Genetic Counseling in the Follow-up of Breast Cancer patients, Conversion of a Luminal Tumor to TNBC

Archives of Breast Cancer

article

Hamid Ahmadi¹  Reza Hosseinpour¹  Behnaz Jahanbin²  Keivan Majidzadeh-A³  Farid Azmoudeh-Ardalan² 

[1] Department of Surgery, Tehran University of Medical Sciences;Department of Pathology, Tehran University of Medical Sciences;Department of Genetics, Breast Cancer Research Center, Motamed Cancer Institute

关键词: Breast cancer;    genetic counseling;    triple negative;    lHC;    conversion;   

DOI  :  10.32768/abc.20207110-13

学科分类：社会科学、人文和艺术（综合）

来源: Kaviani Breast Disease Institute

【 摘 要 】

Background: Triple-negative subtype does not have any of the receptors that are commonly found in breast cancer. Patients suffering from Triple-negative breast cancer are at risk of early metastasis and BRCAmutation. The conversion of the receptors during the metastatic progression or local recurrence of breast cancer is a well-known topic that affects the therapeutic measures and outcome. Confirmation of immunohistochemistry is essential in these conditions, but genetic evaluation is controversial. Question: Does the patient need genetics counseling in a conversion setting? And does the new specimen need CISH/FISH techniques to confirm TNBC tumors? Conclusion: There are no strong guidelines to recommend genetic counseling and BRCA testing for patients with breast cancer biomarkers conversion. Reassessing the specimen for ER, PR, and HER-2 is necessary for this setting. Case presentation: A woman suffering from primary luminal breast cancer presented with femoral bone metastasis in the follow-up after two years. Bone metastasis was compatible with the triple-negative subtype. This case was discussed at the weekly breast multidisciplinary team session of the Department of Breast Surgery, Tehran University of Medical Sciences.Question: Does the patient need genetics counseling in a conversion setting? And does the new specimen need CISH/FISH techniques to confirm TNBC tumors? Conclusion: There are no strong guidelines to recommend genetic counseling and BRCA testing for patients with breast cancer biomarkers conversion. Reassessing the specimen for ER, PR, and HER-2 is necessary for this setting.

【 授权许可】

CC BY-NC