Diagnostic Steps
What physical exam should be done when a patient presents with symptoms indicating MPN?
Spleen exam
Presence of this fusion protein leads to a diagnosis of CML.
BCR-Abl
A 60yo patient presents with headaches and dizziness. His CBC shows elevated Hgb and normal WBC count. What is an appropriate next step in diagnosing this patient?
Genetic testing for presence of Jak2 mutation
What two tests are typically ordered first when a patient presents with indications of MPN?
Peripheral blood smear and CBC
Which MPN is associated with elevated hemoglobin and/or hematocrit levels?
Polycythemia Vera (PV)
A 58yo patient with a history of kidney stones presents with night sweats and loss of appetite. What distinct RBC morphology would you expect to see on his peripheral smear?
Dacrocytes (tear drops)
Name 2 of the common constitutional symptoms that might indicate an MPN.
Fatigue, night sweats, weight loss, fever
Polycythemia vera is associated with __ levels of EPO.
Decreased - kidneys sense that there are already high levels of RBCs
A 62yo patient presents with a recent history of MI. You order a CBC, which shows elevated platelets, and genetic testing, which is pending. What additional test would be appropriate, and what might you expect it to show?
Bone marrow biopsy - hyperplasia of megakaryocytes
Once cytosis (CBC) and elevation of 1 or more myeloid lineages with no dysplasia (smear) are confirmed, what is a good next step?
Determine if there are any secondary causes of cytosis (e.g. infection, acute inflammation, chronic hypoxia)
This MPN is often associated with a failed "dry tap" bone marrow aspiration.
Primary myelofibrosis (PMF)
Once presence of a Philadelphia chromosome is confirmed, what test should be ordered for further diagnosis?
Bone marrow biopsy - allows us to distinguish between chronic, accelerated and blast phases
What are the 2 key peripheral smear and bone marrow biopsy findings to diagnose the blast crisis phase of CML?
≥20% basophils in peripheral smear
≥20% blasts in bone marrow or peripheral smear