Hereditary urological cancer syndromes

Nat Clin Pract Urol. 2007 Apr;4(4):218-26. doi: 10.1038/ncpuro0761.

Abstract

Hereditary urological cancer syndromes are rare, but it is important that they are recognized because they have important prognostic implications; prompt diagnosis can dramatically improve patient outcomes. The urologist or urological oncologist should, therefore, ascertain which tumors of the many seen in clinical practice warrant referral for the opinion of a clinical geneticist. Despite the aggressive natural history of most inherited urological cancer syndromes, organ-preserving treatments are desirable because these syndromes predispose affected patients to the formation of multifocal and metachronous tumors. Identification of the molecular mechanisms that underlie carcinogenesis in both familial and sporadic urological cancers has, in some cases, resulted in novel and specifically targeted approaches to therapy. Patients who present with early-onset or multiple tumors should be carefully investigated for the presence of a hereditary cancer syndrome, and once a diagnosis is made, appropriate screening should be instigated for family members to enable early detection of tumors both within and outside the urogenital tract.

Publication types

  • Review

MeSH terms

  • Biopsy, Needle
  • Combined Modality Therapy
  • Early Diagnosis
  • Female
  • Genetic Counseling
  • Genetic Predisposition to Disease / epidemiology*
  • Genetic Testing
  • Humans
  • Immunohistochemistry
  • Incidence
  • Male
  • Neoplasm Invasiveness / pathology*
  • Neoplastic Syndromes, Hereditary / diagnosis*
  • Neoplastic Syndromes, Hereditary / epidemiology*
  • Neoplastic Syndromes, Hereditary / genetics
  • Neoplastic Syndromes, Hereditary / therapy
  • Prognosis
  • Risk Assessment
  • Survival Analysis
  • Urologic Neoplasms / diagnosis
  • Urologic Neoplasms / epidemiology*
  • Urologic Neoplasms / genetics*
  • Urologic Neoplasms / therapy