title: Early detection of metachronous bile duct cancer in Lynch syndrome: report of a case.
abstract: Lynch syndrome is an autosomal dominant disease associated with a high incidence of colorectal, endometrial, stomach, ovarian, pancreatic, ureter and renal pelvis, bile duct and brain tumors. The syndrome can also include sebaceous gland adenomas and keratoacanthomas, and carcinoma of the small bowel. The lifetime risk for bile duct cancer in patients with Lynch syndrome is approximately 2 %. The present report describes a case of Lynch syndrome with metachronous bile duct cancer diagnosed at an early stage. The patient was a 73-year-old Japanese male who underwent a successful left lobectomy of the liver, and there was no sign of recurrence for 2 years postoperative. However, this patient harbored a germline mutation in MLH1, which prompted diagnostic examinations for noncolorectal tumors when a periodic surveillance blood examination showed abnormal values of hepatobiliary enzymes. Although most patients with bile duct cancer are diagnosed at an advanced stage, the bile duct cancer was diagnosed at an early stage in the present patient due to the observation of the gene mutation and the preceding liver tumor. This case illustrates the importance of continuous surveillance for extracolonic tumors, including bile duct cancer, in patients with Lynch syndrome.
authors.affiliation: Department of Surgery, Iwakuni Clinical Center, Yamaguchi, Japan, gmd421045@s.okayama-u.ac.jp.
authors.forename: Kunitoshi
authors.initials: K
authors.lastname: Shigeyasu
authors.forename: Kohji
authors.initials: K
authors.lastname: Tanakaya
authors.forename: Takeshi
authors.initials: T
authors.lastname: Nagasaka
authors.forename: Hideki
authors.initials: H
authors.lastname: Aoki
authors.forename: Toshiyoshi
authors.initials: T
authors.lastname: Fujiwara
authors.forename: Kokichi
authors.initials: K
authors.lastname: Sugano
authors.forename: Hideki
authors.initials: H
authors.lastname: Ishikawa
authors.forename: Teruhiko
authors.initials: T
authors.lastname: Yoshida
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Moriya
authors.forename: Yoichi
authors.initials: Y
authors.lastname: Furukawa
authors.forename: Ajay
authors.initials: A
authors.lastname: Goel
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Takeuchi
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D000231:Adenocarcinoma, Papillary / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D000368:Aged; D001650:Bile Duct Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D001662:Biliary Tract Surgical Procedures; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D042241:Early Diagnosis; D018095:Germ-Line Mutation; D006498:Hepatectomy; D006801:Humans; D008113:Liver Neoplasms / Q000175:diagnosis / Q000556:secondary / Q000601:surgery; D008297:Male; D053842:Microsatellite Instability; D000070957:MutL Protein Homolog 1; D009378:Neoplasms, Multiple Primary; D009687:Nuclear Proteins / Q000235:genetics; D010375:Pedigree
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C501486:MLH1 protein, human; D009687:Nuclear Proteins; D000070957:MutL Protein Homolog 1
references.citation: N Engl J Med. 2003 Mar 6;348(10):919-32
references.pmid: 12621137
references.citation: J Natl Cancer Inst. 2012 Sep 19;104(18):1363-72
references.pmid: 22933731
references.citation: J Med Genet. 2007 Jun;44(6):353-62
references.pmid: 17327285
references.citation: Gastrointest Endosc. 2009 Jul;70(1):29-36
references.pmid: 19286177
references.citation: Cancer. 2002 Mar 15;94(6):1708-12
references.pmid: 11920532
references.citation: Eur J Gastroenterol Hepatol. 2005 Feb;17(2):213-9
references.pmid: 15674100
references.citation: Dis Colon Rectum. 2002 Dec;45(12):1588-94
references.pmid: 12473880
references.citation: J Natl Cancer Inst. 2004 Feb 18;96(4):261-8
references.pmid: 14970275
references.citation: Nihon Shokakibyo Gakkai Zasshi. 2006 May;103(5):495-500
references.pmid: 16734254
references.citation: Cancer. 1992 Mar 1;69(5):1112-4
references.pmid: 1310886
references.citation: J Med Genet. 2004 Jul;41(7):e95
references.pmid: 15235038
references.citation: Cancer Detect Prev. 2000;24(2):137-42
references.pmid: 10917133
references.citation: Gastroenterology. 2006 Mar;130(3):665-71
references.pmid: 16530507
references.citation: Int J Cancer. 2007 Feb 15;120(4):821-4
references.pmid: 17096354
references.citation: Gastroenterology. 2000 May;118(5):829-34
references.pmid: 10784581
references.citation: Gynecol Oncol. 2003 Oct;91(1):74-80
references.pmid: 14529665
references.citation: Fam Cancer. 2008;7(2):163-72
references.pmid: 17939062