Molecular detection of low-level disease in patients with cancer

J Pathol. 2000 Jan;190(1):6-14. doi: 10.1002/(SICI)1096-9896(200001)190:1<6::AID-PATH486>3.0.CO;2-M.


The accurate detection of low-level disease in patients with cancer is essential to improve the staging of disease and consequently to define appropriate treatment strategies. Most methods currently used for staging are based on imaging studies and histological and immunocytochemical analysis of tissues such as bone marrow aspirates, or antibody assays for marker proteins secreted into the circulation. These methods have limited sensitivity. However, assays for nucleic acid-based markers may be valuable tools for the sensitive detection, assessment, and monitoring of disease status in asymptomatic cancer patients. Application of these methods may allow the early detection of cancer, when the tumour burden is smaller and the disease potentially more curable. The last decade has seen the application of polymerase chain reaction (PCR)-based methods to the detection of tumour in a wide variety of compartments, including peripheral blood, bone marrow, lymph nodes, urine, sputum, faeces, pancreatic juice, and more recently plasma. Molecular detection of disease by PCR has targeted DNA and RNA markers, including mutations, microsatellites, and tissue-specific gene expression. It is likely that these molecular methods will provide important clinical information, though their current clinical utility remains unclear. The current status of nucleic acid-based assays for the detection and assessment of disease status in the management of patients with solid tumours is reviewed.

Publication types

  • Review

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Chromosome Aberrations / diagnosis*
  • Chromosome Disorders
  • Cytogenetic Analysis
  • DNA, Neoplasm / analysis
  • Female
  • Genetic Markers
  • Humans
  • Male
  • Microsatellite Repeats
  • Middle Aged
  • Neoplasm Staging
  • Neoplasms / genetics
  • Neoplasms / pathology*
  • Polymerase Chain Reaction
  • Quality Assurance, Health Care
  • RNA, Neoplasm / analysis
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sensitivity and Specificity


  • DNA, Neoplasm
  • Genetic Markers
  • RNA, Neoplasm