Molecular syndromology · 2025
Genetic Syndromes Including Intellectual Disability and Different Cancer Types.
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Ünsel-Bolat Gül, Dutar Esra, Bolat Hilmi
Аннотация
BACKGROUND: The aim of this study was to determine genetic syndromes including both cancers and intellectual disabilities, specific cancer types accompanying intellectual disabilities.
SUMMARY: 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 syndrome in detail. Of these, we included 99 syndromes in which both intellectual disability and any type of cancer 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/neck, respiratory, cardiovascular, abdomen, genitourinary, skeletal, skin/nails/hair, neurologic, endocrine features, immunology, prenatal manifestations, laboratory abnormalities, and other system findings.
KEY MESSAGES: The most common cancer types among these 99 syndromes are listed in percentage. Since individuals with intellectual disabilities have difficulty expressing themselves and understanding the symptoms of the disease, the diagnosis of diseases in these people is late and their treatment becomes difficult. We suggest that genetic tests to be performed in intellectual disability are important for early diagnosis, follow-up, and treatment of accompanying cancers. We especially emphasize the importance of leukemia, brain tumors, and tumors of embryonal origin in individuals with intellectual disability.
SUMMARY: 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 syndrome in detail. Of these, we included 99 syndromes in which both intellectual disability and any type of cancer 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/neck, respiratory, cardiovascular, abdomen, genitourinary, skeletal, skin/nails/hair, neurologic, endocrine features, immunology, prenatal manifestations, laboratory abnormalities, and other system findings.
KEY MESSAGES: The most common cancer types among these 99 syndromes are listed in percentage. Since individuals with intellectual disabilities have difficulty expressing themselves and understanding the symptoms of the disease, the diagnosis of diseases in these people is late and their treatment becomes difficult. We suggest that genetic tests to be performed in intellectual disability are important for early diagnosis, follow-up, and treatment of accompanying cancers. We especially emphasize the importance of leukemia, brain tumors, and tumors of embryonal origin in individuals with intellectual disability.