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Lower frequency of NPM 1 and FLT 3‐ ITD mutations in a South African adult de novo AML cohort
Author(s) -
Marshall R. C.,
Tlagadi A.,
Bronze M.,
Kana V.,
Naidoo S.,
Wiggill T. M.,
Carmona S. C.
Publication year - 2014
Publication title -
international journal of laboratory hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.705
H-Index - 55
eISSN - 1751-553X
pISSN - 1751-5521
DOI - 10.1111/ijlh.12204
Subject(s) - mutation , genetics , biology , gene
Summary 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 ( NPM 1) and FMS ‐like tyrosine kinase 3 internal tandem duplication ( FLT 3‐ 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 NPM 1 and FLT 3‐ 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 FLT 3‐ 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 FLT 3‐ 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.