Rare case of fatal accelerated/blast-phase myeloproliferative neoplasm arising from essential thrombocythemia
Year: 2026
Type: article
Study design: Case Report
Abstract: Essential thrombocythemia (ET) is a chronic myeloproliferative neoplasm (MPN) characterized by clonal thrombocytosis. Although typically indolent, rare cases progress to accelerated/blast-phase disease, often with poor outcomes. We report a fatal case of ET that transformed into an aggressive MPN, diagnosed postmortem.A 68-year-old male with a 30-year history of JAK2 V617F-positive ET presented with altered mental status, severe cytopenias, lytic bone lesions, and periportal lymphadenopathy. Initial bone marrow biopsies were inconclusive due to extensive necrosis. Despite palliative management, the patient rapidly developed tumor lysis syndrome (TLS), multiorgan failure, and ultimately suffered fatal cardiac arrest. A limited autopsy revealed extramedullary hematopoiesis with atypical megakaryocytes and 10–20% CD34-positive blasts in lymph nodes, confirming transformation to blast-phase MPN.This case highlights the diagnostic challenges of aggressive MPN transformation, particularly in the context of necrotic biopsies and borderline blast percentages. The presence of a JAK2 mutation, acquired complex karyotype, and TLS underscores the role of clonal evolution in disease progression. Concurrent COVID-19 infection may have contributed to systemic deterioration.Postmortem examination was essential in confirming transformation to blast-phase MPN, emphasizing the diagnostic value of autopsy in unresolved hematologic malignancies. This case underscores the need for early molecular testing and vigilant surveillance for disease progression in high-risk ET patients.
Source: Human Pathology Reports
Institution: Penn State Milton S. Hershey Medical Center
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $1,160
OpenAlex ID: W7128698336