Information from the 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.
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Related topics: Myeloproliferative Neoplasms: Diagnosis and Treatment · Acute Myeloid Leukemia Research · Eosinophilic Disorders and Syndromes
Thai researcher and institutional participation
Allison Kaye Lombridas Pagarigan · Natcha Sumpansirikul · Ekapun Karoopongse · Sanya Sukpanichnant · Siriraj Hospital · Mahidol University
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