Tanaka Aya, Matsumoto Megumi, Takao Mami, Miura Shoko, Hasegawa Yuri, Otsubo Ryota, Hayashi Hiroko, Isomoto Ichiro, Miura Kiyonori, Nagayasu Takeshi
Department of Surgical Oncology, Nagasaki University Graduate School of Biomedical Sciences, 1-7-1 Sakamoto, Nagasaki, 852-8501, Japan.
Genetic Counseling Unit, Clinical Genomics Center, Nagasaki University Hospital, Nagasaki, Japan.
Hered Cancer Clin Pract. 2023 Nov 13;21(1):23. doi: 10.1186/s13053-023-00268-y.
In Japan, genetic testing, surveillance, and risk-reducing surgery for hereditary breast and ovarian cancer (HBOC) syndrome have been covered by the Japanese national insurance system since April 2020. On the other hand, the current situation is that medical care, including surveillance of undiagnosed (cancer-free) patients, is self-funded even for individuals with HBOC. We report a case in which breast cancer was diagnosed at an early stage during surveillance for cancer-free HBOC at the patient's own expense, and risk-reducing surgery was performed at the same time as treatment for breast cancer.
The patient was a 63-year-old woman. Her sister had a history of breast cancer in her 30s and was found to be a BRCA2 pathogenic variant carrier by genetic testing. The patient therefore presented to the genetic department of our hospital and underwent genetic testing (out-of-pocket). A pathogenic variant was found at the same site. During annual breast and ovarian surveillance at the patient's own expense, a physician with sufficient expertise in contrast-enhanced breast magnetic resonance imaging (MRI) noticed a change in the contrast enhancement pattern on breast MRI and performed needle biopsy, revealing ductal carcinoma in situ. At the request of the patient, she underwent concurrent contralateral risk-reducing mastectomy and risk-reducing salpingo-oophorectomy in addition to breast cancer treatment.
We encountered a case in which cancer treatment and risk-reducing surgery were performed at the same time for a pathogenic variant carrier who was very anxious about developing cancer. Surveillance of cancer-free BRCA1/2 mutation carriers and expansion of insurance coverage for surgery are important future issues.
在日本，自2020年4月起，遗传性乳腺癌和卵巢癌（HBOC）综合征的基因检测、监测以及降低风险的手术已纳入日本国家保险体系。另一方面，目前的情况是，即使是HBOC患者，包括对未确诊（无癌）患者的监测在内的医疗护理仍需自费。我们报告了一例病例，该患者在自费对无癌HBOC进行监测期间早期诊断出乳腺癌，并在乳腺癌治疗的同时进行了降低风险的手术。
患者为一名63岁女性。她的姐姐在30多岁时患过乳腺癌，经基因检测发现是BRCA2致病变异携带者。因此，该患者到我院遗传科就诊并接受了基因检测（自费）。在同一位置发现了致病变异。在患者自费进行年度乳腺和卵巢监测期间，一位在乳腺对比增强磁共振成像（MRI）方面有足够专业知识的医生注意到乳腺MRI上对比增强模式的变化，并进行了穿刺活检，结果显示为导管原位癌。应患者要求，除乳腺癌治疗外，她还同时接受了对侧降低风险的乳房切除术和降低风险的输卵管卵巢切除术。
我们遇到了一例病例，对于一位非常担心患癌的致病变异携带者，同时进行了癌症治疗和降低风险的手术。对无癌的BRCA1/2突变携带者进行监测以及扩大手术的保险覆盖范围是未来的重要问题。
