Takaoka Megumi, Ohsumi Shozo, Miyoshi Yuichiro, Takahashi Mina, Takashima Seiki, Aogi Kenjiro, Shimizu Teruhiko, Teramoto Norihiro, Yamamoto Yasuko, Okamura Miki
Department of Breast Oncology, National Hospital Organization Shikoku Cancer Center, 160 Kou, Minami-umenomoto-machi, Matsuyama, 791-0280, Japan.
Department of Radiology, National Hospital Organization Shikoku Cancer Center, 160 Kou, Minami-umenomoto-machi, Matsuyama, 791-0280, Japan.
Surg Case Rep. 2021 Oct 21;7(1):228. doi: 10.1186/s40792-021-01313-5.
Hereditary breast and ovarian cancer (HBOC) syndrome is a susceptibility syndrome for cancers, such as breast and ovarian cancer, and BRCA1/2 are its causative genes. Annual breast-enhanced magnetic resonance imaging (MRI) is recommended for BRCA1/2 mutation carriers aged over 25 years as a secondary prevention of breast cancer. However, breast MRI surveillance is rarely performed in Japan, and only four cases of breast cancer diagnosis triggered by MRI surveillance have been reported.
At our hospital, MRI triggered the diagnosis of breast cancer in four cancer-free BRCA1/2 mutation carriers. In one of our four cases, although MRI showed only a 3-mm focus, we could diagnose breast cancer by shortening the surveillance interval considering the patient's high-risk for developing breast cancer.
Image-guided biopsy, including MRI-guided biopsy, depending on the size of the lesion, and shorter surveillance intervals are useful when there are potentially malignant findings on breast MRI surveillance for cancer-free patients with HBOC.
遗传性乳腺癌和卵巢癌（HBOC）综合征是乳腺癌、卵巢癌等癌症的易患综合征，BRCA1/2 是其致病基因。对于年龄超过 25 岁的 BRCA1/2 突变携带者，建议每年进行乳腺增强磁共振成像（MRI）检查，作为乳腺癌的二级预防措施。然而，在日本很少进行乳腺 MRI 监测，仅有 4 例由 MRI 监测引发乳腺癌诊断的病例报道。
在我院，MRI 检查促使 4 名无癌的 BRCA1/2 突变携带者被诊断出患有乳腺癌。在我们的 4 个病例中，其中 1 例尽管 MRI 仅显示一个 3 毫米的病灶，但考虑到患者患乳腺癌的高风险，通过缩短监测间隔时间，我们得以诊断出乳腺癌。
对于 HBOC 无癌患者，当乳腺 MRI 监测发现潜在恶性征象时，根据病变大小进行包括 MRI 引导活检在内的影像引导活检，并缩短监测间隔时间是有用的。
