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Atypical features in a patient with acute promyelocytic leukaemia: a potential diagnostic pitfall.

Research paper by Muhajir M Mohamed, Karen K Dun, Julian J Grabek

Indexed on: 10 Sep '13Published on: 10 Sep '13Published in: BMJ case reports



Abstract

Acute promyelocytic leukaemia (APML) is a malignancy with a high cure rate; however, delay in diagnosis or treatment can result in morbidity and mortality. APML has characteristic clinical, morphological, immunophenotypic and molecular features. In patients with acute leukaemia, a high index of suspicion is required to exclude APML. Very rarely APML patients at diagnosis can demonstrate atypical features. We reported a patient whose bone marrow features resembled acute myeloid leukaemia with predominantly agranular blasts, devoid of Auer rods and expressing CD34 and HLA-DR on flow cytometry. APML was not suspected initially but after cytogenetic and molecular genetic studies demonstrated t(15;17), appropriate therapy with ATRA+ chemotherapy was instituted and the patient showed remarkable and sustained response to treatment. This case highlights the fact that morphology and immunophenotyping are useful but not infallible indicators for these malignancies and, ultimate diagnoses will require detection of the characteristic molecular markers.