TY - JOUR
T1 - Clinical features of biliary tract cancer in Japanese individuals with Lynch syndrome
AU - Kanaya, Nobuhiko
AU - Aoki, Hideki
AU - Morito, Toshiaki
AU - Taniguchi, Fumitaka
AU - Shigeyasu, Kunitoshi
AU - Tamura, Chieko
AU - Sugano, Kokichi
AU - Akagi, Kiwamu
AU - Ishida, Hideyuki
AU - Tanakaya, Kohji
N1 - Funding Information:
We would like to thank Editage (www.editage.com) for English language editing. Funding: This research was supported in part by the Dial Study from the Japan Agency for Medical Research and Development, AMED. The research was also supported by Japan AMED under the grant reference JP18kk0205004 and JSPS KAKENHI grant reference JP18K07339.
Publisher Copyright:
© Journal of Gastrointestinal Oncology. All rights reserved.
PY - 2022/10
Y1 - 2022/10
N2 - 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, 2:1). 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. Conclusions: MSI analysis could facilitate LS identification in individuals with BTC. Surveillance for BTC should be considered for MLH1 carriers in Japan.
AB - 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, 2:1). 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. Conclusions: MSI analysis could facilitate LS identification in individuals with BTC. Surveillance for BTC should be considered for MLH1 carriers in Japan.
KW - biliary tract cancer (BTC)
KW - cumulative risk
KW - Lynch syndrome (LS)
KW - microsatellite instability (MSI)
KW - mismatch repair gene (MMR gene)
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U2 - 10.21037/jgo-22-165
DO - 10.21037/jgo-22-165
M3 - Article
AN - SCOPUS:85141670048
SN - 2078-6891
VL - 13
SP - 2532
EP - 2538
JO - Journal of Gastrointestinal Oncology
JF - Journal of Gastrointestinal Oncology
IS - 5
ER -
