F57. INVESTIGATING THE RELATIONSHIP BETWEEN INTELLECTUAL DISABILITY AND COMORBID CANCERS THROUGH GENETIC SYNDROMES

• Published in: European neuropsychopharmacology 2024-10, Vol.87, p.236-236
• Main Authors: Ünsel-Bolat, Gül, Dutar, Esra, Bolat, Hilmi
• Format: Article
• Language: English
• ISSN: 0924-977X
• DOI: 10.1016/j.euroneuro.2024.08.468

The previous studies emphasized the increased frequency of cancer diagnosis in individuals with intellectual disability, delayed diagnosis and access to treatment (1). However, genetic etiology was not investigated in these studies. The aim of this study is to determine genetic syndromes including both cancers and intellectual disabilities, specific cancer types accompanying intellectual disabilities. We obtained the data from the clinical synopsis of the syndromes available in the OMIM database (https://www.omim.org/). In the first step, we detected 794 syndromes using different terms of intellectual disabilities and cancers. In the second step, we investigated the clinical synopsis of each syndromes in detail. Of these, we included 99 syndromes in which both intellectual disability and any type of cancers were presented. In the third step, we collected following data of these 99 syndromes: OMIM number, gene and location, syndrome/protein, tumor/neoplasia, inheritance, growth, head and neck, respiratory, cardiovascular, abdomen, genitourinary, skeletal, skin and nails and hair, neurologic, endocrin features, immunology, prenatal manifestations, laboratory abnormalities and other system findings. In these 99 syndromes, the most common types of cancer; 23.76 % leukemia/lymphoma, 16.83 % kidney cancer (Renal carcinoma, renal cell carcinoma, Tumors of the kidney, Wilms tumor), 16.83 % brain tumor (Meningioma, Increased risk of meningioma, Vestibular schwannoma, Malignant schwannoma, Pilocytic astrocytoma, Medulloblastoma, Ependymoma, Giant cell astrocytoma), 13.86 % skin cancer (Squamous cell carcinoma, Basal cell carcinoma, malignant melanoma, Cutaneous malignant melanoma, Early onset skin cancer, Skin cancer susceptibility), 11.88 % genitourinary tumor (Rhabdomyosarcoma, Embryonal tumors, Sacrococcygeal teratoma, Presacral teratoma). The most common phenotypic features: 40.59 % small-short stature, 33.66 % microcephaly, 22.77 % growth retardation (Growth retardation, Postnatal growth retardation, Intrauterine growth retardation, Prenatal onset growth retardation). The previous studies, it was determined that cancers of the gastrointestinal system, uterus, kidney, central nervous system, acute lymphoid leukemia and acute myeloid leukemia were statistically significantly more common in patients with intellectual disabilities (2,3). The results of these population-based studies with large samples were consistent with our study. Similarly, leukemia and brain ca