Early detection of metachronous bile duct cancer in Lynch syndrome: report of a case

Surg Today. 2014 Oct;44(10):1975-81. doi: 10.1007/s00595-013-0669-3. Epub 2013 Jul 31.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics
  • Adenocarcinoma, Papillary / diagnosis*
  • Adenocarcinoma, Papillary / genetics
  • Adenocarcinoma, Papillary / surgery
  • Aged
  • Bile Duct Neoplasms / diagnosis*
  • Bile Duct Neoplasms / genetics
  • Bile Duct Neoplasms / surgery
  • Biliary Tract Surgical Procedures
  • Colorectal Neoplasms, Hereditary Nonpolyposis* / diagnosis
  • Colorectal Neoplasms, Hereditary Nonpolyposis* / genetics
  • Colorectal Neoplasms, Hereditary Nonpolyposis* / surgery
  • Early Diagnosis
  • Germ-Line Mutation
  • Hepatectomy
  • Humans
  • Liver Neoplasms / diagnosis
  • Liver Neoplasms / secondary
  • Liver Neoplasms / surgery
  • Male
  • Microsatellite Instability
  • MutL Protein Homolog 1
  • Neoplasms, Multiple Primary*
  • Nuclear Proteins / genetics
  • Pedigree

Substances

  • Adaptor Proteins, Signal Transducing
  • MLH1 protein, human
  • Nuclear Proteins
  • MutL Protein Homolog 1