Question 1

what will happen to patient with positive jak2 mutation assay? 

thank you

Accepted Answer

Needs more workup: Hi many different types of myeloproliferative diseases can have a positive jak-2 mutation. If possible please can you tell me more. Thanks.

Question 2

i tested positive for a jak2 mutation on a blood test and when my marrow was tested the jak2 mutation was not found.  how can this be?

Accepted Answer

Borderline result?: You are correct to wonder how a genetic test that is positive in blood can be negative in marrow, because a marrow aspirate is around 50% blood. If a blood test was borderline to begin with (due to a low percentage of positive cells), or if it was a false positive, then it may turn up negative in the marrow.

Question 3

what is the definition or description of: jak2 mutation?

Accepted Answer

See below: The jak2 mutation is a genetic change found in about 9 out of 10 people with
polycythemia vera (pv).
Jak2 is part of a signaling system (like a thermostat) that helps tell the bone marrow when to start and stop making blood cells. Most people with pv have acquired a mutation(change) in their jak2. Because of this change, the bone marrow makes too many blood cells.

Question 4

i have et with jak2 mutation.  what should i be concerned about and is it cancer?  my hemo says no but others say yes??

Accepted Answer

ET is a pre-cancer: ET is a chronic disease which can be treated well for many years. Although it is not a true cancer to start with, but it can change into a cancer after 10-15 years. So it is best called a precancerous condition. So what your doctors have told you is largely correct.
I expect you to feel well and function like a normal healthy person. I hope this helps!

Question 5

is there a correlation between sickle cell and the jak2 mutation?

Accepted Answer

It doesn't appear so: I can find no reports of an association between sickle cell anemia and jak2 mutations. Jak2 is a gene involved in promoting growth of red blood cells. The confusion may have arisen from some reports suggesting that stimulators of jak2 might be useful in gene therapy treatments for sickle cell disease.

Question 6

i have had 2 pe's in 3 yr span, rbc is 5.38 hematocrit is 51%, hemoglobin is 17.1, negative for jak2 mutation, on xarelto 20 mg, could i still have pv?

Accepted Answer

Very unlikely: The  2 episodes of PE indicate the possibility of a problem in the clotting mechanism like abnormality in factor V. Consequently thrombosis in a  leg or pelvis may arise leading to PE. it is very appropriate to to resort to anticoagulation,
 Hypoxemia , as a consequence  of PE can often  result in stimulating the bone marrow to produce a higher than normal average of H and H,. Follow up -

Question 7

is it even possible to have polycythemia vera with a negative jak2 mutation?   current lab results are on previous question. biopsy performed 04

Accepted Answer

Yes: There is another mutation called, exon 12 in about 1-5% of the pv. And rarely there other. Mutations that we do not. Know

Question 8

im a 26 year old male who lives at high altitude in denver, co. hgb: 18.3 hct: 53.1 rbcs 5.9. is this normal? i tested negative for the jak2 mutation and my epo was 8 my hematologist said cause was to living at high altitude?

Accepted Answer

: Usually a bone marrow biopsy is done as well as part of the work up for polycythemia if reasons to believe erythropoiesis is involved. Gaisbock syn is also a poorly understood condition associating hypertension to polycythemia. If using any supplements, smoking or vaping, discontinuing all may help in removing possible culprits.

Question 9

is there a possible link between hereditary hemochromatosis, polycythemia vera (primary jak2 mutation), & idiopathic pulmonary arterial hypertension?

Accepted Answer

No direct: Associations that I am aware of.

Question 10

i tested positive for harmful brca 2 mutation....so unsure what to do

Accepted Answer

Genetic Counseling: Have you met with a genetic counselor?  If not, i strongly recommend this. Testing brca-2 (+) puts you at an increased risk for breast and ovarian cancer (as well as ca  of the stomach, pancreas, gallbladder, bile ducts, and melanoma).  Options include surgical prophylaxis (mastectomy, oophorectomy), chemoprevention, and close surveillance.  These decisions are best made with a professional.

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Doctor answers about:

Jak2 mutation positive

A member asked:

What will happen to patient with positive jak2 mutation assay? thank you

A member asked:

I tested positive for a jak2 mutation on a blood test and when my marrow was tested the jak2 mutation was not found. how can this be?

A member asked:

What is the definition or description of: jak2 mutation?

A member asked:

I have et with jak2 mutation. what should i be concerned about and is it cancer? my hemo says no but others say yes??

A member asked:

Is there a correlation between sickle cell and the jak2 mutation?

A member asked:

I have had 2 pe's in 3 yr span, rbc is 5.38 hematocrit is 51%, hemoglobin is 17.1, negative for jak2 mutation, on xarelto 20 mg, could i still have pv?

A member asked:

Is it even possible to have polycythemia vera with a negative jak2 mutation? current lab results are on previous question. biopsy performed 04

A member asked:

Im a 26 year old male who lives at high altitude in denver, co. hgb: 18.3 hct: 53.1 rbcs 5.9. is this normal? i tested negative for the jak2 mutation and my epo was 8 my hematologist said cause was to living at high altitude?

A member asked:

Is there a possible link between hereditary hemochromatosis, polycythemia vera (primary jak2 mutation), & idiopathic pulmonary arterial hypertension?

A member asked:

I tested positive for harmful brca 2 mutation....so unsure what to do

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