Clinical features of biliary tract cancer in Japanese individuals with Lynch syndrome.

Kanaya, Nobuhiko; Aoki, Hideki; Morito, Toshiaki; Taniguchi, Fumitaka; Shigeyasu, Kunitoshi; Tamura, Chieko; Sugano, Kokichi; Akagi, Kiwamu; Ishida, Hideyuki; Tanakaya, Kohji

Kanaya, Nobuhiko; Aoki, Hideki; Morito, Toshiaki; Taniguchi, Fumitaka; Shigeyasu, Kunitoshi; Tamura, Chieko; Sugano, Kokichi; Akagi, Kiwamu; Ishida, Hideyuki; Tanakaya, Kohji.

Afiliação

Kanaya N; Department of Surgery, Iwakuni Clinical Center, Yamaguchi, Japan.
Aoki H; Department of Neurosurgery, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Morito T; Department of Surgery, Iwakuni Clinical Center, Yamaguchi, Japan.
Taniguchi F; Department of Pathology, Iwakuni Clinical Center, Yamaguchi, Japan.
Shigeyasu K; Department of Pathology, Kagawa Rosai Hospital, Kagawa, Japan.
Tamura C; Department of Surgery, Iwakuni Clinical Center, Yamaguchi, Japan.
Sugano K; Department of Surgery, Iwakuni Clinical Center, Yamaguchi, Japan.
Akagi K; Department of Gastroenterological Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.
Ishida H; Medical Information & Genetic Counseling Division, FMC Tokyo Clinic, Tokyo, Japan.
Tanakaya K; Department of Genetic Medicine, Kyoundo Hospital, Sasaki Foundation, Tokyo, Japan.

J Gastrointest Oncol ; 13(5): 2532-2538, 2022 Oct.

Article em En | MEDLINE | ID: mdl-36388648

ABSTRACT

ABSTRACT

Background:

Biliary tract cancer (BTC) is a Lynch syndrome (LS)-associated cancer with a high mortality rate. This study aimed to clarify the clinical features of BTC in individuals with LS and to discuss its management.

Methods:

We obtained data from genetically verified Japanese individuals with LS who were diagnosed at a single institution, between January 2003 and April 2021. Moreover, 21 individuals with sporadic BTC (n=15) and LS associated BTC (n=6) underwent microsatellite instability (MSI) testing.

Results:

Among 92 individuals with LS, 6 individuals with MLH1 variants developed BTCs (10 lesions, male/female, 21). The median age at diagnosis of initial BTC was 69 years (range, 34-78 years). Histological examination revealed a predominance of differentiated adenocarcinoma (89%). Then, 2 individuals had multiple BTCs. All available 7 BTC lesions showed high-frequency of microsatellite instability (MSI-H). MLH1 carriers showed a 7.2% cumulative risk of BTC development at an age of 70 years. Five of the six individuals died of BTC.