Rare germline alterations of myeloperoxidase predispose to myeloid neoplasms.

ABSTRACT: 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: 28 pathogenic/likely pathogenic variants were identified in 100 patients. The most common alterations were c.2031-2 A > C, R569W, M519fs* and Y173C accounting for about half of the cases. While functional experiments showed that the marrow stem cell pool of Mpo^-/- mice was not increased, using competitive repopulation demonstrated that Mpo^-/- grafts gained growth advantage over MPO wild type cells. This finding also correlated with increased clonogenic potential after serial replating

SUBMITTER: Kongkiatkamon S 

PROVIDER: S-EPMC12915237 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature