Lower frequency of NPM1 and FLT3-ITD mutations in a South African adult de novo AML cohort
Corresponding Author
R. C. Marshall
National Health Laboratory Services, Johannesburg, South Africa
Department of Molecular Medicine and Haematology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa
Correspondence:
Dr Robyn Marshall, Department of Molecular Medicine and Haematology, Faculty of Health Sciences, University of the Witwatersrand, 7 York Rd, Parktown, 2193 Johannesburg, South Africa.
Tel.: +27 11 489 8805;
Fax: +27 11 484 5812;
E-mail: [email protected]
Search for more papers by this authorA. Tlagadi
National Health Laboratory Services, Johannesburg, South Africa
Department of Molecular Medicine and Haematology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa
Search for more papers by this authorM. Bronze
National Health Laboratory Services, Johannesburg, South Africa
Department of Molecular Medicine and Haematology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa
Search for more papers by this authorV. Kana
National Health Laboratory Services, Johannesburg, South Africa
Department of Molecular Medicine and Haematology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa
Search for more papers by this authorS. Naidoo
National Health Laboratory Services, Johannesburg, South Africa
Department of Haematology, University of Kwa-Zulu Natal, Durban, South Africa
Search for more papers by this authorT. M. Wiggill
National Health Laboratory Services, Johannesburg, South Africa
Department of Molecular Medicine and Haematology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa
Search for more papers by this authorS. C. Carmona
National Health Laboratory Services, Johannesburg, South Africa
Department of Molecular Medicine and Haematology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa
Search for more papers by this authorCorresponding Author
R. C. Marshall
National Health Laboratory Services, Johannesburg, South Africa
Department of Molecular Medicine and Haematology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa
Correspondence:
Dr Robyn Marshall, Department of Molecular Medicine and Haematology, Faculty of Health Sciences, University of the Witwatersrand, 7 York Rd, Parktown, 2193 Johannesburg, South Africa.
Tel.: +27 11 489 8805;
Fax: +27 11 484 5812;
E-mail: [email protected]
Search for more papers by this authorA. Tlagadi
National Health Laboratory Services, Johannesburg, South Africa
Department of Molecular Medicine and Haematology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa
Search for more papers by this authorM. Bronze
National Health Laboratory Services, Johannesburg, South Africa
Department of Molecular Medicine and Haematology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa
Search for more papers by this authorV. Kana
National Health Laboratory Services, Johannesburg, South Africa
Department of Molecular Medicine and Haematology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa
Search for more papers by this authorS. Naidoo
National Health Laboratory Services, Johannesburg, South Africa
Department of Haematology, University of Kwa-Zulu Natal, Durban, South Africa
Search for more papers by this authorT. M. Wiggill
National Health Laboratory Services, Johannesburg, South Africa
Department of Molecular Medicine and Haematology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa
Search for more papers by this authorS. C. Carmona
National Health Laboratory Services, Johannesburg, South Africa
Department of Molecular Medicine and Haematology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa
Search for more papers by this authorSummary
Introduction
Acute myeloid leukemia (AML) is a heterogeneous clonal disorder of hemopoietic progenitor cells diagnosed in individuals of any age, but with a median age of 67 years at presentation in adults. Assessment of the mutation status of nucleophosmin protein-1 (NPM1) and FMS-like tyrosine kinase 3 internal tandem duplication (FLT3-ITD) is essential for the prognosis, and treatment of AML.
Methods
A total of 160 de novo AML cases, both cytogenetically normal and abnormal, were analyzed for the presence of NPM1 and FLT3-ITD mutations, and the results assessed in conjunction with epidemiological, clinical, and laboratory findings.
Results
Nucleophosmin protein-1 mutations were found in 7.5%, while FLT3-ITD was present in 12% of these cases. Both of these were lower than expected. The median age at diagnosis of AML was 41 years, and for the FLT3-ITD only cases, median age was 33 years; these ages were younger than expected.
Conclusion
The lower reported frequencies and younger median age at diagnosis of AML and these specific mutations may be contributed to by a number of factors including effects of race on age of presentation, inclusion of patients diagnosed with de novo AML only, and a generally younger median age of the South African population.
References
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