Hereditary neoplasia syndromes and the role of the surgeon

Fam Cancer. 2008;7(1):97-102. doi: 10.1007/s10689-007-9156-6. Epub 2007 Jul 24.

Abstract

The complex and often variable clinical presentations of patients with hereditary neoplasia syndromes mandates a multidisciplinary approach to management. The involvement of surgeons in the assessment and management of these patients is essential, in that the majority of patients affected with hereditary neoplasms will, at some point, require resection of the target organs affected by specific gene mutations, with prophylactic or therapeutic intent, or both. As the pathogenesis of the known hereditary neoplasia syndromes becomes better understood at the molecular level, innovative targeted therapies will, inevitably, supplant or replace surgery as the primary treatment modality for these diseases. Until that time, however, surgeons will continue to play a prominent role in the care of patients with hereditary neoplasia syndromes. As is already occurring within many other clinical specialties, the incorporation of at least a basic understanding of the genetic mechanisms of disease transmission and expression are essential within the surgical specialties, as the two cases presented herein demonstrate. In this paper, we present two cases that illustrate many of the challenges inherent in the surgical management of patients with hereditary neoplasia syndromes: a patient with attenuated familial adenomatous polyposis syndrome, and a patient with multiple endocrine neoplasia syndrome, type 2-B.

Publication types

  • Case Reports

MeSH terms

  • Adenomatous Polyposis Coli / diagnosis
  • Adenomatous Polyposis Coli / surgery*
  • Adult
  • Carcinoma, Medullary / diagnosis
  • Carcinoma, Medullary / genetics
  • Carcinoma, Medullary / surgery*
  • Colectomy
  • Female
  • Genetic Testing
  • Humans
  • Male
  • Multiple Endocrine Neoplasia Type 2b / complications
  • Multiple Endocrine Neoplasia Type 2b / diagnosis
  • Multiple Endocrine Neoplasia Type 2b / surgery*
  • Practice Patterns, Physicians'
  • Thyroid Neoplasms / diagnosis
  • Thyroid Neoplasms / genetics
  • Thyroid Neoplasms / surgery*
  • Thyroidectomy