Colorectal cancer and advanced adenoma characteristics according to causative mismatch repair gene variant in Japanese colorectal surveillance for Lynch syndrome.

Advanced adenoma Interval colorectal cancer Lynch syndrome Quality indicator Surveillance stratification

Journal

Journal of gastroenterology
ISSN: 1435-5922
Titre abrégé: J Gastroenterol
Pays: Japan
ID NLM: 9430794

Informations de publication

Date de publication:
21 Jun 2024
Historique:
received: 30 03 2024
accepted: 12 06 2024
medline: 21 6 2024
pubmed: 21 6 2024
entrez: 20 6 2024
Statut: aheadofprint

Résumé

The optimal interval of colonoscopy (CS) surveillance in cases with Lynch syndrome (LS), and stratification according to the causative mismatch repair gene mutation, has received much attention. To verify a feasible and effective CS surveillance strategy, we investigated the colorectal cancer (CRC) incidence at different intervals and the characteristics of precancerous colorectal lesions of LS cases. This retrospective multicenter study was conducted in Japan. CRCs and advanced adenomas (AAs) in 316 LS cases with germline pathogenic variants (path_) were analyzed according to the data of 1,756 registered CS. The mean time interval for advanced CRCs (ACs) detected via CS surveillance was 28.7 months (95% confidence interval: 13.8-43.5). The rate of AC detection within (2.1%) and beyond 2 years (8.7%) differed significantly (p = 0.0003). AAs accounted for 43%, 46%, and 41% of lesions < 10 mm in size in the MLH1-, MSH2-, and MSH6-groups, respectively. The lifetime incidence of metachronous CRCs requiring intestinal resection for path_MLH1, path_MSH2, and path_MSH6 cases was 34%, 23%, and 14% in these cases, respectively. The cumulative CRC incidence showed a trend towards a 10-year delay for path_MSH6 cases as compared with that for path_MLH1 and path_MSH2 cases. In cases with path_MLH1, path_MSH2, and path_MSH6, maintaining an appropriate CS surveillance interval of within 2 years is advisable to detect of the colorectal lesion amenable to endoscopic treatment. path_MSH6 cases could be stratified with path_MLH1 and MSH2 cases in terms of risk of metachronous CRC and age of onset.

Sections du résumé

BACKGROUND BACKGROUND
The optimal interval of colonoscopy (CS) surveillance in cases with Lynch syndrome (LS), and stratification according to the causative mismatch repair gene mutation, has received much attention. To verify a feasible and effective CS surveillance strategy, we investigated the colorectal cancer (CRC) incidence at different intervals and the characteristics of precancerous colorectal lesions of LS cases.
METHODS METHODS
This retrospective multicenter study was conducted in Japan. CRCs and advanced adenomas (AAs) in 316 LS cases with germline pathogenic variants (path_) were analyzed according to the data of 1,756 registered CS.
RESULTS RESULTS
The mean time interval for advanced CRCs (ACs) detected via CS surveillance was 28.7 months (95% confidence interval: 13.8-43.5). The rate of AC detection within (2.1%) and beyond 2 years (8.7%) differed significantly (p = 0.0003). AAs accounted for 43%, 46%, and 41% of lesions < 10 mm in size in the MLH1-, MSH2-, and MSH6-groups, respectively. The lifetime incidence of metachronous CRCs requiring intestinal resection for path_MLH1, path_MSH2, and path_MSH6 cases was 34%, 23%, and 14% in these cases, respectively. The cumulative CRC incidence showed a trend towards a 10-year delay for path_MSH6 cases as compared with that for path_MLH1 and path_MSH2 cases.
CONCLUSIONS CONCLUSIONS
In cases with path_MLH1, path_MSH2, and path_MSH6, maintaining an appropriate CS surveillance interval of within 2 years is advisable to detect of the colorectal lesion amenable to endoscopic treatment. path_MSH6 cases could be stratified with path_MLH1 and MSH2 cases in terms of risk of metachronous CRC and age of onset.

Identifiants

pubmed: 38902413
doi: 10.1007/s00535-024-02128-5
pii: 10.1007/s00535-024-02128-5
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

© 2024. Japanese Society of Gastroenterology.

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Auteurs

Akiko Chino (A)

Department of Gastroenterology, Cancer Institute Hospital, Japanese Foundation for Cancer Research, 3-8-31 Ariake, Koto-hu, Tokyo, 138-8550, Japan. akiko.chino@jfcr.or.jp.
The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan. akiko.chino@jfcr.or.jp.

Kohji Tanakaya (K)

The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan.
Department of Surgery, National Hospital Organization Iwakuni Clinical Center, Yamaguchi, Japan.

Takeshi Nakajima (T)

The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan.
Department of Clinical Genetics, Cancer Institute Hospital, Japanese Foundation for Cancer Research, Tokyo, Japan.
Department of Medical Ethics Medical Genetics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

Kiwamu Akagi (K)

The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan.
Department of Molecular Diagnosis and Cancer Prevention, Saitama Cancer Center, Saitama, Japan.

Akinari Takao (A)

The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan.
Department of Gastroenterology, Tokyo Metropolitan Cancer and Infectious Diseases Center, Komagome Hospital, Tokyo, Japan.

Masayoshi Yamada (M)

The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan.
Endoscopy Division, National Cancer Center Hospital, Tokyo, Japan.

Hideyuki Ishida (H)

The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan.
Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University, Saitama, Japan.

Koji Komori (K)

The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan.
Department of Gastroenterological Surgery, Aichi Cancer Center Hospital, Aichi, Japan.

Kazuhito Sasaki (K)

The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan.
Department of Surgical Oncology, Faculty of Medicine, The University of Tokyo, Tokyo, Japan.

Masashi Miguchi (M)

The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan.
Department of Gastroenterological Surgery, Hiroshima Prefectural Hospital, Hiroshima, Japan.

Keiji Hirata (K)

The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan.
Department of Surgery 1, University of Occupational and Environmental Health, Kitakyushu, Japan.

Tomoya Sudo (T)

The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan.
Department of Surgery, Kurume University, Fukuoka, Japan.

Yasuyuki Miyakura (Y)

The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan.
Department of Surgery, Saitama Medical Center, Jichi Medical University, Saitama, Japan.

Toshiaki Ishikawa (T)

The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan.
Department of Surgery, Tokyo Medical and Dental University, Tokyo, Japan.
Department of Medical Oncology, Juntendo University, Tokyo, Japan.

Tatsuro Yamaguchi (T)

The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan.
Department of Gastroenterology, Tokyo Metropolitan Cancer and Infectious Diseases Center, Komagome Hospital, Tokyo, Japan.

Naohiro Tomita (N)

The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan.
Cancer Treatment Center, Toyonaka Municipal Hospital, Osaka, Japan.

Yoichi Ajioka (Y)

The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan.
Division of Molecular and Diagnostic Pathology, Graduate School of Medical and Dental Sciences, Niigata University, Niigata, Japan.

Classifications MeSH