., Massie, D., Wil-liams, J.H., O’Brien, P.C., et al. (2009). De-regulation of EIF4E: A novel mechanism for autism. Journal of Medical Genetics; 46, 759–765.

Pinto, D. et al. (2014) Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Am J Hum Genet; 94, 677–694.

Vorstman, J. A., Staal, W. G., van Daalen, E., van Engeland, H., Hochstenbach, P. F., & Franke, L. (2006). Identification of novel autism candidate regions through analysis of re-ported cytogenetic abnormalities associated with autism. Molecular psychiatry, 11(1), 1–28. https://doi.org/10.1038/sj.mp.4001781.

Vuattoux, D., Colomer-Lahiguera, S., Fernandez, P. A., Jequier Gygax, M., Choucair, M. L., Beck-Popovic, M., Diezi, M., Manificat, S., Latifyan, S., Ramelet, A. S., Eicher, M., Cha-bane, N., & Renella, R. (2021). Cancer Care of Children, Adolescents and Adults With Autism Spectrum Disorders: Key Infor-mation and Strategies for Oncology Teams. Frontiers in oncology, 10, 595734. https://doi.org/10.3389/fonc.2020.595734.

Vukovic, V., Banda, A., Carneiro, L., Dogan, S., Knapp, P., McMahon, M., Milutinovic, D., Soylar, P., Sykes, K., Tosun, B., Yava, A., Trajkovski, V., Wells, J., & Cuypers, M. (2023). The importance of cancer prevention policies to inform and guide preventative and screening measures for people with in-tellectual disabilities: The COST project "Cancer- Understanding Prevention in Intel-lectual Disabilities". Journal of intellectual disabilities : JOID, 17446295231213752. Advance online publication. https://doi.org/10.1177/17446295231213752.

Wells, J. (2023). A COST Action to address chal-lenges facing people with intellectual disa-bilities accessing cancer prevention and re-sponse services across Europe – Introducing CUPID - Cancer- Understanding Prevention in Intellectual Disabilities. Journal of Health and Rehabilitation Sciences, 1(1), 12–16. https://doi.org/10.33700/jhrs.1.1.46.

Yavuz, B. R., Arici, M. K., Demirel, H. C., Tsai, C. J., Jang, H., Nussinov, R., & Tuncbag, N. (2023). Neurodevelopmental disorders and cancer networks share pathways, but differ in mechanisms, signaling strength, and out-come. NPJ genomic medicine, 8(1), 37. https://doi.org/10.1038/s41525-023-00377-6.

Published

04.03.2024 — Ahead of print updated on 19.06.2024 as final version

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How to Cite

Trajkovski, V. (2024). Association between Autism Spectrum Disorder and Cancer - a Review from the Literature. Journal of Health and Rehabilitation Sciences, 3(1), 21–27. https://doi.org/10.33700/jhrs.3.1.103 (Original work published March 4, 2024)

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