학술논문
HBOC診療における膵腫瘍のマネジメント / The management of pancreatic tumor in hereditary breast and ovarian cancer syndrome
Document Type
Journal Article
Author
Daisuke Aoki; Ikumi Ono; Ken Funakoshi; Kenjiro Kosaki; Kenta Masuda; Kodai Abe; Kohei Nakamura; Kumiko Misu; Mari Takeuchi; Minoru Kitago; Takeo Kosaka; Tomoka Uchida; Tomoko Seki; Yuko Kitagawa; Yusuke Kobayashi; 三須 久美子; 中村 康平; 内田 明花; 北川 雄光; 北郷 実; 増田 健太; 小坂 威雄; 小崎 健次郎; 小林 佑介; 小野 伊久美; 竹内 麻理; 舩越 建; 関 朋子; 阿部 紘大; 青木 大輔
Source
遺伝性腫瘍 / Journal of Hereditary Tumors. 2023, 23(1):12
Subject
Language
Japanese
ISSN
2435-6808
Abstract
It is known that 1-3% of BRCA1 pathogenic variant carriers and 2-7% of BRCA2 pathogenic variant carriers develop pancreatic cancer in their lifetime. Recruitment and surveillance of hereditary or familial pancreatic cancer families as high-risk individuals for pancreatic cancer using magnetic resonance cholangiopancreatography (MRCP) and/or endoscopic ultrasonography (EUS), showed to improve the early detection rate and overall survival rate of pancreatic cancer. Therefore, the Hereditary Breast and Ovarian Cancer syndrome (HBOC) Clinical Guideline 2021 recommends pancreatic surveillance for patients with a strong family history of pancreatic cancer or with pathogenic variants of a total of 10 genes including BRCA1/2. In April 2021, the HBOC Center was established by seven departments of Obstetrics and Gynecology, Gastroenterological Surgery (Breast, Hepatobiliary and Pancreas), Urology, Center for Medical Genetics, and Oncology Center, and since October 2021, the department of dermatology, psychiatry and neuroscience have also joined the center, which now operates as nine departments. Pancreatic surveillance has been performed by MRCP or EUS once or twice a year, and we focus on intraductal papillary mucinous neoplasm (IPMN), a precancerous lesion of pancreatic cancer detected during the surveillance, in order not only to explore the risk and interaction of environmental and genetic factors, but also to work on early detection and prevention before IPMN becomes malignant. Furthermore, in January 2021, the germline BRCA1/2 genetic testing for pancreatic cancer as well as breast and ovarian cancer will be covered by insurance as a companion diagnosis to poly ADP-ribose polymerase (PARP) inhibitors, and the test is becoming widely used in our hospital for pancreatic cancer patients, but the indication is still limited only to metastatic pancreatic cancer and insurance has not been covered for HBOC diagnosis or pancreatic cancer surveillance. We believe that it is essential to promote BRCA1/2 genetic testing, as well as genetic counseling, for prevention and early detection of pancreatic cancer in high-risk individuals as well as HBOC syndrome.