Michiko Yamashita1,2, Yoshiaki Kamei3,4, Akari Murakami1,2, Erina Ozaki5, Kumiko Okujima1,2, Kana Takemoto1,2, Megumi Takaoka1,2, Daiki Tsukamoto1,2, Erina Kusakabe1,2, Tomoyuki Shidahara1,2, Haruna Noda1,2, Reina Aoki1,2, Kana Taguchi1,2, Kanako Nishiyama1,2, Mariko Eguchi6, Yasutsugu Takada2. 1. Department of Breast Center, Ehime University Hospital, Shitsukawa, Toon, Ehime, Japan. 2. Department of Hepato-Biliary-Pancreatic Surgery and Breast Surgery, Ehime University Graduate School of Medicine, Shitsukawa, Toon, Ehime, Japan. 3. Department of Breast Center, Ehime University Hospital, Shitsukawa, Toon, Ehime, Japan. yoshkam@m.ehime-u.ac.jp. 4. Department of Hepato-Biliary-Pancreatic Surgery and Breast Surgery, Ehime University Graduate School of Medicine, Shitsukawa, Toon, Ehime, Japan. yoshkam@m.ehime-u.ac.jp. 5. Department of Total Medical Support Center, Ehime University Hospital, Shitsukawa, Toon, Ehime, Japan. 6. Department of Pediatrics, Ehime University Graduate School of Medicine, Shitsukawa, Toon, Ehime, Japan.
Abstract
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.
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.
Entities:
Keywords:
BRCA1 mutation; Chondroid metaplasia; Triple-negative breast cancer
Authors: Annette Breuer; Michaela Kandel; Annette Fisseler-Eckhoff; Christian Sutter; Eva Schwaab; Hans-Joachim Lück; Andreas du Bois Journal: Onkologie Date: 2007-05-29