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Doctor insights on: Jak2 Mutation Positive

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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?

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?

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. ...Read more

Mutation (Definition)

In genetics, a mutation is a change in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal genetic element. Mutations result from unrepaired damage to dna or to RNA genomes (typically caused by radiation or chemical mutagens), from errors in the process of replication, or from the insertion or deletion of segments of dna ...Read more


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

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

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. ...Read more

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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?

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. ...Read more

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What is the definition or description of: jak2 mutation?

What is the definition or description of: jak2 mutation?

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. ...Read more

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My husband has PVT and is 32 yrs old. He tested + for Jak2 mutation. I would just like any info on others with the same condition, prognosis, etc.?

My husband has PVT and is 32 yrs old. He tested + for Jak2 mutation. I would just like any info on others with the same condition, prognosis, etc.?

Need more info: Because the human body reacts in findings like this his history is very important to answer this question. Call the physician who ordered this test for an accurate answer. ...Read more

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I have ET with Jak2 mutation. What should I be concerned about and is it cancer? My Hemo says no but others say yes??

I have ET with Jak2 mutation. What should I be concerned about and is it cancer? My Hemo says no but others say yes??

By definition: All monoclonal overgrowths of blood cells are cancer by definition, since they spread and invade -- that's what blood does. This being said, essential thrombocythemia is as tame a cancer as one can have, and last I heard, doesn't even shorten life expectancy. Keep an eye on it. ...Read more

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What is the prognostic significance of a jak2 mutation in a person without the defining criteria for a myeloproliferative disorder?

What is the prognostic significance of a jak2 mutation in a person without the defining criteria for a myeloproliferative disorder?

Need close follow-up: The specificity of the jak2 v617f pcr test for the diagnosis of myelpproliferative disorder is very high, near 100%. After excluding sample mix-up, any patient with a positive jak2 mutation should be carefully followed for the development of polycythemia vera, myelofibrosis, or essential throbocythemia. ...Read more

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My platelet count is 631 mpv is 6 3 I don t have the jak2 mutation should I be worried?

My platelet count is 631 mpv is 6 3 I don t have the jak2 mutation should I be worried?

MPN: Likely you have a myeloproliferative neoplasme. Sounds like you have already been seen by a hematologist. If not, you should see one- to determine which condition under myeloproliferative neoplasm group that you have and for further management. Jak2 mutation is majority found in polycythemia vera, 50% in essential thrombocythemia and 40% in myelofibrosis. D/w hematologist in detail. ...Read more

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

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. ...Read more

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How would mutations have both positive and negative impacts?

Good and bad effects: Mutations are genetic changes that can eliminate a problem, cause a problem or introduce a new solution to the environment. Since most mutations create problems, they have achieved a bad name. But most evolutionary change comes about from the effects of new mutations. ...Read more

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

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. ...Read more

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Found out I am positive for mutation in brca 1 gene advice needed please?

Found out I am positive for mutation in brca 1 gene advice needed please?

Life planning: This is something to discuss closely w/ your MD. Ovarian CA more likely w/ BRCA1 than BRCA2. Women w/ either BRCA have >50% chance of developing breast cancer. If you have it, get screened with CA-125 blood test, ultrasound, mammogram/MRI, usually starting at age 30. Surgery after childbearing includes removal of the uterus, ovaries, and fallopian tubes, as well as mastectomy. Good luck. ...Read more

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34yr old sister had a brca test done. Her results came back as positive for one copy of c.6937+594t> g mutation in brca 2 gene. What does this mean?

? deleterious, now U: The testing report should specify if this is a "deleterious" mutation. If it is, then it is present throughout all her breast tissue increasing her risk of a second/subsequent breast cancer. It also confers a significant risk of ovarian cancer. As a 1st degree relative, you would have a 50% chance of carrying the same mutation and should be tested for this specific mutation. ...Read more

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I tested positive for hemachromotosis genetic mutation. My iron levels were high but ferritin was only 50. I'm 19. Should I avoid iron in food?

I tested positive for hemachromotosis genetic mutation. My iron levels were high but ferritin was only 50. I'm 19. Should I avoid iron in food?

No way to avoid iron: Need further details but you should know that Hemochromatosis mutation analysis only diagnostic if a sibling has it. The phlebotomy treatment aims to lower your ferritin to 50 ng/ml or less. The best screen is % saturation of TIBC (total iron-binding capacity), calculated from your TIBC and your serum iron. If 45% or higher, then a ferritin >300 ng/mL in men and >200 ng/ml in women is diagnostic ...Read more

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Can a patient stage 1 papillary thyroid cancer with BRAF mutation positive live more than 20 years (she is 51 years old)? Thank you very much!

Can a patient stage 1 papillary thyroid cancer with BRAF mutation positive live more than 20 years (she is 51 years old)? Thank you very much!

Yes: Papillary thyroid cancer is very common and some people do not even know they have it as small tumors may be found on autopsy when they die of something else. Generally tumors are graded by how ugly they look to the pathologist and how far they've spread. Your tumor has also been molecularly characterized. There are new treatment options available. Please discuss with your oncologist. ...Read more

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Can you test positive for 2 mutations of cystic fibrosis on one copy of a gene? I am 43 and have 2 mutations and they are testing my mother.

Can you test positive for 2 mutations of cystic fibrosis on one copy of a gene? I am 43 and have 2 mutations and they are testing my mother.

Cystic Fibrosis: It is possible to have multiple mutations for cystic fibrosis on one copy of a gene. There are more than 1700 mutations of the cystic fibrosis gene. More about cystic fibrosis genetics via the Cystic Fibrosis Foundation:
https://www. Cff. Org/What-is-CF/CF-Genetics/ ...Read more

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If I test positive for brac gene mutation I get mastectomy with breast implantsin same surgery. How long would be in hospital? How long until normal

If I test positive for brac gene mutation I get mastectomy with breast implantsin same surgery. How long would be in hospital? How long until normal

VARIES: Treatment varies from hospital to hospital as well as physician to physician. Most surgeons and hospitals will do the mastectomies and reconstructions on the same day. Length of time for hospitalization and full recovery varies with the type of surgery and reconstruction done. Take it one step at a time. Get the brca test done first and see what the results show. ...Read more

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What is the definition or description of: mutation?

What is the definition or description of: mutation?

Mutation is a change: In genetics, a mutation is a change in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal genetic element. Mutations result from unrepaired damage to dna or to RNA genomes (typically caused by radiation or chemical mutagens), from errors in the process of replication, or from the insertion or deletion of segments of dna by mobile genetic elements. ...Read more

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What's a blood mutation?

What's a blood mutation?

Clarify: Blood does not mutate. Genes mutate. A genetic mutation (germline as inherited, somatic as in a neoplastic growth) might affect the blood. Someone who knows their subject won't use the term "blood mutation." perhaps there is a misunderstanding. ...Read more

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How can mutations create new traits?

New protein: Most mutations are problematic and create difficulty or are eliminate with normal bodily defenses. Rarely a mutation makes a new protein which has a useful function manifested as a change in the body or metabolism which confers and advantage and will therefore likely survive to the next generation. ...Read more

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What mutation causes haemochromatosis?

More than one: There are at least 4 different type of genes involved in hemochromatosis mutations. See this site for more info.

http://ghr. Nlm. Nih. Gov/condition/hereditary-hemochromatosis ...Read more

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How are sunburns and mutations related?

How are sunburns and mutations related?

Sunburns and mutatio: The ultraviolet light from the sun can affect the DNA in the skin cells. ...Read more

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What type of mutation causes hemophilia?

What type of mutation causes hemophilia?

Hemophilia: A mutation on the x chromosome that affects the blood clotting factors viii or ix. ...Read more

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How do cell mutations happen in fetuses?

How do cell mutations happen in fetuses?

At conception.: At conception the maternal egg or the paternal sperm cell may carry mutations that are passed on to the fetus. ...Read more

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Could hemophilia occur due to a mutation?

Yes, a gene mutation: Hemophilia "a" is a hereditary bleeding disorder where there is a deficiency in clotting factor viii (factor viii is needed for blood clotting). It is inherited on the x-chromosome (sex-linked). Men only have 1 "x", so if their "x" is mutated, they will have the disease. Women have 2 "x's", so they can have 1 mutated "x" and 1 normal "x", and be a carrier of the disease, with mild or no symptoms. ...Read more

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What type of mutation causes thalassemia?

What type of mutation causes thalassemia?

Hemoglobin: Formation is affected in thalassemia. Mutation in one or both of the genes responsible for the production of hemoglobin proteins (alpha and beta globin) lead to decreased production of these proteins, decreased hemoglobin formation and resulting anemia. ...Read more

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Which type of mutation causes down syndrome?

Which type of mutation causes down syndrome?

Trisomy 21: Down syndrome is also called trisomy 21. That means that there is a partial or complete third copy of the chromosome 21. It is the most common chromosomal abnormality. ...Read more

Dr. Steven Griggs
12 Doctors shared insights

Jak2 Mutation (Definition)

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 ...Read more