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Breast Cancer Screening in Women with Down Syndrome Brian Chicoine, MD1,2, Melody Roth, MD2,, Suela Sulo,MSc3, Laura Chicoine, BA1 Advocate Medical Group Adult Down Syndrome Center1, Family Medicine Residency2, Russell Research Institute3 Abstract: Introduction: Studies have shown that women with Down syndrome (DS) have a lower incidence of breast cancer than women in the general population; however, women with DS continue to fall under the breast cancer screening recommendations for the general population. As greater emphasis is placed on preventive screening and individualized care, efforts should be taken to establish which screening tests should be recommended for this specific population. Methods: This retrospective study examined mammograms of women with DS by completing a medical record review. Data was collected from the records of 684 women who were at least 35 years of age when they were evaluated at the Adult Down Syndrome Center in Park Ridge, Illinois, from January 1996 to May 2012. We recorded the number and frequency of screening mammograms received and their results, as well as the number and type of additional tests performed and their results. Results: Of the 684 patients who met inclusion criteria, 290 had a mammogram between 1992 and 2012. There were 993 mammograms on record, 902 were routine screening and 93 were diagnostic mammograms. Only 2 (0.7%) women had a diagnosis of breast cancer. Conclusion: This study found a low rate of breast cancer among women with DS, a finding which is consistent with previous studies. In addition, the financial cost per finding was high, the benefit questionable, and the potential for harm greater. With less than 1% of the women with DS developing breast cancer, we recommend a review by national organizations and a discussion as to whether mammograms should continue to be a part of health maintenance for women with DS. Methods: 684 female patients with Down syndrome aged 35 and older when evaluated at the Adult Down Syndrome Center located in Park Ridge, Illinois, from January 1996 to May 2012. Approval and a waiver of authorization for access to patient private health information were obtained from the Advocate Health Care's Institutional Review Board. Data was collected through a retrospective chart review completed by trained research assistants who accessed information related to patients' histories of breast cancer screening and breast health. Information recorded: the number and dates of screening, diagnostic, and follow-up mammograms received and their results, as well as the number and dates of additional tests or procedures performed and their results. The types of additional tests or procedures were ultrasounds, breast MRIs, pre-surgery X-rays, needle localizations, biopsies, and lumpectomies. Introduction: Down syndrome (DS) is the most common chromosomal condition, which results from an additional full or partial copy of the twenty-first chromosome. Figure 3. Mammogram results Results: Life expectancy for people with DS has increased from 25 in 1983 to 60 today, meaning that people with DS are reaching the age where they can participate in screening recommendations for the general population. As greater emphasis is placed on screening and on individualized care, efforts should be taken to establish which screening tests should be recommended for specific populations. All organizations recommend screening mammograms as part of a breast cancer screening protocol beginning sometime between ages 40 and 50. American Cancer Society states that breast cancer is the most common cancer in women. About 1 in 8 women develop breast cancer during their lifetime. It is also the second leading cause of cancer death in women. Multiple studies across Europe and Japan have shown a decreased risk of solid tumors, including breast cancer, in persons with DS. These studies have shown that the number of breast cancer cases found was significantly lower than the expected number, and in some studies were nonexistent. Figure 1. Study population of female patients who qualified for the study. o People with DS have a higher risk of anesthesia and increased susceptibility to the effects of ionizing radiation compared to the general population potentially increasing the risk of mammography and follow-up testing. the family history of breast cancer was not available for many of the patients. Neither of the women with cancer had a reported family history of breast cancer. Conclusions: The benefit of mammography in women with DS in this study was limited and mammography likely did not reduce mortality The measured financial cost was substantial Additional costs of time and higher potential for complications from additional testing must be considered when assessing mammography cost nationwide While some studies have concluded that the benefits of mammogram screening tests outweigh the risks posed by ionizing radiation for people in the general population, no studies could be found that analyzed the risk-benefit ratio specifically for adults with Down syndrome. With substantial cost and risk and limited benefit, we conclude that in this study population of women with Down syndrome, breast cancer screening with mammography is unlikely to be a beneficial, cost-effective part of health maintenance. We recommend a review by national organizations and a discussion as to whether mammograms should continue to be a part of health maintenance for women with DS References: Hannan, M., Waghray, M., Sigut, D., & Ozand, P. (1992). Increased radiosensitivity of cell lines derived from a Down’s syndrome patient with ocular telangiectasia. Journal of Child Neurology, 7(Supp), 83-87. Purpose: Evaluate the occurrence of breast cancer in women with DS seen at the ADSC Identify number of patients with breast cancer, frequency of mammograms, number and type of abnormalities found in mammograms Total of 993 mammograms Only 2 cancers were found in this study: o a non-invasive ductal adenocarcinoma insitu (age 57 at diagnosis) o a phyllodes tumor with borderline malignant potential (age 46 at diagnosis) o neither cancer was invasive o the phyllodes tumor was found on exam (and confirmed by mammogram) o in light of the non-invasive nature of the 2 cancers, the mortality benefit of the mammograms is not clear and may be none o the families of both patients opted not to follow through with the rest of the recommended treatment after surgical removal. Both patients had several subsequent mammograms without evidence of recurrence of cancer. o both patients developed Alzheimer disease in the next several years. Alzheimer disease caused the death of the woman with adenocarcinoma in situ 6 years after the cancer diagnosis and severe morbidity (at the time of writing this poster), 9 years after the diagnosis of cancer) in the woman with the phyllodes tumor Figure 4. Additional testing Figure 2. The Adult Down Syndrome Center Cost of screening in women with DS o 902 screening mammograms x $280 per mammogram: $252,560.00 o 91 diagnostic mammograms: $25,480.00 o additional testing: $37,541.00 o total medical cost: $315,581.00 or $158,000.00 per cancer found o time cost of patient and family/staff who accompany woman with DS for essentially all testing Hasle, H., Clemmensen, I.H., & Mikkelsen, M. (2000). Risks of leukaemia and solid tumours in individuals with Down’s syndrome. Lancet, 355(9199), 165-169. Hendrick, R. (2010). Radiation doses and cancer risks from breast imaging studies. Radiology, 257(1). Meitzner, M. & Skurnowicz, J. (2005). Anesthetic considerations for patients with Down syndrome. American Association of Nurse Anesthetists Journal, 73, 103-107. Satge, D., Sasco, A.J., Pujol, H., & Rethore, M.O. (2001). Breast cancer in women with trisomy 21. Bull Acad Natl Med, 185(7), 1239-1252 Sullivan, S.G., Hussain, R., Glasson, E.J., & Bittles, A.H. (2007). The profile and incidence of cancer in Down syndrome. Journal of Intellectual Disability Research, 51(3), 228-231. . The U.S. Preventive Services Task Force. (2009). Screening for breast cancer: Summary of recommendations. Retrieved from http://www.uspreventiveservicestaskforce.org/ uspstf/uspsbrca.htm. Retrieved August 2014.