Early-stage breast cancer treatment successful in woman with vEDS
Patient, 46, cancer-free after surgery, radiotherapy, hormone therapy: Report
A combination of surgery, radiotherapy, and hormone therapy successfully treated early-stage breast cancer in a 46-year-old woman with vascular Ehlers-Danlos syndrome (vEDS) in Japan.
People with vEDS have fragile blood vessels prone to bleeding and delayed wound healing. Due to these risks, the woman underwent surgery for partial (instead of total) removal of breast tissue. Her medical team also prescribed radiation and hormone therapy because of her early cancer stage and the predicted low risk of death at 10 years.
“In patients with vascular EDS with high comorbidities [co-existing disorders] requiring careful management, surgery, and postoperative radiotherapy may be acceptable with careful planning and manipulation,” researchers wrote.
The case was described in a report, “Surgical and irradiated case of early breast cancer in a patient with Ehlers–Danlos syndrome,” published in Surgical Case Reports.
vEDS is the most severe form of EDS, a group of genetic diseases that affect the connective tissues that provide structure to body tissues and organs. Symptoms include joint hypermobility, where joints can move in a wider range of motion than normal, as well as fragile skin and arteries.
Genetic testing identified vEDS-causing mutation in COL3A1 gene
In the report, researchers in Japan described the case of a woman first suspected of having EDS at age 20, as she experienced bleeding under the skin of her leg after prolonged sitting. At age 35, she became pregnant, and genetic testing identified a mutation in the COL3A1 gene, the most common cause of vEDS. The gene codes for part of type III collagen, a protein required to maintain structure of organs and tissues.
The woman had no family history of EDS. She was referred to the researchers’ department for further examination. Palpation indicated bleeding in her left breast, although no mass was detected.
However, an ultrasound revealed the presence of two lesions in her left breast. Further imaging tests suggested ductal carcinoma in situ, an early form of breast cancer wherein the cancer cells are confined inside milk ducts in the breast.
Partial left mastectomy, a surgery to remove breast tissue, was performed for both lesions after the patient was deemed amenable to general anesthesia. Despite her fragile tissues, the woman’s surgery had no complications. She recovered well from surgery, with no delay in wound healing.
Further analysis of removed tissue indicated the larger lesion was invasive (malignant cells that grow and infiltrate the surrounding tissues), whereas the smaller one was not. There were no signs of malignant cells invading sentinel lymph nodes, which is where the cancer would spread first. Lymph nodes are organs that filter fluid to keep the body healthy.
Also, type III collagen was absent in the patient’s breast tissue surrounding the tumor. No signs of vascular damage were detected.
After breast surgery, woman underwent radiotherapy, hormone therapy
After the surgery, the woman did not want to undergo chemotherapy if possible, so she was started on radiotherapy to the preserved part of the left breast. She was also prescribed oral hormonal therapy for 10 years. No complications associated with the treatment were reported. The patient was also treated with hormone therapy.
Despite the limited data about the safety of radiotherapy for EDS patients, previous studies have not reported severe reactions. Therefore, the researchers “judged that breast radiotherapy was likely to be safe.”
Nine months after surgery, the woman remained cancer-free.
In EDS, “several complications are associated with surgery and other invasive procedures,” the researchers wrote. However, “at present, local treatment with surgical therapy is mandatory, except in limited cases such as low-grade, non-invasive cancer.”
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