Analysis of microsatellite instability in human leukemia

Dina Ben-Yehuda*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


One of the most important advances in the field of cancer is the recent finding of the role of DNA instability in carcinogenesis. Based on the high frequency of chromosomal abnormalities and mutations in human cancer, it has long been considered that genetic instability is an integral component of human neoplasia. Until recently, the hypothesis that cancer cells exhibit a mutator phenotype had little experimental support. The mismatch repair (MMR) system, first described in bacteria, became relevant to human malignancies in 1993 with the discovery of the replication error phenotype manifested by microsatellite instability (MIN). Six human genes involved in DNA MMR hMSH2, hMSH3 (DUG), hMLH1, PMS1, PMS2 and GTBP - have been cloned and characterized. Germline mutations in these genes cause a heritable susceptibility to colorectal and related cancers. Microsatellites are repetitive nucleotide sequences dispersed throughout the human genome. The number of repetitive units is constant in normal cells. MIN, i.e. variations in the number of repetitive units in each microsatellite, has been documented in many solid tumors and has provided strong evidence for the existence of a mutator phenotype. Using a panel of microsatellite markers, several investigators have demonstrated the rarity of MIN and the frequent clonal loss ofheterozygosity in both chronic and acute de novo leukemias. This review deals with the DNA MMR system, as well as the concept of microsatellite mutator phenotype, in neoplasia and especially leukemias.

Original languageAmerican English
Pages (from-to)71-81
Number of pages11
JournalReviews in Clinical and Experimental Hematology
StatePublished - 1997
Externally publishedYes


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