Testing For Jak2~(v617f) Mutation Across Specimen Types Yields Concordant Results

摘要

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 patients with polycythaemia vera (PV) and approximately half of those with essential thrombocythaemia (ET) and primary myelofibrosis (PMF) carry the JAK2~(V617F) mutation. Recent proposed revisions to the World Health Organization (WHO) diagnostic criteria for these disorders include the presence of ]AKZ~(V617F) mutation as a major criterion for diagnosis. Although various studies have shown that JAK2 mutation testing can be successfully performed on peripheral blood (PB), bone marrow aspirate (BMA), or BM biopsy, comparison of results across different sample types has not been performed. In addition, it is argued that since JAK2 mutated progenitor cells are in most cases a fraction of all progenitor cells, one would detect a higher rate of positivity for the mutation in BM as compared to PB samples.