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.
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