Download Breast Cancer Screening in Women with Down Syndrome

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.