2021年1月6日
Metaplastic carcinoma of the breast and BRCA1 germline mutation: a case report and review.
Hereditary cancer in clinical practice
- 巻
- 19
- 号
- 1
- 開始ページ
- 3
- 終了ページ
- 3
- 記述言語
- 英語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.1186/s13053-020-00162-x
- 出版者・発行元
- Springer Science and Business Media LLC
BACKGROUND: Metaplastic carcinoma of the breast consists of both invasive ductal carcinoma and metaplastic carcinoma. This rare subtype of cancer has a poor prognosis. The development of metaplastic breast cancer and relationship with BRCA1 are not well known. Here, we report a rare case of germline BRCA1 mutation-positive breast cancer with chondroid metaplasia. CASE PRESENTATION: A 39-year-old Japanese woman with a family history of breast cancer in her mother and ovarian cancer in her maternal grandmother consulted at our hospital with a left breast mass. Needle biopsy for the mass was performed, leading to a diagnosis of invasive breast cancer with chondroid metaplasia. We performed left mastectomy + sentinel lymph node biopsy + tissue expander insertion and replaced with a silicone implant later. Pathological examination revealed that the patient had triple-negative breast cancer. Four courses of doxorubicin+ cyclophosphamide therapy were performed as adjuvant therapy after surgery. We performed genetic counseling and genetic testing, and the results suggested the germline BRCA1 mutation 307 T> A (L63*). She has currently lived without a relapse for 2 years post-surgery. CONCLUSIONS: There have been only 6 cases of metaplastic breast carcinoma with germline BRCA1 mutations including our case. Patients with BRCA1 mutations may develop basal-like subtypes or M type of triple-negative breast cancer besides metaplastic breast cancers.
- リンク情報
-
- DOI
- https://doi.org/10.1186/s13053-020-00162-x
- PubMed
- https://www.ncbi.nlm.nih.gov/pubmed/33407746
- PubMed Central
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7789215
- URL
- http://link.springer.com/content/pdf/10.1186/s13053-020-00162-x.pdf
- URL
- http://link.springer.com/article/10.1186/s13053-020-00162-x/fulltext.html
- ID情報
-
- DOI : 10.1186/s13053-020-00162-x
- eISSN : 1897-4287
- PubMed ID : 33407746
- PubMed Central 記事ID : PMC7789215