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Gewählte Publikation:

Olipitz, W; Hopfinger, G; Aguiar, RC; Gunsilius, E; Girschikofsky, M; Bodner, C; Hiden, K; Linkesch, W; Hoefler, G; Sill, H.
Defective DNA-mismatch repair: a potential mediator of leukemogenic susceptibility in therapy-related myelodysplasia and leukemia.
Genes Chromosomes Cancer. 2002; 34(2):243-248
Web of Science PubMed FullText FullText_MUG


Autor/innen der Med Uni Graz:
Hoefler Gerald
Lind Karin
Linkesch Werner
Olipitz Werner
Sill Heinz

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We investigated the potential role of defective DNA-mismatch repair (MMR) as a mediator of leukemogenic susceptibility in patients with therapy-related myelodysplasia (t-MDS) and leukemia (t-leuk). Thirty-seven individuals with t-MDS/t-leuk were analyzed for microsatellite instability (MSI), the hallmark of defective DNA-MMR. Using standardized international criteria, 5/37 (14%) patients displayed high MSI, whereas 3 other patients had low MSI (8%). To determine the stage at which MSI had developed, we analyzed the primary tumors of 12 patients. Three of 4 patients with high MSI t-MDS/t-leuk also had microsatellite unstable primary tumors. Conversely, MSI was not detected in any primary malignancy of patients with low MSI or microsatellite stable t-MDS/t-leuk (P = 0.0182). In the high MSI group, we further investigated genes targeted by defective DNA-MMR (BAX, TGFBRII, IGFIIR, Caspase-5, APC, PTEN, E2F4, MBD4, MSH6, and MSH3) in both primary tumor and t-MDS/t-leuk. However, no mutation was found in any gene. The significant association of MSI in t-MDS/t-leuk and corresponding primary tumors suggests that defective DNA-MMR confers leukemogenic susceptibility to this cohort of patients.
Find related publications in this database (using NLM MeSH Indexing)
Adult -
Aged -
Base Pair Mismatch - genetics
Child -
Child, Preschool -
DNA Repair - genetics
Female -
Genetic Predisposition to Disease - genetics
Humans -
Infant -
Leukemia - chemically induced Leukemia - genetics
Male -
Middle Aged -
Myelodysplastic Syndromes - chemically induced Myelodysplastic Syndromes - genetics
Trinucleotide Repeat Expansion - genetics

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