A de novo germline APC mutation (3927del5) in a patient with familial adenomatous polyposis: Case report and literature review

Simon B. Zeichner, Naveen Raj, Mike Cusnir, Michael Francavilla, Alicia Hirzel

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

Introduction: Characterized by the development of hundreds to thousands of colonic adenomas, classic familial adenomatous polyposis (FAP) is one of the most common hereditary syndromes associated with an increased risk of colorectal cancer. Several studies have attempted to correlate specific APC mutations with clinical phenotype.6 However, there is considerable variability in the expression of specific phenotypes within families and among individuals with identical mutations.7 Case presentation: A 30 year-old Hispanic female presented to the emergency department with a 2-week history of persistent, worsening, left lower quadrant abdominal pain. She had no family history of malignancy. Sigmoidoscopy revealed innumerable polyps in the rectum and sigmoid colon and a large mass in the sigmoid colon. Biopsy of the mass revealed a moderately differentiated adenocarcinoma invading the subserosa. Endoscopy revealed innumerable polyps. Genetic testing of the patient via southern blot revealed a germline APC mutation 3927del5, resulting in a premature truncation of the APC protein at amino acid position 1312. Conclusion: Genetic information has only recently started being incorporated into clinical care. More research and randomized clinical trials need to be conducted to definitively characterize random mutations. Once these mutations are further understood, FAP patients may be able to be risk stratified and this may ultimately improve the screening, diagnosis, and treatment of this rare condition.

Original languageEnglish
Pages (from-to)315-323
Number of pages9
JournalClinical Medicine Insights: Oncology
Volume6
DOIs
StatePublished - Jan 1 2012
Externally publishedYes

Fingerprint

Adenomatous Polyposis Coli
Germ-Line Mutation
Sigmoid Colon
Polyps
Mutation
Sigmoidoscopy
Genetic Testing
Southern Blotting
Hispanic Americans
Rectum
Adenoma
Abdominal Pain
Endoscopy
Hospital Emergency Service
Colorectal Neoplasms
Adenocarcinoma
Randomized Controlled Trials
Phenotype
Biopsy
Amino Acids

Keywords

  • Colon cancer
  • Familial adenomatous polyposis
  • FAP
  • Sporadic mutation

ASJC Scopus subject areas

  • Oncology

Cite this

A de novo germline APC mutation (3927del5) in a patient with familial adenomatous polyposis : Case report and literature review. / Zeichner, Simon B.; Raj, Naveen; Cusnir, Mike; Francavilla, Michael; Hirzel, Alicia.

In: Clinical Medicine Insights: Oncology, Vol. 6, 01.01.2012, p. 315-323.

Research output: Contribution to journalArticle

Zeichner, Simon B. ; Raj, Naveen ; Cusnir, Mike ; Francavilla, Michael ; Hirzel, Alicia. / A de novo germline APC mutation (3927del5) in a patient with familial adenomatous polyposis : Case report and literature review. In: Clinical Medicine Insights: Oncology. 2012 ; Vol. 6. pp. 315-323.
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