Acute erythroid leukaemia transformation in polycythaemia vera with leukemic involvement in liver and ascites

Polycythaemia vera (PV) may rarely evolve into acute erythroid leukaemia (AEL). We herein report a known case of JAK2 p. V617F mutated PV presenting with progressive hepatosplenomegaly, abdominothoracic lymphadenopathy, ascites and various haematological derangements. Rapid diagnostic work-up revealed extensive marrow, hepatic and ascitic fluid infiltration by many CD71+, LMO2+ and p53+ proerythroblasts. Next generation sequencing showed TP53 , ASXL1 and TET2 gene mutations. A chemotherapeutic regimen of ruxolitinib, azacitidine and venetoclax was initiated. A comprehensive review of the English literature emphasises clinical, morphologic, immunophenotypic and genetic characteristics of AEL transformation in PV.