How unique is pure erythroid leukaemia? A retrospective analysis of seven cases and review of the literature.

Aims: Pure erythroid leukaemia (PEL) is a rare subtype of acute myeloid leukaemia (AML) and its clinicopathological features are not well-defined. The aim of this study was to describe the immunophenotypic, cytogenetic and clinical features of PEL and to compare these with cases of AML with ≥ 50% erythroblasts.

Methods: Cases of PEL according to WHO morphological criteria diagnosed at three institutions from 1997 to 2013 were included. A comparison cohort comprised of AML with ≥ 50% erythroblasts. The clinical, histopathology, immunophenotypic and cytogenetic features of cases were analysed. We also reviewed the existing literature on PEL, and combined our cohort with previously reported cases of PEL in a pooled analysis.

Results: There were seven cases of PEL diagnosed at our institutions. There was a high incidence of either prior chemoradiotherapy exposure or evolution from pre-existing myelodysplastic syndrome (MDS) (71%). The leukaemic blasts frequently expressed glycophorin C (100%), CD117 (83%) and were myeloperoxidase negative (83%). Complex karyotypes were present in 83% of cases. Median overall survival was 2.9 months. Compared with AML with ≥ 50% erythroblasts, cases of PEL demonstrated a higher incidence of adverse-risk cytogenetics (p=0.01) and prior exposure to chemoradiotherapy (p=0.01).

Conclusions: PEL appears to be a unique entity that is often secondary or therapy related, commonly features a complex karyotype and has a poor prognosis. It is morphologically and immunophenotypically distinct from other cases of AML with erythroid hyperplasia.