Primary appendiceal mucinous adenocarcinoma in two first-degree relatives: Case report and review

Adrianne R. Racek, Kari G. Rabe, Myra J Wick, Apostolos Psychogios, Noralane Morey Lindor

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Article number1
JournalHereditary Cancer in Clinical Practice
Volume9
Issue number1
DOIs
StatePublished - May 4 2011

Fingerprint

Appendiceal Neoplasms
Mucinous Adenocarcinoma
Siblings
DNA Mismatch Repair
Gastrointestinal Neoplasms
Neoplasms
Adenocarcinoma
Carcinoma
Incidence
Genes

ASJC Scopus subject areas

  • Oncology
  • Genetics(clinical)

Cite this

Primary appendiceal mucinous adenocarcinoma in two first-degree relatives : Case report and review. / Racek, Adrianne R.; Rabe, Kari G.; Wick, Myra J; Psychogios, Apostolos; Lindor, Noralane Morey.

In: Hereditary Cancer in Clinical Practice, Vol. 9, No. 1, 1, 04.05.2011.

Research output: Contribution to journalArticle

@article{9c0ef1edd3cf42199eb068a7bcbe1cc2,
title = "Primary appendiceal mucinous adenocarcinoma in two first-degree relatives: Case report and review",
abstract = "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.",
author = "Racek, {Adrianne R.} and Rabe, {Kari G.} and Wick, {Myra J} and Apostolos Psychogios and Lindor, {Noralane Morey}",
year = "2011",
month = "5",
day = "4",
doi = "10.1186/1897-4287-9-1",
language = "English (US)",
volume = "9",
journal = "Hereditary Cancer in Clinical Practice",
issn = "1731-2302",
publisher = "BioMed Central",
number = "1",

}

TY - JOUR

T1 - Primary appendiceal mucinous adenocarcinoma in two first-degree relatives

T2 - Case report and review

AU - Racek, Adrianne R.

AU - Rabe, Kari G.

AU - Wick, Myra J

AU - Psychogios, Apostolos

AU - Lindor, Noralane Morey

PY - 2011/5/4

Y1 - 2011/5/4

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=80051749372&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=80051749372&partnerID=8YFLogxK

U2 - 10.1186/1897-4287-9-1

DO - 10.1186/1897-4287-9-1

M3 - Article

C2 - 21542938

AN - SCOPUS:80051749372

VL - 9

JO - Hereditary Cancer in Clinical Practice

JF - Hereditary Cancer in Clinical Practice

SN - 1731-2302

IS - 1

M1 - 1

ER -