Introduction Acute myeloid leukemia (AML) is a heterogeneous clonal disorder of haemopoietic 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) are essential for the diagnosis, 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 NPM1 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.

Introduction: Primary plasma cell leukaemia is a rare and highly aggressive disease that is commonly diagnosed a decade earlier than multiple myeloma, at a median age of 55 years. However, it has also been described in younger patients, as documented in this case report. It often presents with hepatosplenomegaly and lymphadenopathy, whilst the presence of bony lesions are less-commonly seen when compared to multiple myeloma.Case presentation: This report describes the case of a young woman who presented with symptoms of anaemia and a history of menorrhagia. On further careful examination, she was found to have additional signs and symptoms and was later diagnosed with primary plasma cell leukaemia.Management and outcome: On admission, the patient received supportive care measures, including blood products. At diagnosis, a specific chemotherapy regimen was commenced; however, this failed to induce remission. The decision to continue with supportive care only was made and the patient died seven months later.Discussion: This case study is presented because of its rarity, the young age of the patient at presentation and the unusual clinical and laboratory findings. Persistent anaemia unresponsive to standard treatment should raise the index of suspicion and further investigations directed to exclude malignancies should be considered. (Full article to follow)