Background: Recognition of molecular abnormalities in acute myeloid leukaemia (AML) has improved our understanding of its biology. NPM1 and FLT3-ITD mutations are recurrent in AML and clinically significant. NPM1 mutations are associated with a favourable prognosis, while FLT3-ITD mutations are an independent poor prognostic factor in AML.Objective: This study described the prevalence and molecular characteristics of the NPM1 and FLT3-ITD mutations in a newly diagnosed AML patient cohort in central South Africa.Methods: The study included 40 de novo AML patients. An NPM1 and FLT3-ITD multiplex polymerase chain reaction assay was optimised to screen patients for the respective mutations and were confirmed using Sanger sequencing. The prevalence of the NPM1 and FLT3-ITD mutations were determined, and mutation-specific characteristics were described in relation to patients’ demographic information and AML classifications.Results: The patients’ median age was 38.5 years, with 77.5% (n = 31) of patients being self-proclaimed Black Africans. AML with recurrent genetic abnormalities was most prevalent (57.5%; n = 23), of which acute promyelocytic leukaemia (APL) was most common (40.0%; n = 16). None of the patients had the NPM1 mutation. FLT3-ITD was present in 37.5% (6/16) of APL patients and in one (20.0%) of five AML patients with a t(8;21) translocation. Most patients had an FLT3-ITD allele ratio of ≥ 50% and ITD lengths of 39 bp.Conclusion: FLT3-ITD mutations were mainly found in APL cases at a similar prevalence as reported in the literature. High FLT3-ITD allele ratios and long ITD lengths predominated. No NPM1 mutations were detected.
We read the recent paper by Mogongoa on efficacy of oral iron therapy in geophagic women with interest. The author must be congratulated on a detailed study. In summary, the study divided 84 geophagic women with iron deficiency anaemia into two groups, one which stopped geophagia, and one which continued with geophagia, while receiving oral iron supplements. After ten weeks of gradually escalating doses of oral iron the participants’ average iron status and haemoglobin had not improved significantly. Response to iron therapy was defined as a rise of the haemoglobin concentration by 2 g/dL within three weeks. In the group that had stopped geophagia 9.3% (4/43) participants had an increase of 2 g/dL in haemoglobin over the ten weeks, while in the group that continued with geophagia only one participant (2.9% = 1/35) had a similar improvement. The author concluded that “oral iron therapy was not effective in geophagia cases of iron deficiency anaemia” in the abstract and “in this study oral iron therapy was not effective for the correction of iron deficiency anaemia in geophagic Botshabelo females” in the conclusions. We wish to point out that this conclusion might not be entirely correct.
This study aimed to describe the demographic variables, clinical characteristics and laboratory features associated with the short-term mortality of patients with APL.
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