title: Frameshift mutations in caspase-5 and other target genes in leukemia and lymphoma cell lines having microsatellite instability.
abstract: Microsatellite instability (MSI) was examined in 49 lymphoid leukemia/lymphoma cell lines. Frameshift mutations within eight MSI target genes were analyzed in the 12 cell lines and nine childhood acute lymphoblastic leukemia (ALL) samples with MSI. Six cell lines (50%) showed mutations within the coding repeats of the BLM, caspase-5, TCF-4, and PTEN genes. No mutations were identified in the nine childhood ALL samples with MSI. This is the first report that describes mutations of these genes in hematological malignancies. Mutations, presumably caused by an abnormality of the DNA repair genes, may be selected for during the establishment of cell lines.
authors.affiliation: Department of Internal Medicine, Kochi Medical School, Okohcho, Nankoku 783-8505, Japan. takeuti@kochi-ms.ac.jp
authors.forename: Seisho
authors.initials: S
authors.lastname: Takeuchi
authors.forename: Naoko
authors.initials: N
authors.lastname: Takeuchi
authors.forename: Anthony C
authors.initials: AC
authors.lastname: Fermin
authors.forename: Hirokuni
authors.initials: H
authors.lastname: Taguchi
authors.forename: H Phillip
authors.initials: HP
authors.lastname: Koeffler
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics; D020169:Caspases / Q000235:genetics*; D004265:DNA Helicases / Q000235:genetics; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm; D004268:DNA-Binding Proteins / Q000235:genetics; D016368:Frameshift Mutation; D006801:Humans; D007938:Leukemia / Q000209:etiology / Q000235:genetics* / Q000473:pathology*; D008223:Lymphoma / Q000209:etiology / Q000235:genetics* / Q000473:pathology*; D018895:Microsatellite Repeats / Q000235:genetics*; D051059:PTEN Phosphohydrolase; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics / Q000473:pathology; D053484:RecQ Helicases; D051820:TCF Transcription Factors; D058118:Transcription Factor 7-Like 2 Protein; D014157:Transcription Factors / Q000235:genetics; D014407:Tumor Cells, Cultured; D025521:Tumor Suppressor Proteins / Q000235:genetics
chemical_list: D004273:DNA, Neoplasm; D004268:DNA-Binding Proteins; D051820:TCF Transcription Factors; C544894:TCF7L2 protein, human; D058118:Transcription Factor 7-Like 2 Protein; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins; D010744:Phosphoric Monoester Hydrolases; D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human; C099217:CASP5 protein, human; D020169:Caspases; D000251:Adenosine Triphosphatases; C097151:Bloom syndrome protein; D004265:DNA Helicases; D053484:RecQ Helicases