title: Microsatellite instability in hematological malignancies.
abstract: The replication error (RER+) phenotype, characterized by microsatellite instability (MSI) has been recently related to mutations of genes involved in DNA mismatch repair pathway. These genetic alterations were first described in hereditary non polyposis colorectal cancer (HNPCC). We examined 44 patients with hematological malignancies (27 AML, 9 MDS, 2 CML-BP and 6 T-ALL) for evidence of MSI. Twenty seven percent of our patients showed differences for only one marker. In four cases (9.1%) MSI was observed in multiple markers and these cases were described as RER+ phenotype. Presented data suggest that this phenomenon may play a role in at least a subset of patients with hematological malignancies.
authors.affiliation: Institute of Hematology and Blood Transfusion, Prague, Czech Republic. lenka.krskova@lfmotol.cuni.cz
authors.forename: Lenka
authors.initials: L
authors.lastname: Krsková-Honzátková
authors.forename: Jaroslav
authors.initials: J
authors.lastname: Cermák
authors.forename: Jana
authors.initials: J
authors.lastname: Sajdová
authors.forename: Jan
authors.initials: J
authors.lastname: Starý
authors.forename: Petr
authors.initials: P
authors.lastname: Sedlácek
authors.forename: Zuzana
authors.initials: Z
authors.lastname: Sieglová
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis / Q000379:methods; D004260:DNA Repair / Q000235:genetics; D005260:Female; D005819:Genetic Markers; D019337:Hematologic Neoplasms / Q000235:genetics*; D006801:Humans; D007223:Infant; D019656:Loss of Heterozygosity; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D012008:Recurrence; D019680:Trinucleotide Repeat Expansion
chemical_list: D005819:Genetic Markers