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Polycythaemia vera with myelofibrosis grade 1.
Bone Marrow, Iliac Crest
Haematoxylin & Eosin (H&E)
58 years
58-year old male patient with haemoglobulin of 193g/l and suppressed Erythropoietin, mild thrombocytosis (503 G/l) and leukocytosis (13 G/l). Genetics: mutation for JAK2 is positive.
Representative trephine core biopsy showing age-correlated hypercellular (100%) bone marrow with trilineage proliferation (panmyelosis). Erythropoiesis is most markedly increased with confluating erythrons. Megacaryocytes are increased in number, form loose clusters and display hyperlobulated nuclei. Myelopoiesis is also increased but appears morphologically normal without increase in blasts.
Fibre stain reveals mild diffuse increase in reticulin fibre network corresponding to myelofibrosis Grade 1.
Virtually all patients with PV carry a gain-of-function mutation of the JAK2 gene which encodes for a kinase of the intracellular signaling pathway; hence the mutation leads to increased proliferation. JAK2 mutation is not specific for PV and occurs in other myeloproliferative neoplasms as well.
Andrea Bodmer, University of Basel
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