id	author	title	date	pages	extension	mime	words	sentence	flesch	summary	cache	txt
ajlm-1363	Kloppers, Jean F.; de Kock, André; Cronjé, Johané; van Marle, Anne-Cecilia	Molecular characterisation of NPM1 and FLT3-ITD mutations in a central South African adult de novo acute myeloid leukaemia cohort	2021		.htm	text/html	4769	234	48	Introduction Over the past decade, the field of acute myeloid leukaemia (AML) diagnostics has shifted from a primarily clinicopathological assessment to an integrated approach, including morphology, immunophenotyping, cytogenetics, and molecular genetics.1,2 In an era of precision medicine, the use of molecular genetic data, in particular, has fundamentally shaped the diagnostic approach to patients with AML.3 Genetic profiling has led to more accurate diagnostic classification and improved risk stratification and identification of potential therapeutic targets.1 Acute myeloid leukaemia is a genetically heterogeneous disease.2 Recurrent structural chromosomal aberrations detected by conventional cytogenetics were previously considered the most relevant prognostic variable in addition to the patient’s age and performance status.2,3 Three main cytogenetic risk groups (low, intermediate, and high) were defined, with approximately 50% of patients having a normal karyotype and falling into the intermediate cytogenetic risk group.3,4 The recognition of additional molecular abnormalities, especially in cytogenetically normal AML (CN-AML), has helped to improve our understanding of the disease biology and better predict outcomes.3,4 Mutational analysis performed on diagnostic samples of AML patients enrolled in the Eastern Cooperative Oncology Group E1900 trial demonstrated somatic mutations in as many as 97.3% of these patients.5 This finding was similar to a previous South African study, where adult AML patients presented with the disease at a median age of 41 years.15 Most patients in this study were self-proclaimed Black Africans, and there was no predominant disease presentation based on sex.	cache/ajlm-1363.htm	txt/ajlm-1363.txt