Testing for JAK2 V617F Mutation Across Specimen Types Yields Concordant Results
Abstract
Chronic myeloproliferative neoplasms (CMPN) are a group of hematopoietic stem cell disorders associated with abnormal blood cell production and bone marrow (BM) morphology. Myeloid cells from the majority of polycythemia vera (PV) patients and approximately half of essential thrombocythemia (ET) and primary myelofibrosis (PMF) patients carry the JAK2 V617F mutation.1-3 Recent proposed revisions to the World Health Organization (WHO) diagnostic criteria for these disorders include the presence of JAK2V617F mutation as a major criterion for diagnosis.4 Although various studies have shown that JAK2 mutation testing can be successfully performed on peripheral blood (PB),1-3 bone marrow aspirate (BMA),5 or BM biopsy,6, 7 comparison of results across different sample types has not been performed.
