Experience with Bilateral Risk-Reducing Mastectomy for an Unaffected BRCA Mutation Carrier / 한국유방암학회지

Women with BRCA1/2 mutations have a high risk of breast cancer and may opt for risk-reducing mastectomy (RRM). We report a 38-year-old Japanese woman who was diagnosed as a BRCA2 mutation carrier. She underwent prophylactic bilateral skin-sparing mastectomy (SSM) with excision of the nipple and preservation of the areola skin. It is unclear whether a bilateral RRM leads to better survival compared with intensive surveillance. The oncological risk associated with the presence of remnant breast glandular tissue after SSM or nipple-sparing mastectomy has been obscure. We report the first case of RRM for a Japanese BRCA mutation carrier and provide a literature review on risk management for BRCA mutation carriers with a focus on the concepts and procedures of RRM.

A highly sensitive chemiluminescence assay for superoxide detection and chronic granulomatous disease diagnosis

Reactive oxygen species (ROS) produced by neutrophils are crucial for defense against infectious diseases, and the adequate measurement of ROS levels is an important way to evaluate the possibility of infections. The fluorescent probe dihydrorhodamine 123 has been applied exclusively to the measurement of ROS thus far. We developed a novel method for detecting ROS, which utilizes the chemiluminescent probes Luminol and Diogenes. The new method quantitatively detects ROS produced by as few as 10 to 10⁴ neutrophils. Furthermore, this method can detect ROS levels in one microliter of whole blood or ROS produced by Epstein-Barr immortalized B lymphocytes. This method will be valuable for prompt diagnosis of neonatal chronic granulomatous diseases in which neutrophils aberrantly produce superoxide.