Optimal treatment of breast cancer in BRCA gene mutations
By Dr. Jay Anam
Surgery: Breast Surgeries
Brief history: Mrs. Sarika Navale (name changed) is a 33 year old, lady working as a nurse in a reputed hospital. She is married since 10 years and has two children, the youngest child is 4 years of age. She came to us with a lump in the left armpit over a month.
An excisional biopsy was done and it was diagnosed to be a lymph node with cancer that has spread from breast. Since there were no palpable lesions in the left breast and mammogram did not show any abnormality either, breast MRI was done. MRI of the breast showed a 2 cm lump near the nipple.
The immunohistochemistry done on the biopsy specimen showed it was a triple negative breast cancer(No ER, PR or HER 2neu receptors). A PET scan was done, which ruled out metastases (distant spread of the disease).
In view of lymph node positivity, triple negative status, she was started on neoadjuvant (before surgery) chemotherapy and referred for genetic counseling. Her genetic testing came positive for BRCA 1 mutation. Due to this mutation she was at high risk for developing breast cancer in the opposite (right) breast and ovaries in future.
After Mrs Sarika finished her chemotherapy, these risks were discussed in detail with her. She was advised to consider removal of both breasts and both ovaries to prevent appearance of new cancers in those organs, in future.
Patient was concerned about her appearance after removal of both the breasts. She was also worried about the impact of removal of both ovaries on her health.
- bilateral skin-sparing mastectomy(removal of the entire breast with nipple while preserving the skin covering the breast) with axillary clearance (removal of the nodes in the arm pit where the breast cancer usually spreads) for the affected left breast which had cancer, and
- a simple skin sparing mastectomy ( removal of the entire breast along with nipple) for the normal right breast
- bilateral saphingo-oophorectomy (removal of both ovaries and tubes).
- We also planned reconstruction of both her breasts using her own abdominal fat. This is called as a DIEP Flap (deep inferior epigastric perforator flap). The abdominal fat along with overlying skin and blood vessel is used to reconstruct a new breast.
Patient underwent surgery, received breast reconstruction for both sides.
Fig 02. Left sided Skin Sparing mastectomy with axillary clearance, right sided skin sparing mastectomy only
Her post operative recovery was uneventful and she was discharged after 7 days. Patient took additional chemotherapy. She also recieved radiation to the left side.
After the completion of the treatment she is back to work at her hospital. She has the freedom to do all her routine activities which she used to do earlier. With breast reconstruction, she does not get reminded of the cancer she faced whenever she has to choose what kind of clothes to wear.
Diagnosing BRCA mutations in breast cancer patients is important to offer optimal treatment. Breast cancer patients with BRCA gene mutations have a high risk of developing cancer in the opposite breast and ovaries. Addressing this future risk is also essential while treating the present breast cancer. This is usually done by removal of the normal breast and normal ovaries at the time of surgery for breast cancer. Removal of both the breasts is a devastating experience for a lady. Breast reconstructions offer a chance to live a life with dignity and self-respect, even after mutilating breast surgeries.