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

Authors

Allison Kaye Lombridas Pagarigan, Natcha Sumpansirikul, Ekapun Karoopongse, Sanya Sukpanichnant

Published in

BMJ case reports. Volume 19. Issue 8. Aug 03, 2026. Epub Aug 03, 2026.

Abstract

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.

PMID:
42547260
Bibliographic data and abstract were imported from PubMed on 04 Aug 2026.

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