Molecular testing of solid tumors

Arch Pathol Lab Med. 2011 Jan;135(1):67-82. doi: 10.5858/2010-0413-RAR.1.


Context: Molecular testing of solid tumors is steadily becoming a vital component of the contemporary anatomic pathologist's armamentarium. These sensitive and specific ancillary tools are useful for confirming ambiguous diagnoses suspected by light microscopy and for guiding therapeutic decisions, assessing prognosis, and monitoring patients for residual neoplastic disease after therapy.

Objective: To review current molecular biomarkers and tumor-specific assays most useful in solid tumor testing, specifically of breast, colon, lung, thyroid, and soft tissue tumors, malignant melanoma, and tumors of unknown origin. A few upcoming molecular diagnostic assays that may become standard of care in the near future will also be discussed.

Data sources: Original research articles, review articles, and the authors' personal practice experience.

Conclusions: Molecular testing in anatomic pathology is firmly established and will continue to gain ground as the need for more specific diagnoses and new targeted therapies evolve. Knowledge of the more common and clinically relevant molecular tests available for solid tumor diagnosis and management, and their indications and limitations, is necessary if anatomic pathologists are to optimally use these tests and act as consultants for fellow clinicians directly involved in patient care.

Publication types

  • Review

MeSH terms

  • Biomarkers, Tumor / genetics
  • Chromosome Aberrations
  • Gene Rearrangement
  • Humans
  • Molecular Diagnostic Techniques
  • Mutation
  • Neoplasm Invasiveness
  • Neoplasm Metastasis
  • Neoplasms / diagnosis
  • Neoplasms / genetics*
  • Neoplasms / pathology
  • Translocation, Genetic


  • Biomarkers, Tumor