Case report
Primary appendiceal mucinous adenocarcinoma in two first-degree relatives: case report and review
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* Corresponding author: Noralane M Lindor nlindor@mayo.edu
1 University of North Dakota Medical School, 501 N. Columbia Road STOP 9037, Grand Forks, 58202-9037, ND, USA
2 Division of Biomedical Statistics and Informatics, Mayo Clinic 200 First Street SW, Rochester, MN, 55905, USA
3 Departments of Obstetrics-Gynecology & Medical Genetics, Mayo Clinic, 200 First Street SW, Rochester, 55905, MN, USA
4 Kifisias Avenue, 3rd floor, Athens 115 23, Greece
5 Department of Medical Genetics, Mayo Clinic, 200 First Street SW, Rochester, 55905, MN, USA
Hereditary Cancer in Clinical Practice 2011, 9:1 doi:10.1186/1897-4287-9-1
Published: 4 May 2011Abstract
Carcinomas of the appendix are exceedingly rare tumors and have an annual age-adjusted incidence of around 0.4 cases per 100,000. Appendiceal adenocarcinoma accounts for < 0.5% of all gastrointestinal neoplasms and, of these, mucinous adenocarcinomas account for the majority. Published accounts of familial instances of primary appendiceal tumors are strikingly rare. We report two siblings who both developed primary mucinous adenocarcinomas. A genetics evaluation was conducted to determine if there was a recognizable underlying single gene disorder; no DNA mismatch repair defect was evident, and no other diagnosis was apparent. A review of appendiceal cancers seen at Mayo Clinic from l997 to the present was conducted to search for additional familial cases. Among 316 cases of primary appendiceal cancer of any histologic type, this sib pair was the only family reporting a second affected family member. The occurrence of appendiceal cancer in siblings may represent a random occurrence. An exceedingly rare predisposition syndrome cannot be ruled out.