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Platelet transfusion can mimic somatic mtDNA mutations

Leukemia volume 20, pages 362–363 (2006)Cite this article

Chemotherapy-induced mitochondrial DNA (mtDNA) alterations are well known in patients treated for viral infections with nucleoside analogue reverse transcriptase inhibitors.1 It is also hypothesized that certain chemotherapeutic agents for treatment of cancer may cause mtDNA mutations in vitro.2, 3 A study by Wardell et al. reported mtDNA mutations after chemotherapy and irradiation several years after the end of therapy. Although an increase in mtDNA mutations was observed in this study, the level of heteroplasmy (a mixture of mutated and normal mtDNA molecules in one cell) was usually below 2%.4 The mitochondrion contains multiple copies of DNA molecules per cell; therefore, it is unlikely that random mutations induced by cytotoxic agents would affect a high number of genome copies. Accordingly, therapy-induced mutations were present at a low level.4

Recently, Carew et al.5 reported a high mtDNA mutation rate in leukocytes of patients with chronic lymphatic leukemia (CLL) after chemotherapy. In this study, the mtDNA sequences of primary CLL cells were compared to the Cambridge reference sequence. As expected, all patients displayed a variety of homoplasmic differences to the reference sequence of the mtDNA. No difference in the frequency of homoplasmic mutations was observed in the untreated and treated group. However, CLL cells with prior chemotherapy had a significant higher frequency of heteroplasmic mutations than those of untreated individuals.5 In all cases, a high level of heteroplasmy between 30 and 70% was detected.

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Acknowledgements

This work was supported by the ‘Children's Cancer Foundation Salzburg’ and the ‘Vereinigung zur Foerderung der paediatrischen Forschung und Fortbildung Salzburg’.

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  1. Department of Paediatrics, Paracelsus Private Medical University Salzburg, Salzburg, Austria

    D Meierhofer, S Ebner, J A Mayr, N D Jones, B Kofler & W Sperl

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  1. D Meierhofer
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  2. S Ebner
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  3. J A Mayr
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  5. B Kofler
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  6. W Sperl
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Meierhofer, D., Ebner, S., Mayr, J. et al. Platelet transfusion can mimic somatic mtDNA mutations. Leukemia 20, 362–363 (2006). https://doi.org/10.1038/sj.leu.2404070

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