Acute myeloid leukaemia (AML) is a life-threatening haematological malignancy that predominantly occurs in older adults.
Many subtypes exist, of which acute promyelocytic leukaemia merits specific management.
Characteristically, abnormal blasts are present in the peripheral blood and normal haematopoiesis is reduced. Definitive diagnosis requires bone marrow biopsy. Presence of ≥20% blast cells in the peripheral blood and/or bone marrow confirms the diagnosis.
Cytogenetic, genetic, and epigenetic abnormalities are prognostically important and affect patient management.
Most patients are treated with chemotherapy induction, consolidation, and maintenance regimens. Haematopoietic stem cell transplantation may also be used in select patients.
It is important to rapidly identify acute promyelocytic leukaemia, as associated coagulopathy may be life threatening.
Although most patients achieve complete remission, a high incidence of relapse leads to poor overall survival.
Acute myeloid leukaemia (AML) is a life-threatening haematological malignancy caused by clonal expansion of myeloid blasts in the bone marrow, peripheral blood, or extramedullary tissues. The presence of ≥20% blast cells in the bone marrow or peripheral blood confirms the diagnosis. Specific clonal cytogenetic abnormalities, such as t(8;21)(q22;q22), inv(16)(p13;q22), t(16;16)(p13;q22), and t(15;17)(q22;q12), also define AML irrespective of the blast count. AML may arise de novo or secondary to a pre-existing haematological disorder, such as myelodysplastic syndrome.
The acute promyelocytic leukaemia (APML) subtype of AML is characterised by a distinctive cytomorphology (hypergranular promyelocytes with bilobed nuclei and bundles of Auer rods), a tendency for coagulopathy (due to thrombocytopenia and fibrinolysis), and a specific t(15;17) translocation resulting in a novel PML/RAR-alpha fusion gene.
History and exam
Key diagnostic factors
- ecchymoses or petechiae
Other diagnostic factors
- infections or fever
- mucosal bleeding
- skin or testicular mass
- skin infiltration
- gingival enlargement
- bone pain
- abdominal pain
- age over 65 years
- previous treatment with chemotherapy
- previous haematological disorders
- inherited genetic conditions
- constitutional karyotype abnormalities
- radiation exposure
- benzene exposure
- environmental exposures
- male sex
1st investigations to order
- FBC with differential
- peripheral blood smear
- coagulation panel
- serum electrolytes and uric acid
- renal function
- serum lactic dehydrogenase
Investigations to consider
- bone marrow aspirate and trephine biopsy
- immunophenotyping (flow cytometry)
- cytogenetic and molecular investigations
- lumbar puncture
- HLA antigen typing
- chest x-ray
- multi-gated acquisition scan
newly diagnosed AML: suitable for standard chemotherapy
newly diagnosed AML: not suitable for standard chemotherapy
newly diagnosed non-high-risk acute promyelocytic leukaemia (APML)
newly diagnosed high-risk acute promyelocytic leukaemia (APML)
complete remission: AML
complete remission: non-high-risk acute promyelocytic leukaemia (APML)
complete remission: high-risk acute promyelocytic leukaemia (APML)
relapsed or refractory AML
relapsed or refractory acute promyelocytic leukaemia (APML)
Kavita Raj, MD, MRCP, FRCPath, PhD
Guy's and St Thomas' NHS Trust
KR declares that she has no competing interests.
Priyanka Mehta, MD, FRCP, FRCPath
University Hospital Bristol
PM declares that she has no competing interests.
Rebecca Connor, MD
Section of Hematology and Oncology
Department of Internal Medicine
Wake Forest University Baptist Medical Center
RC declares that she has no competing interests.
Roger M. Lyons, MD, FACP
Clinical Professor of Medicine
University of Texas Health Science Center
Cancer Care Network of South Texas
RML declares that he has no competing interests.
Shankaranarayana Paneesha, MD, MRCP, FRCPath
Department of Haematology and Stem Cell Transplantation
SP declares that he has no competing interests.
David Marks, MD, MRCP, MRCPath
Professor of Haematology & Stem Cell Transplantation
Department of Molecular and Cellular Medicine
University of Bristol
DM declares that he has no competing interests.
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