Hereditary leiomyomatosis and renal cell cancer （HLRCC） is a genetic disorder characterized by cutaneous and uterine leiomyomatosis and kidney cancer. It is also called ‘Reed syndrome’. The disease is caused by the heterozygous mutations in the fumarate hydratase （FH） gene, which is one of the enzymes of the tricarboxylic acid cycle and participates in fundamental metabolic pathways of energy production. HLRCC-associated renal cell carcinomas present highly aggressive and metastatic phenotypes. It is sometimes diagnosed in children and young adults. The early multidisciplinary treatment and family care are therefore very important for the patients with HLRCC as well as for family members at-risk.
Taking a detailed family history of cancer is necessary for management of breast cancer patients. We introduced a new medical history form in addition to the existing one to improve the quality of family history recording. The nurses explained the importance of collecting detailed family history by patients or their family members before request to fill out these new forms, while they handed over the existing forms without such explanations. In this study, we examined the difference in the information recorded by the new medical history form and the existing one in 91 patients with breast cancer. The numbers of records on family history of cancer obtained by the new medical history form were more than that by the existing one in many patients （54.9 percent of the patients）. 171 records on family history of cancer were obtained by the new medical history form and 89 records by the existing one in 91 patients. The amount of information on family history of cancer increased by adding the new medical history form in this study.
Genetic counseling for the genetic testing of Hereditary Breast and Ovarian Cancer (HBOC) will be needed in municipal hospitals based on recent revisions to the Breast Cancer guidelines and the introduction of PARP inhibitors using a companion diagnosis in Japan. We established a genetic counseling office in 2018 and started performing initial risk evaluations for breast cancer patients.
We provided information on HBOC for breast cancer patients meeting the criteria for an initial risk evaluation by the NCCN guidelines and conducted genetic counseling for candidates with a genetic specialist, nurse specialist, and attending doctor.
Approximately 20% of breast cancer patients meet the criteria for HBOC; however, only a few request genetic counseling and testing. The counseling office needs to be carefully managed because the number of patients requesting genetic counseling and testing will increase once the management of HBOC starts being covered by the national health insurance system.
Nurses at the cancer support center of Nagano Red Cross Hospital attend important meetings of the main department about counseling, decision support, advance care planning, case work and collaboration with palliative care wards/home palliative care in both inpatient and outpatient settings. A genomic medicine cooperation room was set up at this center, and a clinical geneticist and genetic counselor were assigned part-time to conduct continuous training. As a result, provision of consultation support, interventions and continuous follow-up became possible by holding genomic medicine-related meetings with the patient and their family. Interventions for intractable cancer performed at our center may help in assessing the indication of genomic tumor profiling, and support patients and their relatives. Cooperation between the main medical department and relevant departments, such as genetic services, clinical trial facilities and palliative care facilities, is expected to improve. It will also become possible to share information about the patient’s values and relationships with his/her family, appropriately address ethical issues and increase expertise.
Background : As the hereditary breast and ovarian cancer (HBOC) syndrome has been approved for medical insurance, treatment for this rare syndrome can now be provided by not only university hospitals but also general hospitals like our institute.
Purpose : We presented our process to decide how to handle genetic information using the electronic medical record system to introduce treatment for the HBOC syndrome to our hospital.
Methods : The introduction process was retrospectively presented.
Results : First, a genetic medical subcommittee in the hospital was established as a subordinate organization of the cancer medical subcommittee. Next, we discussed ways to handle the results of the genetic tests using the electronic medical record system. Finally, it was decided that we would handle them on the electronic medical record system as general medical information, ensuring a continuous attempt to keep genetic information secret at improving the work style of the staff involved. To achieve this, the following three measures were considered: knowledge sharing among the staff members using guidelines for handling genetic information, displaying the login records of the electronic medical record system to prevent the staff from browsing medical record without permission, and disclosing information about the introduction of HBOC medical care.
Discussion : As the provision of treatment for the HBOC syndrome expands, it is important to continuously educate the staff involved in the management of this disease by sharing the latest evidence on it.
Genetic testing is useful for the diagnosis and surveillance of pheochromocytoma in patients with suspected hereditary disease. We report a case of von Hippel-Lindau (VHL) disease in a woman who was treated with bilateral adrenalectomy and steroid administration and underwent successful pregnancy and delivery. A 35-year-old Japanese woman was diagnosed with bilateral pheochromocytoma at 13 years of age and underwent bilateral adrenalectomy and autotransplantation of the right adrenal cortex. She received steroid hormone replacement therapy and was referred to our hospital at 33 years of age. Blood tests and urinalysis revealed high catecholamine levels. Abdominal computed tomography revealed multiple tumors between the junction of the superior mesenteric artery and the left side of the aorta at the level of the lower kidney, and 131I-metaiodobenzylguanidine scintigraphy revealed uptake at the same sites. Therefore, we diagnosed the patient with recurrent pheochromocytoma and performed successful resection of the tumor, which was histopathologically confirmed as a composite paraganglioma-ganglioneuroma. Early tumor onset and recurrence led to the suspicion of hereditary disease, and genetic testing was performed. She was diagnosed with VHL disease with a c.191G>C (p.Arg64Pro) mutation in the VHL gene. Her pregnancy was detected at the time of this diagnosis, and she received dexamethasone (0.25mg) and hydrocortisone (10mg) throughout the pregnancy and delivery.
The hereditary breast and ovarian cancer syndrome （HBOC）, presenting an autosomal dominant inheritance pattern, is caused by germline pathogenic variant in the BRCA1/2 genes, which is associated with increased risk of cancer such as breast and ovarian cancer. We report a case of metachronous bilateral breast cancer strongly suspicious of HBOC from her family history. Through productive cooperation system of Japanese Organization of Hereditary Breast and Ovarian Cancer （JOHBOC）, she was diagnosed as HBOC（with a pathogenic variant of BRCA1） and treated by risk reducing salpingo-oophorectomy （RRSO）. Moreover, this cooperation system led to her sister’s genetic counseling with genetic tests and her decision of receiving RRSO after the diagnosis with a pathogenic variant of BRCA1.