Acute myeloid leukemia differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Hannan Javed, M.D.[2], Zahir Ali Shaikh, MD[3], Raviteja Guddeti, M.B.B.S. [4], Carlos A Lopez, M.D. [5], Shyam Patel [6]; Grammar Reviewer: Natalie Harpenau, B.S.[7]


The differential diagnosis of acute myeloid leukemia includes a variety of other hematologic malignancies, specifically acute promyelocytic leukemia (APL), acute lymphoblastic leukemia (ALL), chronic myeloid leukemia (CML), and chronic lymphocytic leukemia (CLL). Each of these conditions has distinct causes and therapies. There is some overlap between the causes and laboratory abnormalities amongst these diseases.

Differentiating Myeloproliferative Disorders


N/A: Not available, NL: Normal, FISH: Fluorescence in situ hybridization, PCR: Polymerase chain reaction, LDH: Lactate dehydrogenase, PUD: Peptic ulcer disease, EPO: Erythropoietin, LFTs: Liver function tests, RFTs: Renal function tests, LAP: Leukocyte alkaline phosphatase, LAD: Leukocyte alkaline dehydrgenase, WBCs: White blood cells.

Myeloproliferative neoplasms (MPN) Clinical manifestations Diagnosis Other features
Symptoms Physical examination CBC & Peripheral smear Bone marrow biopsy Other investigations
WBCs Hb Plat-
Leuko-cytes Blasts Left
Chronic myeloid leukemia
(CML), BCR-ABL1+[1][2]
<2% + N/A NL
Chronic neutrophilic leukemia (CNL)[3][4][5] Minimal + NL NL NL
Polycythemia vera
  • Constitutional
NL or ↑ None - ↑ or ↓ NL or ↑ NL ↑↑ NL
  • Hypercellularity for age with tri-lineage growth
Primary myelofibrosis (PMF)[10][11][12][13] Erythroblasts - Absent NL NL
  • Variable with fibrosis or hypercellularity
Essential thrombocythemia (ET)[14][15][16]

NL or ↑



↓ or absent



  • N/A


  • Normal/Hypercellular
Chronic eosinophilic leukemia,
not otherwise specified
Present + ↑↑
Variable ± ↑ or ↓ ↑ or ↓ ↑ or ↓
  • N/A
  • Constitutional
None - NL NL ↓ or ↑
Myeloid/lymphoid neoplasms
with eosinophilia and rearrangement
or with PCM1-JAK2[25][26][27][28]
  • None
  • FISH shows t(8;13) and t(8;22)
B-lymphoblastic leukemia/lymphoma[29][30] NL or ↑ >25% N/A ↑ or ↓ ↑ or ↓ ↑ or ↓
Myelodysplastic syndromes
Variable -
  • Leukemia transformation
  • Acquired pseudo-Pelger-Huët anomaly
Acute myeloid leukemia (AML)
and related neoplasms[33][34]
NL or ↑ N/A ↑ or ↓ ↑ or ↓ ↑ or ↓

with dysplasia

Blastic plasmacytoid
dendritic cell neoplasm
Chronic myelomonocytic leukemia (CMML)[39]
< 20% NL ↑↑
  • Overlapping of both, MDS and MPN
  • Absolute monocytosis > 1 × 109/L (defining feature)
  • MD-CMML:WBC ≤ 13 × 109/L (FAB)
  •  MP-CMML:WBC > 13 × 109/L (FAB)
Atypical chronic myeloid leukemia (aCML), BCR-ABL1-[42][43] <20% + <2% of WBCs N/A N/A
  • N/A
Juvenile myelomonocytic leukemia (JMML)[44][45] N/A N/A N/A
MDS/MPN with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T)[46][47][48]
  • Variable
NL or ↑ NL - NL N/A N/A
T-lymphoblastic leukemia/
T-lymphoblastic leukemia/
>25% blasts (Leukemia)

<25% blasts (Lymphoma)

± ↑ or ↓ ↑ or ↓ ↑ or ↓
  • LDH
  • Positive for TdT
  • Hypercelluarity with increased T cells precursors
Provisional entity: Natural killer (NK) cell lymphoblastic leukemia/lymph[52] ± ↑ or ↓ ↑ or ↓ ↑ or ↓
  • N/A
Provisional entity: Early T-cell precursor lymphoblastic leukemia[53][54] ± ↑ or ↓ ↑ or ↓ ↑ or ↓
  • Hypercelluarity with increased T cells precursors


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