Published April 2024 | Version v1
Journal article

A case of triple-negative breast cancer diagnosed by MRI-guided biopsy during surveillance of unaffected BRCA1 pathological variant carrier

  • 1. Showa University, School of Medicine, Department of Surgery, Division of Breast Surgical Oncology, Tokyo (Japan)
  • 2. Sagara Hospital, Department of Radiology, Kagoshima (Japan)
  • 3. Saitama Prefectural Cancer Center, Department of Tumor check and prevention flirtatiousness, Ina, Saitama (Japan)

Description

We report a case of triple-negative breast cancer (TNBC) based on MRI-guided biopsy during surveillance of an unaffected BRCA1 pathological variant. The patient was a 37-year-old woman who was found to be BRCA1-positive following the diagnosis of a relative at the age of 29, and breast surveillance including MRI was conducted thereafter. Seven years later, an irregular mass of 9mm in the left C region appeared on breast MRI, and the diagnosis of breast cancer was made by MRI-guided biopsy. Left mastectomy + sentinel lymph node biopsy and right risk-reducing mastectomy were performed. The left side showed no residual lesion after biopsy, only DCIS, and the right side showed no evidence of malignancy. She is now under observation without adjuvant chemotherapy. It is considered that chemotherapy could have been avoided due to the detection of early breast cancer by appropriate surveillance. Diagnosis, surveillance, and risk-reducing surgery for blood relatives of BRCA-positive breast cancer patients are not covered by insurance, and the establishment of such a system is a future challenge. (author)

Abstract (Japanese)

BRCA1病的バリアントを保持する乳癌未発症者(以下, 未発症者)のサーベイランスにて, MRIガイド下生検にて診断に至ったトリプルネガティブ(以下, TNBC)の早期乳癌の1例を経験したので報告する. 症例は37歳, 女性. 29歳時に血縁者診断にてBRCA1病的バリアント陽性が判明し, 以降乳房造影MRIを含む乳房サーベイランスを施行. 7年目に乳房造影MRIにて左C区域に9mmの不整形腫瘤出現あり, MRIガイド下生検にて乳癌の診断となった. 左乳房全切除術およびセンチネルリンパ節生検, 対側リスク低減乳房切除術を施行. 左は生検後残存病変なく, DCISのみで, 右は悪性所見を認めなかった. TNBCであったが補助化学療法は行わず経過観察中である. 適切なサーベイランスによる早期乳癌の発見で, 化学療法を避けることができたと考えられる. BRCA病的バリアント陽性の乳癌患者の血縁者に対する診断, 病的バリアントを保持する場合のサーベイランスは重要であると考える. (著者)

Additional details

Additional titles

Original title (Japanese)
未発症BRCA1病的バリアント保持者のサーベイランス中にMRIガイド下生検にて診断されたトリプルネガティブ乳癌の1例

Publishing Information

Journal Title
Nyugan No Rinsho
Journal Volume
39
Journal Issue
2
Series
雑誌名:乳癌の臨床
Journal Page Range
p. 161-170
ISSN
0911-2251

INIS

Country of Publication
Japan
Country of Input or Organization
Japan
INIS RN
56002511
Subject category
S62: RADIOLOGY AND NUCLEAR MEDICINE;
Descriptors DEI
BIOPSY; CARCINOMAS; DIAGNOSIS; GENE MUTATIONS; MAMMARY GLANDS; MEDICAL SURVEILLANCE; NMR IMAGING; PATIENTS; SURGERY
Descriptors DEC
BODY; DIAGNOSTIC TECHNIQUES; DISEASES; GLANDS; MEDICINE; MUTATIONS; NEOPLASMS; ORGANS

Optional Information

Notes
10 refs., 8 figs.