Journal of Hereditary Tumors
Online ISSN : 2435-6808
Volume 23, Issue 2
Displaying 1-5 of 5 articles from this issue
Original
  • Yuko Tsunoda, Naomi Sakamoto, Mika Nashimoto, Hirotaka Seki, Kizuki Ma ...
    Article type: Original
    2023 Volume 23 Issue 2 Pages 50-54
    Published: September 30, 2023
    Released on J-STAGE: September 30, 2023
    JOURNAL OPEN ACCESS

     One of the risk factors for bilateral breast cancer is the family history, and the experience cases of bilateral breast cancer are increasing due to the progress of diagnostic imaging, and the improvement of postoperative survival rate. The characteristics of metachronous bilateral breast cancer with the family history experienced in this hospital were examined. Among 48 cases of metachronous bilateral breast cancer experienced in our hospital from January 2014 to December 2016, 12 were cases with family history and 7 (58%) were first-degree relative. Metachronous bilateral breast cancers in first-degree relative had a large number of early breast cancers of stage0-1, and the hormone receptor was positive and HER2 negative. Patients with a first-degree relative for family history were 5 years younger than those who had no family history, and the duration of the first and second cancers was more 5 years. The local recurrence of group with a first-degree relative for family history was significantly higher than without family history (p= 0.001). For the patient of the younger generation with the family history, the long-term follow-up considering the metachronous bilateral breast cancer is necessary.

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Case report
  • Fumio Asano, Mai Momomura, Tohru Morisada, Yumi Haruna, Noriko Tomioka ...
    Article type: case-report
    2023 Volume 23 Issue 2 Pages 55-59
    Published: September 30, 2023
    Released on J-STAGE: September 30, 2023
    JOURNAL OPEN ACCESS

     Neurofibromatosis type 1 is a genetic disorder caused by the NF1 gene that is associated with increased susceptibility to other neoplasms. Here, we report a case of high-grade serous ovarian carcinoma in a patient with neurofibromatosis type 1. A 60-year-old woman visited a previous hospital due to dyspnea. The intensive examination revealed pleural effusions due to ovarian cancer, and she was referred to our institution. She was diagnosed with neurofibromatosis type 1 at the age of 32 years, and her mother and sister had the same diagnosis.

     Interval debulking surgery (total abdominal hysterectomy+ bilateral salpingo-oophorectomy+ omentectomy+ peritoneal nodule resection) was performed after neoadjuvant chemotherapy with a decrease in pleural effusions. The pathological diagnosis was high-grade serous ovarian carcinoma. Although she received adjuvant chemotherapy, she experienced several recurrences. She died of ovarian cancer at the age of 64 years. Some studies have reported that the NF1 gene is a tumor suppressor gene and individuals with neurofibromatosis type 1 can develop a wide variety of neoplasms, including serous ovarian carcinoma. It is necessary to accumulate cases which will lead to a better understanding of the molecular mechanisms, including the NF1 gene, involved in the development of high-grade serous ovarian carcinoma in neurofibromatosis type 1, and to the development of effective therapeutic strategies.

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  • Sayaka Ueno, Sawako Toji, Yusaku Urakawa, Tomoya Minami, Hiromi Sugawa ...
    Article type: case-report
    2023 Volume 23 Issue 2 Pages 60-66
    Published: September 30, 2023
    Released on J-STAGE: September 30, 2023
    JOURNAL OPEN ACCESS

     Cancer genomic profiling (CGP) test may reveal presumed germline pathogenic variant / germline pathogenic variant (PGPV/GPV). Therefore, patients should decide in advance whether or not they want to learn about their PGPV/GPVs. We report a case in which the patient changed the mind 7 months after the CGP test. A 67-year-old female patient with lung cancer underwent CGP testing because of disease progression after primary treatment with cytotoxic anti-cancer drugs. Although she initially did not want to learn her PGPVs and did not change her mind when she heard the results of the CGP test, she changed her mind and requested disclosure of PGPVs 7 months later. When she heard the result of CGP test, she was full of anxiety about her next treatment and complained of hyposomnia. Mental support by a professional nurse and follow-up by a by a cancer genome medical coordinator (CGMC) enabled her to discuss with her family how to deal with PGPVs. A confirmatory test verified the germline pathogenic variant. The patient's daughters were followed up at the genetic clinic. In this case, the collaboration among nurses, doctors, and the genetic medicine department coordinated by the CGMC strongly supported the patient's decision-making process. In this report, we present our approach in establishing collaboration among various healthcare professionals.

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Clinical Experience
  • Daisuke Takabatake
    Article type: Clinical Experience
    2023 Volume 23 Issue 2 Pages 67-72
    Published: September 30, 2023
    Released on J-STAGE: September 30, 2023
    JOURNAL OPEN ACCESS

     In accordance with the Ministry of Health, Labour and Welfare's basic plan for promotion of cancer control, almost all prefectures are establishing a system that enables the provision of cancer genomic medicine under insurance coverage, but in reality there are regional disparities due to various factors. Cancer Genome Medicine Cooperation Hospitals in rural areas continue to provide cancer genome medicine while struggling with issues such as a shortage of human resources, difficulty in accessing clinical trials,and a lack of understanding of cancer genome medicine.Since April 2019, our hospital has been certified as cancer genome medicine cooperation hospital and has conducted comprehensive genome profiling(CGP)tests in 44 cases. Of these, only 4 patients received genomically-matched therapies, and the proportion of matched therapies was 9%. Except for one pancreas cancer patient with BRCA1 germline variant, no patients arrived the matched therapy among common cancer such as colon or lung. The reason of low proportion of matched therapy is mostly due to the small number of actionable variant, but also include the difficulty of access to clinical trials, lack of awareness of cancer genomic medicine in the community, and lack of interest among medical staff. Although there is no immediate effective solution to these issues, it is necessary to continue accumulating each cases and improving in-house provision system.

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