DNA mismatch repair deficiency in paediatric haematological malignancies: research and application for chemotherapeutic strategies

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This study aimed to elucidate the reality of DNA mismatch repair (MMR) deficiency in the paediatric haematological malignancies, particularly acute lymphocytic leukaemia (ALL) and non-Hodgkin lymphoma, and, consequently, the relationship between the MMR status and the chemosensitivity of tumours against methotrexate (MTX) and 6-mercatutopurine (6-MP) in this category of human malignancies. In a panel of 30 ALL patients, we analysed microsatellite instability (MSI) in the tumour DNA and found a few MSI-positive tumours. However, the detailed examination of the clinical backgrounds of the patients revealed that the observed microsatellite alterations reflected the haematopoietic stem cell transplantation that they underwent, which suggests that MSI analysis is not applicable to some cases of haematological malignancies. Multi-angle analysis is needed in this subject.