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Mitochondrial mutations in acute leukaemia

Leukemia volume 18, pages 1313–1316 (2004)Cite this article

TO THE EDITOR

Mutations in the mitochondrial genome have been reported in various forms of carcinoma. For acute leukaemia, however, there is only one definitive report1 of their presence in one patient with acute lymphoblastic leukaemia (ALL), together with another report2 on alteration of restriction fragment length polymorphisms in ALL cells, which could be interpreted as being due to acquired mutations. We therefore sought mitochondrial mutations in 22 patients with acute myeloid leukaemia (AML) (11 males, 11 females, ages 16–69) and 26 patients with ALL (14 males, 12 females, 23 children, three adults). In all, 15 of the ALL patients were specifically selected because they had relapsed. All patients were studied by sequencing the mitochondrial D loop from nucleotides 16111–190 and in 37 patients; the same region was also studied by denaturing gradient gel electrophoresis (DGGE). Mutations were found at diagnosis by sequencing in eight of the 22 patients (36%) with AML and 15 of the 26 patients (58%) with ALL. The difference in frequency between AML and ALL was not significant (P=0.09, Fisher's exact test). Aberrant bands resulting from mutation were detected by DGGE with a sensitivity of 93% and a specificity of 98%.

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Authors and Affiliations

  1. Department of Haematology and Genetic Pathology, Flinders University and Flinders Medical Centre, Bedford Park, South Australia, Australia

    S A Grist, X-J Lu & A A Morley

  2. HuaXi Hospital, Sichuan University, Cheng Du, Sichuan, China

    X-J Lu

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  1. S A Grist
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Correspondence to A A Morley.

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Grist, S., Lu, XJ. & Morley, A. Mitochondrial mutations in acute leukaemia. Leukemia 18, 1313–1316 (2004). https://doi.org/10.1038/sj.leu.2403380

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