Bone Marrow Aspirate Trephine and Karyotype

A marrow examination should be performed in every patient with an absolute erythrocytosis, except where the cause is obviously secondary. Characteristic changes can be seen in both the morphology97 and histology (most recently reviewed Ref. 98). The marrows are often hypercellular with all three cell lineages prominent, megakaryocytes are pleomorphic and may display clustering and increased ploidy, and iron stores are classically absent. The reticulin should be normal or only moderately raised. As the interpretation of bone marrow morphology and histology are subjective and may vary between individuals looking at the same sample, marrow morphology and histology are used only in a confirmatory diagnostic capacity, and do not currently form part of the formal diagnostic criteria for PV.

An acquired abnormality of the marrow karyotype confirms the presence of clonal hematopoiesis, and as such is a major diagnostic criterion for PV. The specific chromosomal abnormalities and their significance are discussed in more detail in the previous pathogenesis section.

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