**Question:** A 56 year old lady comes to medicine OPD with chief complains of headache, dizziness and generalized itching particularly after taking hot shower. She also complained of intense burning in hands and feet as shown. She repos that taking aspirin relieves her of this issue. Physical examination: splenomegaly with raised BP. Blood workup shows: HB- 20.1 g/dl Hematocrit-60-% WBC-15800 platlet count- 500000 EPO- low spO2 - 98% LAP- increased. The patient was diagnosed with JAK2V617F mutation. Which of the following HPE slides correspond to above clinical condition?
A. Polycythemia vera (PV)
B. Essential thrombocythemia (ET)
C. Myelofibrosis (MF)
D. None of the above
**Correct Answer:** D. None of the above
**Core Concept:**
The clinical presentation described in the question is that of a patient experiencing symptoms associated with an increased production of red blood cells, platelets, and elevated EPO levels, with splenomegaly and raised blood pressure. These symptoms are indicative of a group of disorders known as myeloproliferative neoplasms (MPNs), specifically, Polycythemia vera (PV), Essential thrombocythemia (ET), or Myelofibrosis (MF).
**Why the Correct Answer is "None of the above":**
The patient does not fit the criteria for Polycythemia vera (PV), Essential thrombocythemia (ET), or Myelofibrosis (MF). PV is characterized by increased red blood cell mass, ET by increased platelet count, and MF by bone marrow fibrosis. However, the patient has normal hemoglobin (Hb) and hematocrit (Hct) levels (20.1 g/dL and 60%, respectively). Furthermore, the patient's platelet count is not very high (158,000 platelets/microliter), and there is no evidence of bone marrow fibrosis, which is a hallmark of Myelofibrosis (MF).
**Why the patient might have a JAK2 mutation:**
The JAK2 mutation, specifically JAK2V617F mutation, is a genetic abnormality found in Myeloproliferative neoplasms (MPNs), including Polycythemia vera (PV), Essential thrombocythemia (ET), and Myelofibrosis (MF). However, the patient's normal Hb and Hct levels, as well as the relatively low platelet count, make MPNs less likely. Additionally, the normal spleen size and absence of bone marrow fibrosis in this case rules out Myelofibrosis (MF).
**Core Concept:**
The JAK2V617F mutation is a genetic alteration that is often found in individuals with Myeloproliferative neoplasms (MPNs). MPNs are a group of disorders characterized by increased production of red blood cells, platelets, and sometimes white blood cells. The JAK2V61
Free Medical MCQs Β· NEET PG Β· USMLE Β· AIIMS
Access thousands of free MCQs, ebooks and daily exams.
By signing in you agree to our Privacy Policy.