The clinical relevance of microsatellite alterations in head and neck squamous cell carcinoma: a critical review

Eur J Hum Genet. 2007 Jul;15(7):734-41. doi: 10.1038/sj.ejhg.5201845. Epub 2007 May 2.


Triggered by the existing confusion in the field, the current paper aimed to review the current knowledge of both microsatellite instability (MSI) and loss of heterozygosity (LOH) detected by microsatellite markers in head and neck squamous cell carcinoma (HNSCC), and to provide the reader with an assessment of their prognostic and predictive value in this tumor type. For both MSI and LOH, various detection methods were included such as mono- and polynucleotidemarkers and gel- as well as automated analyses. Only studies based on PCR techniques with microsatellite markers were considered. Taking the methodological problems occurring in investigations with microsatellite markers into account, LOH seems to be more common than MSI in HNSCC. Although both types of microsatellite alterations have been correlated with clinicopathological features of this tumor type, only LOH seems to have a clear prognostic value. The predictive value of both MSI and LOH is debatable. More research has to be performed to clearly establish LOH detection as a translational application in the HNSCC field, aiming to predict response to treatments or outcome, and eventually to use as a therapeutic target.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Carcinoma, Squamous Cell / genetics*
  • DNA Mismatch Repair
  • Head and Neck Neoplasms / genetics*
  • Humans
  • Loss of Heterozygosity / genetics*
  • Microsatellite Instability*
  • Microsatellite Repeats / genetics*
  • Predictive Value of Tests
  • Prognosis