ArticleAfrican journal of laboratory medicine2026
Mutational landscape of classical myeloproliferative neoplasms in the Western Cape Province, South Africa.
Article in African journal of laboratory medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: The classical myeloproliferative neoplasms (MPNs) are driven by somatic variants in Objective: The aim of this study was to describe the genetic variants seen in MPNs at a South African tertiary hospital. Methods: A retrospective study was conducted at Tygerberg Hospital, Western Cape Province, South Africa. Patients investigated for a classical MPN driver variant (polycythaemia vera [PV], primary myelofibrosis [PMF] and essential thrombocythaemia [ET]) from 2009 to 2020 were included in the study. The associated MPN diagnosis was sought from full blood count and bone marrow reports. Results: There were 128 patients diagnosed with an MPN over the 12-year study period. Polycythaemia vera was the most prevalent (38%), followed by PMF (33%), essential thrombocythaemia (20%), and MPN unclassifiable (9%). The most frequent variant was Conclusion: These data suggest that there are differences with regard to MPN epidemiology and variant frequency in South Africa, and further clinical studies are required to fully characterise MPNs in the South African context. What this study adds: This retrospective study expanded the profiling of MPNs and driver variants of MPNs in a South African population. Primary myelofibrosis made up a higher percentage of MPN cases than reported in international studies. In addition, in PMF and essential thrombocythaemia,
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