Welcome to the NORD Physician Guide to Acute Myeloid Leukemia (AML). The NORD Online Physician Guides are written for physicians by physicians with expertise on specific rare disorders. This guide was written by Amy E. DeZern, MD, MHS, Assistant Professor of Oncology and Medicine, Division of Hematologic Malignancies, Johns Hopkins Sidney Kimmel Cancer Center (see acknowledgements for additional information).
NORD is a nonprofit organization representing all patients and families affected by rare diseases. The information NORD provides to medical professionals is intended to facilitate timely diagnosis and treatment for patients.
AML is a group of heterogeneous hematopoietic stem cell disorders which are characterized by incomplete maturation of blood cells and reduced production of other normal hematopoietic cells.
Common symptoms of AML reported during patient history result from pancytopenia (low blood counts) and include fatigue, dyspnea, infection, and bleeding.
There are several types of AML recognized in the 2016 World Health Organization classification. Specific diagnosis is based on combination of history, cytology of nucleated cells in blood and bone marrow, immunophenotyping, cytochemistry, and cytogenetic markers.
For some patients, AML is curable with current therapies. Multiple drugs and drug combinations are being studied as potential therapies for AML in clinical trials.
What is AML?
Acute myeloid leukemia (AML) is a group of heterogeneous hematopoietic stem cell disorders which are characterized by incomplete maturation of blood cells and reduced production of other normal hematopoietic cells.
AML is most common in older people (more than half of cases are in patients ≥ 65 years old) and has a slightly higher incidence in males and in populations of European descent.
There are several types of AML recognized in the 2016 World Health Organization classification:
Potential risk factors for AML include exposure to ionizing radiation, chemicals known to cause DNA damage (particularly alkylating agents and drugs targeting topoisomerase II), and multiple predisposing conditions including myelodysplastic processes or other chronic bone marrow stem cell disorders.
Acute promyelocytic leukemia (APL) is not discussed here.
Common symptoms of AML reported during patient history result from pancytopenia (low blood counts) and include fatigue, dyspnea, infection, and bleeding.
Findings during physical exam may be subtle (depending on subtype or time into presentation) and typically include pallor, petechiae due to thrombocytopenia, ecchymoses, fever, lymphadenopathy, sternal tenderness, organomegaly, gingival hyperplasia in monocytic variant, leukemia cutis, leukostasis features such as confusion, visual changes or dyspnea; especially if white count > 100,000 (but can happen at any white count).
World Health Organization (WHO) diagnostic criteria of AML based on any of:
Specific diagnosis is based on combination of history, cytology of nucleated cells in blood and bone marrow, immunophenotyping, cytochemistry, and cytogenetic markers.
Differential diagnosis may include (in advance of knowing the above details):
(Peripheral blood testing is imperative and consider bone marrow aspirate and trephine biopsy, unless high peripheral blast count, acute promyelocytic leukemia (APL) suspected, or only palliative treatment expected.)
Types of AML
Induction Chemotherapy for AML (other than acute promyelocytic leukemia [APL])
Other Supportive Care:
Postinduction Therapy
Postremission Therapy
Therapy for Relapsed Disease
In 2017, the following drugs were approved to treat AML:
Midostaurin (Rydapt) was approved for the treatment of adult patients with newly diagnosed FLT3 gene positive AML in combination with standard cytarabine and daunorubicin induction and cytarabine consolidation. Rydapt is manufactured by Novartis Pharmaceuticals Corp.
Idhifa (enasidenib) was approved to treat adult patients with relapsed or refractory AML who have a IDH2 gene mutation. The drug was approved for use with the RealTime IDH2 Assay, which is used to detect specific mutations in the IDH2 gene in patients with AML. Idhifa is manufactured by the Celgene Corporation. The RealTime IDH2 Assay is manufactured by Abbott Laboratories.
Vyxeos was approved to treat adults with two types of AML: newly diagnosed therapy-related AML (t-AML) and AML with myelodysplasia-related changes (AML-MRC). Vyxeos is a fixed-combination of chemotherapy drugs daunorubicin and cytarabine that is manufactured by Jazz Pharmaceuticals.
Mylotarg (gemtuzumab ozogamicin) was approved to treat adults with newly diagnosed AML whose tumors express the CD33 antigen (CD33-positive AML) and to treat patients aged 2 years and older with CD33-positive AML who have experienced a relapse or who have not responded to initial treatment. Mylotarg is manufactured by Pfizer Inc.
As of January 2017, there are multiple drugs and drug combinations being studied as potential therapies for AML. Some of these are targeted agents for select AML populations while others are for patients who have not responded to other treatments or those just beginning their first treatment for AML. The eligibility criteria are select and best assessed by the treating physician.
Information on current clinical trials is posted at https://www.clinicaltrials.gov/. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials sponsored by private sources, contact: www.centerwatch.com
For more information about clinical trials conducted in Europe, contact: https://www.clinicaltrialsregister.eu/
NORD does not endorse or recommend any particular studies.
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![]() | NORD is grateful to the following medical expert for writing this Physician Guide: Amy E. DeZern, MD, MHS |
This NORD Physician Guide was made possible by an educational grant from Daiichi Sankyo.
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