A 67-year-old male was referred to the Haematology clinic by his general practitioner (GP) due to persistent pruritus for about a month. He has been treated with antihistamines and steroid cream but without improvement. The patient also complained of facial flushing, headache and lethargy. His past history was unremarkable. Physical examination revealed plethora, multiple skin excoriations, and palpable splenomegaly. The patient's oxygen saturation was within normal limits. A full blood count showed the following results. High WBC, RBC, Hb,Haematocret, platelet and low seum erythropoietin level A serum erythropoietin level was ordered and the result was 3 U/L (reference range: 7 to 20 U/L). Molecular biology tests revealed the presence of a JAK2 V617F mutation a. What are the key features of the full blood count results? Which disease(s) may present with such findings? b. What is the most likely diagnosis? Please provide the supporting evidence for the diagnosis. c. Which additional laboratory investigations should be performed to further support the diagnosis? How would you predict the results to be obtained in this case? d. What is the molecular pathogenesis of this disease? e. Which targeted therapy would you recommend for this patient? Please discuss the mechanism of action of this therapy.
A 67-year-old male was referred to the Haematology clinic by his general practitioner (GP) due to persistent pruritus for about a month. He has been treated with antihistamines and steroid cream but without improvement. The patient also complained of facial flushing, headache and lethargy. His past history was unremarkable. Physical examination revealed plethora, multiple skin excoriations, and palpable splenomegaly. The patient's oxygen saturation was within normal limits. A full blood count showed the following results. High WBC, RBC, Hb,Haematocret, platelet and low seum erythropoietin level A serum erythropoietin level was ordered and the result was 3 U/L (reference range: 7 to 20 U/L). Molecular biology tests revealed the presence of a JAK2 V617F mutation a. What are the key features of the full blood count results? Which disease(s) may present with such findings? b. What is the most likely diagnosis? Please provide the supporting evidence for the diagnosis. c. Which additional laboratory investigations should be performed to further support the diagnosis? How would you predict the results to be obtained in this case? d. What is the molecular pathogenesis of this disease? e. Which targeted therapy would you recommend for this patient? Please discuss the mechanism of action of this therapy.
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