Diagnosis of rare subtypes of acute myeloid leukaemia and related neoplasms

Pathology. 2021 Apr;53(3):312-327. doi: 10.1016/j.pathol.2021.02.001. Epub 2021 Mar 4.


The diagnosis of acute myeloid leukaemia and related neoplasms in adults is challenging as this requires the integration of clinical findings, morphology, immunophenotype, cytogenetics, and molecular genetic findings. Lack of familiarity with rare subtypes of acute leukaemia hinders the diagnosis. In this review, we will describe diagnostic findings of several rare acute myeloid leukaemias and related neoplasms that primarily occur in adults including information on presentation, morphology, immunophenotype, genetics, differential diagnosis, and prognosis. Leukaemias discussed include blastic plasmacytoid dendritic cell neoplasm, acute myeloid leukaemia with t(6;9) (p23;q34.1); DEK-NUP214, acute myeloid leukaemia with inv(3)(q21.3q26.2) or t(3;3)(q21.3;q26.2); GATA2, MECOM, acute myeloid leukaemia with BCR-ABL1, acute leukaemias of ambiguous lineage, acute myeloid leukaemia with mutated RUNX1, pure erythroid leukaemia, acute panmyelosis with myelofibrosis, and acute basophilic leukaemia. Case studies with morphological features of the nine subtypes of acute myeloid leukaemia and related neoplasms have been included, and additional evidence available since publication of the 2016 World Health Organization Classification has been added to each subtype.

Keywords: Acute myeloid leukaemia; acute basophilic leukaemia; acute leukaemia of ambiguous lineage; acute myeloid leukaemia with BCR-ABL1; acute myeloid leukaemia with inv(3) or t(3;3); acute myeloid leukaemia with t(6;9); acute panmyelosis with myelofibrosis; blastic plasmacytoid dendritic cell neoplasm; pure erythroid leukaemia.

Publication types

  • Review

MeSH terms

  • Chromosomal Proteins, Non-Histone / genetics
  • Cytogenetics
  • Fusion Proteins, bcr-abl / genetics
  • GATA2 Transcription Factor / genetics
  • Humans
  • Immunophenotyping
  • Leukemia / diagnosis*
  • Leukemia / genetics
  • Leukemia / pathology
  • Leukemia, Myeloid, Acute / diagnosis*
  • Leukemia, Myeloid, Acute / genetics
  • Leukemia, Myeloid, Acute / pathology
  • MDS1 and EVI1 Complex Locus Protein / genetics
  • Molecular Biology
  • Myeloproliferative Disorders / diagnosis*
  • Myeloproliferative Disorders / genetics
  • Myeloproliferative Disorders / pathology
  • Nuclear Pore Complex Proteins / genetics
  • Oncogene Proteins / genetics
  • Poly-ADP-Ribose Binding Proteins / genetics
  • Prognosis


  • BCR-ABL1 fusion protein, human
  • Chromosomal Proteins, Non-Histone
  • DEK protein, human
  • GATA2 Transcription Factor
  • GATA2 protein, human
  • MDS1 and EVI1 Complex Locus Protein
  • MECOM protein, human
  • NUP214 protein, human
  • Nuclear Pore Complex Proteins
  • Oncogene Proteins
  • Poly-ADP-Ribose Binding Proteins
  • Fusion Proteins, bcr-abl