JAK2 Mutation and High Platelet count

Posted by pattitoo @pattitoo, Nov 25, 2020

I was being treated for low iron – was sent to a Oncology Hematologist- had Iron Infusions – gradually the iron values increased.
Only received an infusion two times.
The doctor is seeing me every 6 months, Platelets are increasing and I was told I was born with the JAK 2 Mutation
apparently never surfaced ever until recently. I was a regular blood donor, and years ago I was needing iron and saw this same type of physician.
For raising Plattlets, eventually I will be put on a medication, he said my count must be 1.000,000 first (one million)
What in blood work determine a Jak 2 Mutation? I have not given blood since the two diagnoses.
Any information of your experiences or knowledge will be appreciated.
Thank you.

Sounds like Essential Thrombocythemia (ET) which is one of the MPN diseases. I was originally diagnosed with ET by a Hematologist but after I had a bone marrow procedure and a molecular panel my final diagnosis was MDS/MPN-RS-T. I also have the JAK2 mutation and a high platelet count. So I’m on Hydroxyurea to reduce the platelet count. I also have several other gene mutations including the splicing genes SRSF2 and SBF31 which is on the MDS side. Not sure how your Hematologist can say you were born with the JAK2 mutation because exposure to toxins can cause gene mutations. I suggest you get a bone marrow procedure and the molecular panel done to confirm your diagnosis. Good luck

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@mjpm2406

Sounds like Essential Thrombocythemia (ET) which is one of the MPN diseases. I was originally diagnosed with ET by a Hematologist but after I had a bone marrow procedure and a molecular panel my final diagnosis was MDS/MPN-RS-T. I also have the JAK2 mutation and a high platelet count. So I’m on Hydroxyurea to reduce the platelet count. I also have several other gene mutations including the splicing genes SRSF2 and SBF31 which is on the MDS side. Not sure how your Hematologist can say you were born with the JAK2 mutation because exposure to toxins can cause gene mutations. I suggest you get a bone marrow procedure and the molecular panel done to confirm your diagnosis. Good luck

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Thank you for getting back with me – I truly am appreciative for you input. Have questions and am willing to do any tests recommended.
So far he has not suggested any other tests, just the med when Platelets reach 1 million.
I am totally clueless what arm of the blood work showed the JAK 2 Mutation. It was my 3 visit he told me of JAK 2 and very little blood work was done for that visit. I always get copies of my blood work.

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Hi, ı am a patient who does have a MF/MDS overlap with JAk2 and SBF31 mutations, ı was initially diagnosed with Primary MF but after genetic testing the SBF31 mutation made the change in diagnosis to the MDS overlap. I was diagnosed 12 yrs ago and initially started out with monthly bloodtests and Hydrea as med. Then 3 months check ups and bloodtests (CBC) followed, with once yearly bone marrow aspiration. My platelets were always high end of normal or slightly too high. I developed an enlarged spleen, . About 5 years ago ı developed Anemia and started out on Jakafi, it got worse and ı became transfusion dependant.A bone marrow aspiration showed complete fibrotic marrow The Jakafi was adjusted and a weekly Procrit shot made me fransfusion independent again. I have now weekly CBC blood draws, but ı am now in a high risk category of the disease. You are the first SBF31 mutated patient ı heard off. Be positive and although my platelets are still slightly higher than normal ı only take the 80 mg asperin daily. I feel ok and have minimum discomfort.

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As I understand it, the SRSF2 mutation is worse than the SBF31 mutation as it relates to the evolution of the MDS/MPN overlap condition to full blown CLL. According to the Leukemia doctors at Sloan there is a 30% chance of mutation to full blown CLL. Not bad. I can live with a 70% chance of no CLL in my future. If my overlap mutates and I’m a candidate for a stem cell transplant I’m OK with that. I just underwent a EMG and needle EMG at Weill Cornell in Manhattan along with two genetic tests. One is exome sequencing and the other is whole exome. I have a family history of peripheral neuropathy going back five generations that I know if. Mine is getting bad and my 45 year old daughter has started showing the same symptoms. The exome tests look at 20,000 genes for mutations and it analyzes the protein levels produced by each gene in your genome. Cornell was excited to have a parent and child with the same symptoms so we’re guinea pigs for a research trial. My EMG results indicated severe axonal neuropathy but the geneticists won’t give me a final diagnosis until the exome tests are done in mid-January.

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@pattitoo

Thank you for getting back with me – I truly am appreciative for you input. Have questions and am willing to do any tests recommended.
So far he has not suggested any other tests, just the med when Platelets reach 1 million.
I am totally clueless what arm of the blood work showed the JAK 2 Mutation. It was my 3 visit he told me of JAK 2 and very little blood work was done for that visit. I always get copies of my blood work.

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My doctors at Sloan Cancer Center told me that you must do a bone marrow procedure and a molecular panel before you can properly diagnose any form of blood cancer or Leukemia. I was misdiagnosed based on a blood test. It appears your Hematologist may be making the same mistake my Hematologist made. Incidentally, I no longer see that Hematologist because she said to me, “I know exactly what’s wrong with you and I know how to treat you.” She then said I didn’t need a bone marrow procedure. The Sloan doctors said she’s wrong and the very first thing they did was the bone marrow procedure and the molecular panel. Based on those tests I now have a diagnosis based on science, not a doctors analysis of my symptoms.

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@helen2209

Hi, ı am a patient who does have a MF/MDS overlap with JAk2 and SBF31 mutations, ı was initially diagnosed with Primary MF but after genetic testing the SBF31 mutation made the change in diagnosis to the MDS overlap. I was diagnosed 12 yrs ago and initially started out with monthly bloodtests and Hydrea as med. Then 3 months check ups and bloodtests (CBC) followed, with once yearly bone marrow aspiration. My platelets were always high end of normal or slightly too high. I developed an enlarged spleen, . About 5 years ago ı developed Anemia and started out on Jakafi, it got worse and ı became transfusion dependant.A bone marrow aspiration showed complete fibrotic marrow The Jakafi was adjusted and a weekly Procrit shot made me fransfusion independent again. I have now weekly CBC blood draws, but ı am now in a high risk category of the disease. You are the first SBF31 mutated patient ı heard off. Be positive and although my platelets are still slightly higher than normal ı only take the 80 mg asperin daily. I feel ok and have minimum discomfort.

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My doctors at Sloan said they’ll do another bone marrow procedure when my blood work indicates it’s necessary. I had my first BM over two years ago and my major symptom was a high platelet count so they put me on to reduce the platelet count. My blood counts are now in or close to the normal range so I now go every three months for blood work.

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@pattitoo

Thank you for getting back with me – I truly am appreciative for you input. Have questions and am willing to do any tests recommended.
So far he has not suggested any other tests, just the med when Platelets reach 1 million.
I am totally clueless what arm of the blood work showed the JAK 2 Mutation. It was my 3 visit he told me of JAK 2 and very little blood work was done for that visit. I always get copies of my blood work.

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@pattitoo, here's more information about lab testing done for JAK2 mutation https://labtestsonline.org/tests/jak2-mutation

I'm so glad that @mjpm2406 and @helen2209 have similar experiences to share to help you know what questions to ask. Pat, what did your doctor say the next step is?

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@colleenyoung

@pattitoo, here's more information about lab testing done for JAK2 mutation https://labtestsonline.org/tests/jak2-mutation

I'm so glad that @mjpm2406 and @helen2209 have similar experiences to share to help you know what questions to ask. Pat, what did your doctor say the next step is?

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Colleen.
All he said was to see him in 6 months – when I questioned him about the JAK mutation he said I was born with it…being 78 in age, never in my I have I ever been told anything about JAK 2, also never an out of range platelet count. I feel I should get an appointment with him and get answers and more testing. Slight Anemia is all I have ever had, the last episode I was placed under his care and had 2 iron infusions, eventually my levels were in a normal range.
Several years ago I was under the care of an Heme Oncologist – Iron issue etc and I was a regular blood donor – he suggested I could give, however not so often, all was well with a different Iron Supplement, a Polysaccharide-Iron Complex. I did cut back on donations, significantly and have not donated with the JAK 2. diagnosis. Still pondering what said I had JAK 2 – as blood work looked good to me.
I am most grateful for this group of posters who are sharing and your help Colleen.
A thank you from my heart to each and everyone of you.

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I understand that it is all very confusing. First are the difgerent diseases in the MPN geoup, ie: ET, PV and primary MF. Over the course of the disease the PVvand ST can turn into a post MF. They are all rare diseases and each patient experiences different side effects and gets different medications. We all do need an understanding doctor Hematologist who can tell you how to deal with this all. Good luck and be safe!

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Helen2209 – you are right, I am confused – deeper information should have come from the doctor.
Possibly see another doctor is in order.
The terminology is new to me, I normally have a curiosity on learning things medical….this is to much for me.
With the help from posters like you and Colleen, I will muddle through this.
Thank you very, very much for your reply.

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@helen2209

I understand that it is all very confusing. First are the difgerent diseases in the MPN geoup, ie: ET, PV and primary MF. Over the course of the disease the PVvand ST can turn into a post MF. They are all rare diseases and each patient experiences different side effects and gets different medications. We all do need an understanding doctor Hematologist who can tell you how to deal with this all. Good luck and be safe!

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Allow me to be the acronym buster (self-proclaimed 🙂
MPN = Myeloproliferative neoplasms, a group of diseases that affect blood-cell formation.
ET = Essential thrombocythemia, an uncommon disorder in which your body produces too many platelets.
PV = polycythemia vera, a blood disorder in which the body makes too many red blood cells.
MF = Myelofibrosis, an uncommon type of bone marrow cancer that disrupts your body's normal production of blood cells.
(ST, I believe this was a typo for ET.)

The JAK2 mutation is acquired and not inherited. People are not born with this mutation, but instead develop it in their bone marrow cells sometime later in life. @pattitoo, I would question your doctor about this and encourage you to get clearer answers.

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@pattitoo

Helen2209 – you are right, I am confused – deeper information should have come from the doctor.
Possibly see another doctor is in order.
The terminology is new to me, I normally have a curiosity on learning things medical….this is to much for me.
With the help from posters like you and Colleen, I will muddle through this.
Thank you very, very much for your reply.

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You should look at the MPN Research Foundation webpage for information regarding ET and the JAK2 mutation. Lots of good material on their webpage.

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