Clinical Edge

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The Challenges of MPN Diagnosis and Risk Assessment

N Engl J Med; 2017 Jun 1; Spivak

Myeloproliferative neoplasms—including polycythemia vera, essential thrombocytosis, and primary myelofibrosis—often show benign myeloproliferation that masks a clone of transformed hematopoietic stem cells that can expand and turn into an aggressive form of bone marrow failure or acute leukemia, according to a recent review.

Each type of myeloproliferative neoplasm is capable of evolving into another, which makes diagnosis, risk assessment, and therapeutic choices challenging. Additionally, the pathogenesis of myeloproliferative neoplasms is puzzling, and, thus, therapy is largely supportive.

Recently, driver mutations have been identified in more than 90% of patients with myeloproliferative neoplasms, providing substantial insight into their pathogenesis. The current challenge is to integrate this new knowledge with the accumulated decades of clinical knowledge to improve diagnosis, risk assessment, and therapy.


Spivak J. Myeloproliferative neoplasms. N Engl J Med. 2017;376(22):2168-2181. doi:10.1056/NEJMra1406186.