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Cancer screening in adults with down syndrome, a proposal
Marie-Odile Rethoré1, Jacques Rouëssé2, Daniel Satgé3
1Institut Jérôme Lejeune, Paris, France; National Academy of Medicine, Paris, France.
European Journal of Medical Genetics
|October 13, 2019
Summary
Cancer screening for adults with Down syndrome (DS) needs adaptation. Specific tumor profiles in DS warrant tailored surveillance for breast, colon, cervical, and testicular cancers, differing from general population guidelines.
Area of Science:
- Oncology
- Genetics
- Public Health
Background:
- Cancer surveillance policies for the general population may not be suitable for individuals with Down syndrome (DS) due to unique cancer distribution.
- The specific tumor profile in DS necessitates a re-evaluation of existing cancer screening strategies.
Purpose of the Study:
- To review cancer screening opportunities for adults with Down syndrome.
- To consider the specific tumor profile within the DS population when evaluating screening protocols.
Main Methods:
- A comprehensive literature review was conducted.
- The review focused on cancer screening opportunities and the tumor profile in adults with DS.
Main Results:
- Solid tumors are less common in adults with DS compared to the general population or individuals with intellectual disabilities.
- Breast cancer is rare in women with DS; colorectal cancer frequency is poorly documented; cervical cancer is rarely reported but can be advanced.
- Young men with DS have an elevated risk of testicular cancer.
Conclusions:
- Adapted cancer screening programs are recommended for adults with DS, including colon cancer screening.
- Breast cancer screening is not advised for women with DS, but annual clinical monitoring with potential imaging is suggested.
- Cervical cancer screening may be offered to sexually active women with DS from age 25.
- Annual testicular cancer surveillance through palpation is recommended for men with DS aged 15-45.
- Genetic predisposition warrants surveillance similar to family members.
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