Abe Kodai, Ueki Arisa, Urakawa Yusaku, Kitago Minoru, Yoshihama Tomoko, Nanki Yoshiko, Kitagawa Yuko, Aoki Daisuke, Kosaki Kenjiro, Hirasawa Akira
Department of Surgery, Keio University School of Medicine, Tokyo, Japan.
Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
Hered Cancer Clin Pract. 2021 Jan 7;19(1):5. doi: 10.1186/s13053-020-00160-z.
Family history is one of the risk factors for pancreatic cancer. It is suggested that patients with pancreatic cancer who have a familial history harbor germline pathogenic variants of BRCA1 and/or BRCA2 (BRCA1/2), PALB2, or ATM. Recently, some germline variants of familial pancreatic cancers (FPCs), including PALB2, have been detected. Several countries, including Japan, perform screening workups and genetic analysis for pancreatic cancers. We have been carrying out active surveillance for FPC through epidemiological surveys, imaging analyses, and genetic analysis.
Here, we present the case of a female patient harboring pathogenic variants of PALB2 and NBN, with a family history of multiple pancreatic cancer in her younger brother, her aunt, and her father. Moreover, her father harbored a PALB2 pathogenic variant and her daughter harbored the same NBN pathogenic variant. Given the PALB2 and NBN variants, we designed surveillance strategies for the pancreas, breast, and ovary.
Further studies are required to develop strategies for managing FPCs to facilitate prompt diagnosis before their progression.
家族史是胰腺癌的危险因素之一。有研究表明，有家族史的胰腺癌患者携带BRCA1和/或BRCA2（BRCA1/2）、PALB2或ATM的种系致病变体。最近，已检测到包括PALB2在内的一些家族性胰腺癌（FPC）的种系变体。包括日本在内的几个国家对胰腺癌进行筛查检查和基因分析。我们一直在通过流行病学调查、影像学分析和基因分析对FPC进行主动监测。
在此，我们报告一例携带PALB2和NBN致病变体的女性患者，其弟弟、姑姑和父亲均有胰腺癌家族史。此外，她的父亲携带PALB2致病变体，她的女儿携带相同的NBN致病变体。鉴于PALB2和NBN变体，我们设计了针对胰腺、乳腺和卵巢的监测策略。
需要进一步研究制定FPC的管理策略，以便在其进展之前促进早期诊断。
