People with<unk> s might not have symptoms when their disease is first detected via blood tests. Depending on the nature of the<unk> , diagnostic tests may include red cell mass determination (for polycythemia), bone marrow aspirate and trephine biopsy, arterial oxygen saturation and carboxyhaemoglobin level, neutrophil alkaline phosphatase level, vitamin B12 (or B12 binding capacity), serum urate or direct sequencing of the patient's DNA. According to WHO diagnostic criteria published in 2016,<unk> s are diagnosed as follows: * Chronic myeloid leukemia Chronic myeloid leukemia (CML) has a presence of the hallmark Philadelphia Chromosome (BCR-ABL1) mutation. * Chronic neutrophilic leukemia Chronic neutrophilic leukemia (CNL) is characterized by a mutation in the CSF3R gene and an exclusion of other causes of neutrophilia. * Essential thrombocythemia Essential thrombocythemia (ET) is diagnosed with a platelet count greater than 450 × 109/L and is associated with the JAK2 V617F mutation in up to 55% of cases and with an MPL (thrombopoietin receptor) mutation in up to 5% of cases:. There should be no increase in reticulin fibers and the patient should not meet the criteria for other<unk> s, in particular Pre-PMF. * Polycythemia vera Polycythemia vera (PV) is associated most often with the JAK2 V617F mutation greater than 95% of cases, whereas the remainder has a JAK2 exon 12 mutations. High hemoglobin or hematocrit counts are required, as is a bone marrow examination showing "prominent erythroid, granulocytic and megakaryocytic proliferation with pleomorphic, mature megakaryocytes." * Prefibrotic/early primary myelofibrosis Prefibrotic primary myelofibrosis (Pre-PMF) is typically associated with JAK2, CALR, or MPL mutations and shows reticulin fibrosis no greater than grade 1. Anemia, splenomegaly, LDH above the upper limits and leukocytosis are minor criteria. * Overtly fibrotic myelofibrosis Like pre-PMF, overt primary myelofibrosis is associated with JAK2, CALR, or MPL mutations. However, a bone marrow biopsy will show reticulin and/or collagen fibrosis with a grade 2 or 3. Anemia, splenomegaly, LDH above the upper limits and leukocytosis are minor criteria. *<unk> -U Patients with otherwise unexplained thrombosis and with<unk> s can not be classified in one of the other categories.
Myeloproliferative neoplasm
Lymphoproliferative disorders
Immunoproliferative disorder
Autoimmune neutropenia
Leukemoid reaction
Myelodysplastic syndrome
B-cell leukemia
B-cell lymphoma