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2016•Blood Cancer JournalOpen access

Masked polycythaemia vera is genetically intermediate between JAK2V617F mutated essential thrombocythaemia and overt polycythaemia vera

Ing Soo Tiong, Débora A. Casolari, Tran Nguyen, M.J.M. van Velzen, Karen Ambler, Richard J. D’Andrea, David M. Ross

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Abstract

Polycythaemia vera (PV) can be defined as a myeloproliferative neoplasm (MPN) with erythrocytosis and JAK2 V617F (or an equivalent marker of clonality). While these simple criteria are sufficient for most cases of overt PV, an estimated 10–15% of PV patients do not have an elevated haemoglobin concentration (Hb) and may mimic JAK2 -positive essential thrombocythaemia (ET). This poses a problem for accurate diagnosis and may also have clinical significance, since patients with ‘masked’ PV (mPV) might receive less intense treatment leading to shortened survival compared with overt PV. 1

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Polycythaemia vera (PV) can be defined as a myeloproliferative neoplasm (MPN) with erythrocytosis and JAK2 V617F (or an equivalent marker of clonality). While these simple criteria are sufficient for most cases of overt PV, an estimated 10–15% of PV patients do not have an elevated haemoglobin concentration (Hb) and may mimic JAK2 -positive essential thrombocythaemia (ET). This poses a problem for accurate diagnosis and may also have clinical significance, since patients with ‘masked’ PV (mPV) might receive less intense treatment leading to shortened survival compared with overt PV. 1

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Available abstract

Polycythaemia vera (PV) can be defined as a myeloproliferative neoplasm (MPN) with erythrocytosis and JAK2 V617F (or an equivalent marker of clonality). While these simple criteria are sufficient for most cases of overt PV, an estimated 10–15% of PV patients do not have an elevated haemoglobin concentration (Hb) and may mimic JAK2 -positive essential thrombocythaemia (ET). This poses a problem for accurate diagnosis and may also have clinical significance, since patients with ‘masked’ PV (mPV) might receive less intense treatment leading to shortened survival compared with overt PV. 1

Key concepts: Polycythaemia, Polycythemia vera, Medicine, Hematology, JAK2 V617F, Internal medicine, Myelofibrosis, Bone marrow

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Masked polycythaemia vera is genetically intermediate between JAK2V617F mutated essential thrombocythaemia and overt polycythaemia vera — Research Paper | ScholarLens