You are concerned the patient has a primary haematological disorder due to persistence of thrombocytosis, with reactive causes being ruled out.
Further appropriate investigations include:
- Careful study of the FBC, particularly white cell differential for basophils, monocytes and eosinophils and the haematocrit (we need to rule out a primary polycythaemia or portiential CML or CMML)
- Review of the blood film for dysplastic changes (could this be an atypical myelodysplastic syndrome with thrombocytosis) or left shifted granulocytes (could this be CML?). Variation in platelet size (ansiocytosis) may point towards a primary haematological problem.
- USS abdo if concerns or uncertainties about the absence or presence of splenomegaly
- JAK-2 V617F mutation (which renders haematopoietic stem cells more sensitive to growth factors)
- MPL mutation (often done automatically if JAK-2 V617F is negative)
His blood film does show platelet ansiocytosis but no other abnormal features. the haematocrit and white cell differential are normal and there is no splenomegaly or worrying features in the history.
His JAK2 V617 mutation is positive
- To marrow or not?
- What drug therapy would you use?
- Do you tell the patient they have a malignancy?
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