28Jun 2022
Rare germline alterations of myeloperoxidase predispose to myeloid neoplasms

Rare germline alterations of myeloperoxidase predispose to myeloid neoplasms

Myeloperoxidase (MPO) gene alterations with variable clinical penetrance have been found in hereditary MPO deficiency, but their leukemia association in patients and carriers has not been established. Germline MPO alterations were found to be significantly enriched in myeloid neoplasms. The study demonstrated that H2O2-induced DNA damage and activation of error-prone DNA repair may result in secondary genetic damage potentially predisposing to leukemia leukemic evolution. In conclusion, present study for the first time demonstrates that germline MPO variants may constitute risk alleles for MN evolution.

  • #oncology

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