"myeloproliferative neoplasm, NOS"
"Chronic myeloid leukaemia is caused by a reciprocal translocation between chromosomes 9 and 22, creating the fusion gene BCR-ABL1 7. The shortened chromosome 22 containing the fusion gene is called the Philadelphia chromosome."
"All patients with polycythaemia vera and a majority of patients with primary myelofibrosis and essential thrombocytopenia have a gain-of-function mutation in JAK2, which encodes a tyrosine kinase. The most common mutation in patients with polycythaemia vera results in substitution of valine for phenylalanine in a negative regulatory domain (V617F). Most of the remaining minority of patients with primary myelofibrosis and essential thrombocythaemia have a mutation in the CALR or MPL genes."
"Known gene rearrangements associated with myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions involve PDGFRA, PDGFRB, FGFR1, or JAK2 7."
"Patients may present radiologically with thrombosis or bleeding 4. Unexplained splanchnic vein thrombosis, involving the hepatic veins (Budd-Chiari syndrome) or portal vein, is quite commonly associated with myeloproliferative neoplasms (particularly polycythaemia vera and essential thrombocythaemia) and should prompt testing for JAK2 V617F 5."
"There is another separately defined category of "myeloid/lymphoid neoplasms" associated with eosinophilia characterised by specific gene arrangements 6."