Hereditary Breast Cancer
PATIENT DETAILS
- Age: 37 years
- Gender: Female
- Medical History: Premenopausal, no comorbid conditions
CASE PRESENTATION
A 37-year-old female presented with a left breast lump of 3 months duration. She reported a progressive increase in its size. The patient had a strong family history of breast cancer on her paternal side.
On examination, Dr. Garvit Chitkara, a seasoned breast cancer surgeon in Mumbai, found a lump of 5.5×4.5 cm. It was present in the retro areolar region of the left breast. There was no palpable axillary node involvement.
DIAGNOSIS
- Invasive Ductal Carcinoma
- Ipsilateral Axillary Metastasis
During the examination, the doctor discovered a lump of 5.5×4.5 cm in the retro areolar area of the left breast. No palpable axillary nodes were involved.
A bilateral mammogram indicated suspicious findings. Ultrasound-guided core biopsy confirmed Invasive Ductal Carcinoma (IDC) with Ipsilateral axillary involvement.
TREATMENT
- Neoadjuvant chemotherapy
- Chemo port insertion
- Ultra clip insertion post-chemotherapy
- Genetic counselling and hereditary cancer gene panel testing
- Skin-sparing mastectomy with sentinel lymph node biopsy
- Extended Latissimus Dorsi flap-based whole breast reconstruction
- Locoregional radiotherapy
- Targeted therapy
SYMPTOMS
- Left breast lumpwith a progressive increase in size
- Persistent breast pain
TESTS PERFORMED
1. Bilateral mammogram
2. Ultrasound-guided core biopsy
3. Hereditary cancer gene panel testing
4. Post-chemo assessment
5. Histopathology of excised tissue
DETAILED DESCRIPTION OF TREATMENT
- After the insertion of a chemo port, the patient received neoadjuvant chemotherapy. Its purpose was to reduce the tumor’s size. After two cycles of chemotherapy, Garvit re-examined her to see the response. After ascertaining the response, he inserted an ultra clip in the centre of the tumor.
- Due to a strong family history of breast cancer, genetic counselling was advised. VUS (Variant of Unknown Significance) was identified in the MSH2 gene. It prompted further analysis.
- Upon pedigree chart analysis, the cancer patients in her family had the same VUS in the same gene at the same location. Dr. Garvit recommended mutation-specific testing to her siblings. It showed no VUS in healthy individuals.
- The Molecular Tumor Board discussed the case. It determined the likelihood of a pathogenic mutation. Dr. Garvit shared these observations with the patient and her family.
- In the meantime, the patient completed her neoadjuvant chemotherapy. Her post-chemo assessment showed a positive response. Despite her concerns about a second primary, she chose breast reconstructioninstead of conservation. She had a B cup size and minimal ptosis. Dr. Garvit presented her with options for reconstruction.
- Garvit performed a skin-sparing mastectomywith sentinel lymph node biopsy. Then, he executed an Extended Latissimus Dorsi flap-based whole breast reconstruction.
- The post-operative histopathology results revealed the exact extent of the cancer. It also confirmed no involvement of lymph nodes.
POST-OPERATIVE ASSESSMENT
- Post-mastectomy, histopathology revealed residual invasive breast cancer with ductal carcinoma in situ (DCIS). However, there was no sign of lymph node involvement.
- The patient is currently receiving adjuvant therapy. It involves locoregional radiotherapy and targeted therapy. Dr. Garvit has scheduled regular follow-ups to track recurrence and assess treatment efficacy.
Discussion
- This case highlights the significance of conducting comprehensive genetic testing. Especially in scenarios where there is a significant family history of cancer.
- It emphasizes the importance of effective communication and patient involvement in decision-making. Particularly about surgical interventionsand options for reconstruction.
- Furthermore, it underscores the value of multidisciplinary collaboration in complex cases.
PATIENT'S FEEDBACK
The patient expressed satisfaction with the treatment plan, surgical outcome and reconstruction. She appreciated Dr. Garvit’s approach and the efforts to address her family history. She valued being involved in the decision-making process on treatment options. She feels supported and optimistic about her prognosis.