A pilot randomized controlled study to determine the effectiveness of video educational tool in BRCA1/2 pre-test counseling for Japanese breast cancer patients.

BRCA1/2 genetic testing has become clinically important in breast cancer care, but increasing demand may put a burden on the shortage of healthcare professionals. We performed a single-center, pilot randomized controlled study to assess the effectiveness of employing a video educational tool that included standard pre-test genetic counseling elements related to BRCA1/2. Patients with operable breast cancer who met the criteria for genetic testing based on age, sex, subtype, and family history were recruited. Sixty consenting participants were randomized 1:1 and placed in groups that received either traditional face-to-face pre-test counseling or video-viewing and face-to-face decisional support. To assess decisional conflict in the participants, surveys based on the Decisional Conflict Scale (DCS) were administered two times, once immediately after intervention and again 2-4 weeks later. The time taken for counseling and confirmation of whether the participants had undergone testing were also recorded. The difference in the total DCS scores between the two groups was not significantly different for either of the survey periods, and there was no significant difference in the number of participants who underwent testing (23/30 [76.7%] vs. 26/30 [86.7%]; p = 0.51). However, the "effective decision" subscale score was significantly higher in the video group 2-4 weeks after counseling (31.01 ± 16.82 vs. 21.43 ± 16.09; p = 0.04 [mean ± SD]). The time taken for counseling was significantly shorter in the video group (8.00 ± 4.5 vs. 27.00 ± 7.61 min; p < 0.001 [median ± SD]). Our findings indicate the potential benefit of the video educational tool for providing BRCA1/2-related information. These tools may also enable healthcare professionals to spend more time supporting psychological issues. Notably, after some time, patients may question whether their decision was appropriate. Therefore, it is necessary to identify those in conflict and provide them with proper support.

High Frequency of BRCA2 c.5576_5579del Carriers in Kakogawa, Japan.

Background/Aim: Certain germline pathogenic variants (PVs), known as founder mutations, have been frequently observed in specific regions and ethnic groups. In Japan, several pathogenic variants of BRCA1/2 have been identified as founder mutations, with their distribution varying across different regions. This retrospective study aimed to further investigate the detailed distribution and correlation between genotype and clinical features among breast cancer patients. Patients and Methods: This study was conducted at Kobe University Hospital and three collaborating institutions. It included breast cancer patients who underwent BRCA1/2 genetic testing between July 1, 2018, and March 31, 2021, and were found to have germline PVs. Clinical characteristics and breast cancer subtypes were compared between carriers of BRCA2 c.5576_5579del and those with other PVs. Additionally, the detection rate of BRCA2 c.5576_5579del was compared with that observed in a previous report. Results: A total of 38 breast cancer patients were included; PVs in BRCA1 and BRCA2 were detected in 12 and 26 patients, respectively, 12 of whom were BRCA2 c.5576_5579del carriers. BRCA2 c.5576_5579del carriers were more likely to develop triple negative breast cancers among all BRCA2 PV carriers. BRCA2 c.5576_5579del accounted for 30.8% of the PVs detected, with a particularly high frequency of 72.7% at Kakogawa Central City Hospital. Conclusion: BRCA2 c.5576_5579del was detected with a particularly high frequency in Hyogo Prefecture, especially in Kakogawa city. In the future, a survey of the distribution of the BRCA2 c.5576_5579del carriers may provide more clarity regarding their localization.

[Comparison of Adverse Events during EC or TC Therapy for Breast Cancer at the Kakogawa Central City Hospital].

Docetaxel and cyclophosphamide (TC) and epirubicin and cyclophosphamide (EC) therapies are postoperative chemotherapy regimens for breast cancer. However, a previous study reported on the development of adverse events, such as neutropenia, in Asian patients. In this study, we examined the occurrence of neutropenia during chemotherapy, assessed the symptoms, and investigated the dose-reduction/discontinuation of chemotherapy or admission in patients undergoing postoperative EC or TC therapy following breast cancer surgery at our hospital between April 2018 and March 2020. EC and TC therapies were performed in 29 and 23 patients, respectively. We observed a significant difference in the incidence of neutropenia between the two therapies, although this observation might have been influenced by the frequent use of pegfilgrastim. In the TC therapy group, edema and pain were frequently observed. We observed no significant differences in the dose-reduction/discontinuation of chemotherapy or admission. However, in the TC therapy group, 5 patients required admission.

Bowel endometriosis treated with simultaneous ileocecal and rectal resection.

A 43-year-old female noticed hematochezia and lower-right abdominal pain during menstruation. Her family doctor detected a mass by computed tomography at the ileocecum. She was referred to our hospital and colonoscopy was performed. We observed extrinsic pressure resulting in mucosal change at the ileocecum. We also observed a submucosal tumor-like lesion at the rectosigmoid. We performed biopsy from both lesions, both were benign. Ileocecal resection and rectal low anterior resection were performed for diagnosis. Redness, induration and serosal dimpling were recognized at the ileocecum, rectosigmoid and upper rectum. All lesions had endometorial tissue in muscular layer, so pathological diagnosis was bowel endometriosis. Bowel endometriosis occurring in multiple parts and where two colectomies were performed simultaneously is very rare. To determine the optimal method of treatment for the bowel endometriosis, detailed preoperative examination must be performed, specifically complete surgical resection of the lesion for definite diagnosis.

[Case of the multiple liver metastases from colon cancer obtained long-term disease-free survival with multimodality therapy].

We report a case of multiple liver metastases from colon cancer initially thought to be incurable and review several literature cases. The patient has survived for 3 years without tumor relapse after multimodality therapy and surgical intervention was performed.