川崎 優子

BACKGROUND AND AIM: Peutz-Jeghers syndrome (PJS) and juvenile polyposis syndrome (JPS) are autosomal dominant diseases associated with high cancer risk. In Japan, knowledge about the prevalence and incidence of PJS and JPS is lacking despite being crucial for providing appropriate medical support. We aimed to determine the prevalence and incidence of these diseases. METHODS: In 2022, a nationwide questionnaire survey was conducted to determine the number of patients with PJS or JPS by sex and the number of newly confirmed cases from 2019 to 2021. The target facilities included gastroenterology, pediatrics, and pediatric surgery departments, which were stratified into seven classes on the basis of the total number of beds. We randomly selected target facilities using different extraction rates in each class, resulting in 1748/2912 facilities (extraction rate: 60%) as the final sample. We calculated the estimated number of patients using the response and extraction rates. RESULTS: A total of 1077 facilities responded to the survey. The estimated numbers of patients with PJS and JPS were 701 (95% confidence interval [CI]: 581-820) and 188 (95% CI: 147-230), respectively. The 3-year period prevalences of PJS and JPS were 0.6/100000 and 0.15/100000, whereas the incidences in 2021 were 0.07/100000 and 0.02/100000, respectively. Male patients constituted 53.5% and 59.6% in the PJS and JPS groups, respectively. CONCLUSIONS: We determined the prevalence and incidence of PJS and JPS in Japan for the first time. Further research is needed to obtain more detailed information, including the clinical differences and outcomes in Japan.

(1) Background: The number of patients with cancer undergoing cancer genome profiling is increasing; however, it remains unclear how accurately they understand the details of the tests and treatments. This study aimed to clarify the awareness of cancer genome profiling tests among patients with cancer who visited cancer genome medical clinics. (2) Methods: A questionnaire survey was conducted on awareness, anxiety, sources of information, and psychological states concerning cancer genome profiling tests. (3) Results: In total, 265 patients with cancer (117 men, 142 women, 6 no response, average age of 58.29 ± 11.9 years) were included in the study, of which 218 (82.3%) were aware of the term "cancer genomic medicine" and 90 (34.0%) were aware of its details. Thus, only a few respondents understood that cancer genome profiling tests facilitate the discovery of secondary findings and of genes associated with hereditary tumors. Regarding their psychological state when visiting the cancer genome clinic, the respondents were anxious about standard treatment and prognosis limits. (4) Conclusions: From the viewpoint of advance care planning, we suggest that medical professionals build a support system that links palliative care and cancer treatment and coordinates genetic counseling at an early stage.

OBJECTIVES: This study was performed to examine the content of decision-making support and patient responses, as documented in the nursing records of individuals with cancer. These patients had received outpatient treatment at hospitals that met government requirements for providing specialized cancer care. METHODS: Nursing records from the electronic medical record system (in the subjective, objective, assessment, and plan [SOAP] format), along with data from interviews, were extracted for patients receiving outpatient care at the Department of Internal Medicine and Palliative Care and the Department of Breast Oncology. Data analysis involved simple tabulation and text mining, utilizing KH Coder version 3.beta.07d. RESULTS: The study included 42 patients from palliative care internal medicine and 60 from breast oncology, with mean ages of 70.5 ± 12.2 and 55.8 ± 12.2 years, respectively. Decisions most frequently regarded palliative care unit admission (25 cases) and genetic testing (24 cases). The assessment category covered keywords including (1) "pain," "treatment," "future," "recuperation," and "home," as terms related to palliative care and internal medicine, as well as (2) "treatment," "relief," and "genetics" as terms related to breast oncology. The plan category incorporated keywords such as (1) "treatment," "relaxation," and "visit" and (2) "explanation," "confirmation," and "conveyance." CONCLUSIONS: Nurses appear crucial in evaluating patients' symptoms and treatment paths during the decision-making support process, helping them make informed choices about future treatments, care settings, and genetic testing. However, when patients cannot make a decision solely based on the information provided, clinicians must address complex psychological concepts such as disease progression and the potential genetic impact on their children. Further detailed observational studies of nurses' responses to patients' psychological reactions are warranted.