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Q. When is JAK2 mutation considered life-threatening?

Answered by
Dr. Pooja Pardhi
and medically reviewed by Dr. Sneha Kannan
This is a premium question & answer published on Aug 29, 2020

Hi doctor,

I understand that JAK2 myeloproliferative or myelodysplastic overlap disorder is life-threatening if it turns into an acute transformation. However, in your opinion, is the condition generally considered life-threatening when there has not yet been a severe transformation? That is when it is a JAK2 myeloproliferative or myelodysplastic overlap disorder and has not acutely transformed. I am aware that it is a very serious condition. Also, is there another medical term for an "acute transformation?" Thank you.

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#

Hi,

Welcome to icliniq.com.

I have gone through your query.

JAK2 mutations are severe conditions if they undergo an acute transformation. It means the cells in our body, especially the precursors of our blood cells (red blood cells, white blood cells, and platelets), start proliferating suddenly and excessively.

There are more immature blood cells in the body than mature cells, which leads to the hampered action of the cells. There will be low mature red blood cells, white blood cells, and platelets, which causes anemia (low hemoglobin), increased susceptibility to infections (common and uncommon both) and bleeding tendencies from anywhere in the body.

This acute transformation will occur when nobody can predict. Even overlap disorders can be dangerous.

Thank you.

Thank you doctor.

Although the overlap disorder can be "dangerous," would you consider such a condition to be "life-threatening" if it has not reached the acute transformation stage?

Do myeloblasts have to be at a certain level for a diagnosis of an acute transformation of the condition to be confirmed?

Thank you.

#

Hi,

Welcome back to icliniq.com.

The patients with JAK2 mutation do not have any significant symptoms when not in the acute stage. Still, they can have non-specific symptoms like generalized body ache, easy fatigability, mild infections, which are not so serious. They are not completely alright all the time.

At some point in life, they have to face complications of acute transformation stage. Yes, there are criteria to diagnose it.

Myelodysplastic syndromes include certain diseases which are,

  • Polycythemia vera.
  • Essential thrombocytosis.
  • Chronic myeloid leukemia.
  • Primary myelofibrosis.

Each of these disorders has different diagnostic criteria depending on the histopathological appearance of bone marrow examination and peripheral blood smear examination (presence of blast cells or immature cells and their percentage). Symptoms and seriousness arrive only when there is an acute transformation. The acute transformation stage is also called 'leukemic transformation.'

Thank you.


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