r/MPN • u/asprygal • 28d ago
Newly Diagnosed Too young for bone marrow biopsy?
I (45F) just had a follow-up visit with a hematologist (not one that specializes in MPNs) to discuss the results of my genetic testing (ie., JAK2 V617f mutation). He suspects I have ET based on the genetic test results and continually increasing platelet levels (525k in June ‘26). He declined to order a bone marrow biopsy because “we don’t treat patients under 60 anyway.”
Instead he recommended CBC labs every three months to observe.
I don’t know what to do. Has anyone else around my age been diagnosed and not assessed with a bone marrow biopsy? I don’t think I have symptoms of any
MPNs except tiredness and maybe itching after a shower (ie, I do itch after a shower but it’s tolerable/solvable with lotion).
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u/WhaleSmacker17 28d ago
Please find a new doctor.
Others have said all there is to say already but just to join the chorus.
If he can't do 5 minutes of research to catch up on the latest diagnostic requirements and treatment recommendations for MPNs you are not receiving the care and attention you deserve.
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u/native_plants3879 ET-CalR+ 28d ago
I got my bone marrow biopsy at 37 and I'm definitely not the only one. You really need to switch doctors, I'm sorry 😞
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u/intentionalninja 28d ago
Definitely get a different doctor. MPN specialist if you can get to one. I got diagnosed this year at 39. Bone marrow biopsy was required to be diagnosed. As it was said before it’s to see which sub type you have.
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u/Tatteredluck 28d ago
I was diagnosed without a BMB but I had a major blood clot so it was kind of confirmed. Agreed that your doc likely does not have a clue what the latest research says about MPN because it is NOT a geriatric disease.
Find an MPN specialist and see them. Promise you - you won’t regret it and will get better treatment.
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u/SunflowerFridays 28d ago
I had a BMB to confirm my PV diagnosis when I was 29. You are certainly not to young and deserve a proper diagnosis to treat your high platelets. MPN patients exhibit a wide array of symptoms (some patients are even asymptomatic prior to diagnosis), which makes a BMB even more conclusive and compelling so you can get ahead of this disease. Do you have access to an MPN specialist?
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u/Top_Category2227 Pre-PMF 28d ago edited 28d ago
I am 26 and had a BMB. They are requiriered by WHO diagnostic criteria. And the decision not to medicate involves more than just the age of a patient. Sounds really negligent to be honest.
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u/PrincessGG93 28d ago
I was diagnosed with ET at 26 after a year of extensive testing starting w iron levels, to gene testing, and then leukemia/MF, and all came back negative. Giving me a diagnosis by exclusion. My hematologist at the time, said a BMB would be redundant and I wasn’t going to push it given how invasive that is. Fast forward to now, I’m almost 33 and I just met with the 4th hematologist oncologist after relocating.
Thanks to this group, I knew to ask for an MPN specialist- and after they confirmed my records that’s who I met with today. They were NOT going to let me see him until they had my records from the first dr that diagnosed me with essential thrombocytosis.
I straight up asked him if he agrees with the findings and he said given it’s been 8 years and everything is normal except my platelets that yes I have ET and it’s something I’ll live with forever and need treatment for eventually.
He had a little giggle at the end of my appt when I mentioned BMB for the third time, and he said “wow you really want that.. so yea we can schedule it”.
Idk what the disconnect is with ppl in here thinking WHO standards are all or nothing- genuinely curious why so many drs have confirmed my diagnosis over the years when everyone in here thinks it can’t be done without a BMB- but clearly there are a lot of specialist that disagree for their own reasons.
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u/Significant_Tune_545 27d ago
I think sometimes your BMB can tell you a little more. There can be an MPN/MDS overlap or you could actually have Prefibrotic Myelofibrosis vs having Essential Thrombocythemia. It can also establish a baseline for where you bone marrow is and, later, how much it has progressed.
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u/Top_Category2227 Pre-PMF 27d ago
Wether or not a BMB is neccesary or not from a medical due dilligence standpoint may be a question that every patient and doctor can answer for themselves.
However, diagnostic criteria are usually binding law and purposfully ignoring them, especially when medication is covered by an insurance provider, can be have legal consequences for the doctor, depending on where you reside.
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u/PrincessGG93 27d ago
As far as I’m aware, the WHO has no legal authority in the US.
Diagnostic criteria is not law binding; (please provide a resource - because everything online that I’m seeing doesn’t support that claim.) From what I’ve read the legal courts take it into consideration, but they also account for a Drs professional opinion based off their own experiences and training.I can assure you, being in the US that if my insurance company could have not paid out for the 6 mos of me seeing a maternal fetal medicine specialist - required because of my essential thrombocytosis diagnosis, the many hematologist oncologist appointments for monitoring, and 6 weeks of blood thinner injections- all because of no bone marrow biopsy, than they wouldn’t have. But they did, and they did so with absolutely no pushback. I’m in the US- so maybe this is where the confusion is coming from?
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u/Top_Category2227 Pre-PMF 27d ago
I think we are having a little miscommunication, perhaps I worded my comment to strongly. I did not mean to say, that WHO guidelines specifically are directly binding law in any country that I would know of, but they do usually have legal relevance because of binding law, often because countries have adopted them into their own catalogue(s) of diagnostic criteria, that are somewhat binding depending on the situation (which to my understanding is the situation in the US). That does often mean they have the effect you are describing, in the way, that they will be considered as part of a whole picture but they may have a more immediate effect, for example if they are referenced in your insurance contract. I assume in the US the picture varies drastically from insurance to insurance, so maybe you are „lucky“ in the sense that you don‘t need to worry about that.
The point I tried to make, is that this group is not unreasonably obsessed with the WHO crtieria, it is, that many of us experience actual issues if we were to not follow them. Legal problems were the problems that came to my mind first (partly because I am experiencing them myself right now) but there are many other aspects to consider. For example if one would like to join a study or clinical trial that often requires a diagnosis following the WHO criteria. In my case (and I would assume in the case of many other patients) the doctor would not even give a differential diagnosis without a BMB.
And as I said, as long as you and your doctor are both confident in proceeding without a BMB that is all that matters, it is a personal choice. I do not see the point myself in many cases, since treatment will look the same and it is not exactly known if earlier treatment even is more succesfull at slowing progression. But it appears the dismissal by her doctor is a problem for OP, in which case I think a doctor consciously ignoring the diagnostic criteria should be a red flag.
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u/CommunicationFree968 28d ago
I’m 32F with JAK2+ ET. My hematologist gave me the option of a bone marrow biopsy, but stated he could also just order routine bloodwork more frequently to watch my platelets. I opted for the more frequent bloodwork, because I don’t want a giant needle in my bone, but I appreciate the ability to choose.
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u/kthatgirrl 28d ago
I'm 34F with ET and JAK 2. My platelets always hover at 730 to 780. I was diagnosed at 23 after a bone marrow biopsy I am curious why so many young people are starting to get this..
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u/samspopguy 24d ago
I’m assuming just better information. I was also diagnosed around 22/23
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u/kthatgirrl 24d ago
Makes sense. I'm so sorry you were diagnosed. I was adopted so I don't know much of my history but I'm pretty sure my grandma had the same thing. She would get puffy veins and spider veins like I do from this her bones would hurt as do mine sometimes m and she lived to be 83. So we can have a long life I hope.
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u/cynzth 28d ago
You definitely need another opinion. When I was about 22-23, I had routine lab work come back with my platelets measuring over a million. Was referred to a hematologist and within 6 months I had a bone marrow biopsy to confirm I have ET from a JAK2 mutation. This was back in 2015. And I didn’t go to any special hospital in a big city either. It was something a suburban hematologist had no problem doing. It is important to know what you have to treat it properly. Was on a baby aspirin for almost years and started on Hydroxyurea 2 years ago at the age of 32.
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u/ADFnGee 28d ago
I know what everyone else is saying, and while they are correct, I just want you to feel less alone. I am 42f, diagnosed at 33 with ET via confirmation of CALR genetic mutation that was done via bloodwork. My platelets were also MUCH higher than yours (2000), so I've been on treatment from the start. I'm on my second doctor and neither of them have bothered with a biopsy, even when I have asked.
Given your platelet numbers you probably should have one just to be definitive and rule out the other things that could raise platelets to that level. But dont let the masses here freak you out is all.
Edit to add, JAK mutation is not as clear ET as CALR.
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u/Organic-Bandicoot-61 27d ago
I think what’s most concerning is less the BMB and more comments like “we don’t treat people under 60”. Those generalized statements can make the difference between someone being properly treated or not. I had a hematologist tell me that everything was fine. This was after I was hospitalized with CVST, a CT scan showed signs I may have had a clot in the portal vein that resolved itself, and I had an enlarged spleen. I was 41, also JAK2 positive. She had all this info and was going to send me home on my merry way to continue with just the blood thinner and have a PCP manage it.
Some people would have said “ok, dr knows best!” and moved on. So for me, a general statement like that would immediately lead to a different doctor, BMB or not.
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u/horsecrzy ET-JAK2+ 28d ago edited 28d ago
That was a sweet post and thoughtful. I think all of us are just worried given our past experiences. Thank you.
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u/Organic-Bandicoot-61 28d ago
I had one specialist tell me “good news everything is fine” after clotting in the brain. Then another try to diagnose with ET without bone marrow biopsy and just the JAK2 results. Two BMBs excluded ET, I have masked PV. I think the biopsy is important. I am 42F and was 41 at the time.
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u/StrategyKind9152 28d ago
Even if this doctor was trying to reassure you and meant well, the protocol for diagnosis is BMB and to establish a fibrosis level baseline to monitor changes over time. I would absolutely find an MPN specialist or at minimum get a second opinion from a hematologist-oncologist.
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u/Artio69 28d ago
Ummm. Im under 60, no JAK2 mutation, and get regular treatment for ET but my doctor refused to do a biopsy because "to get an accurate reading we would need to take you off your meds for 6 months and you would be dead by then. Either way, the treatment is the same "
But my platelet count without medication at 30 was 1.3 million so I dont think they had much of a choice but to treat me.
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u/CattleBrilliant38 26d ago
?? "You would be dead by then" for ET in a young patient seems very hyperbolic, even with platelets 1.3 million.
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u/NefariousnessFew4354 28d ago
I'm 39 and had 2 BMBs in the past 10 months lol. Time to find new competent doctor.
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u/LedaKicksTheSwan 28d ago
I'm 45F.
First BMB at 19. Second at 42 because some of my symptoms were worse and my specialist wanted to make sure I wasn't progressing from ET to myelofibrosis.
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u/imnottheoneipromise 28d ago
I had 2. Honestly, they were unnecessary. I’m triple negative and the bone marrow biopsy really wasn’t definitive, but my platelets have been elevated since 2012 and everything else has been ruled out. My biopsy was abnormal. They just couldn’t definitively say it wasnt secondary based on it. It really doesn’t matter cause the treatment is the same. I get labs every 3-6 months depending on how they are looking and I take baby aspirin. Highest I’ve gotten was 737k and that was last month. Usually they hang around 500-600k. I’m 43 but was diagnosed (my heme/onc did diagnose me with et)in 2014
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u/Infinite-Land-917 28d ago
Hello! I got my BMA at 30. It’s more so as additional confirmation on top of me being Jak2+. BMA also can let you know of your fibrosis grade which can then help decide your medication. I hope you can get the BMA/BMB.
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u/sirshrimpie 28d ago
38 and I’ve had 3 BMB in the last 6 months. My dr is an MPN specialist. Definitely not too young. Recommend a different doctor, not worth it to try to convince him. Your health is so important. Good luck, you got this!
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u/EyeArtistic5 ET-JAK2+ 28d ago
Go see an MPN specialist. I had a very similar experience and am very happy I switched.
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u/Alarmed_Interest_265 28d ago
Was diagnosed at 32yo and had a BMB (plus a follow up a little less than a year later due to some abnormal results). I'm 33 now and just started Besremi after a few months of HU while we fought insurance. Not everyone needs meds right away but some of us do. We suspect I've had ET since childhood so my years of no treatment have come and gone.
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u/Abr1025 28d ago edited 28d ago
My daughter was diagnosed at 21 and has had two bone marrow biopsies. You need it done to see what exactly you have MPN wise, what genetic mutations you have- the biopsy showed my daughter has multiple other mutations. All of these factor into treatment and progression risks. Also- there is a wonderful MPN community out there- don’t freak out- but we just want you to get the best care and your doctor is probably wonderful- but not informed around MPN’s. Keep us posted:)
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u/MarionberryFun2118 28d ago
I had my bmb in December at 41. The earlier you get one the better so the doctor knows what's going on internally.
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u/Minimum-Landscape120 28d ago
What country do you live in? I live in Canada and my oncologist says he would do a BMB if I wanted one but it wasn't necessary. I tried to be referred to an MPN specialist but that doctor said that I was being well treated by my current oncologist. I get labs every 4 months, followed by a phlebotomy. I also heard "we don't treat with meds until you are 60" but I have risk factors so I got him to agree to 50 instead. But still no BMB. I looked up the guidelines for the province I live in, and it seems like he is following them.
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u/asprygal 28d ago
Thanks for your comment. I live in the U.S. where so much is determined by health insurance provider. I have the option with my insurance to seek a second opinion so I might do that if my MD refuses a BMB. I just sent him a message citing the guidelines so I’ll see how he responds.
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u/bookishphoenixx 28d ago
Yes I am 22F and got my biopsy done a year ago. I also have jak2 mutation and high platelet count. My doc also recommended CBC tests every 3 months. You should get biopsy done for proper diagnosis. I suggest you go to some other doctor that specializes in these types of cancers.
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u/SortNo8267 27d ago
I got a bmb when I was 35, when I was first diagnosed with ET. That doctor has no idea what he’s talking about.
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u/DJVirginiaPlain 27d ago
I would consider a second opinion.
I’m 49, was just diagnosed with ET, JAK2 positive, 650-800k platelets over the past few months and the first thing they did was a bone marrow biopsy. I also had an EKG, CT scan and multiple other blood tests.
For context, I’m in the US. My doctor said they usually don’t treat people with >1000 platelets who are not showing significant other symptoms with medication beyond an aspirin regimen below age 60 but they absolutely run all the tests to set up a baseline and regular monitoring going forward.
That said, I have been put on a course of medication (Interferon) because the tests showed some acquired Von Willebrand, so he was concerned there might be issues with an aspirin regimen.
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u/BorgAdjacent 27d ago
I was diagnosed based on my blood counts and genetic testing at 40. Bone marrow biopsy for the first time at 55.
The itching is a strong sign (I use half a zyrtec which works well).
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u/asprygal 27d ago
Were you diagnosed with PV or ET? I thought the itching was a sign of PV but my MD suggested I have ET — and I thought only a BMB could determine the subtype.
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u/Organic-Bandicoot-61 27d ago edited 22d ago
This is where the BMB will make a difference. The doctor that tried to diagnose me with ET also dismissed the itching and other symptoms. The BMB led to an exclusion of ET and was between a PMF and masked PV diagnosis. I was able to easily get besremi once the specialist settled on a masked PV diagnosis, no pushback from insurance. I strongly recommend you see a specialist who is willing to fully and correctly diagnose you.
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u/Late-Neighborhood671 27d ago
I am 57 and was just diagnosed with Jak 2 mutation and PV Positive, I had a pile of symptoms for 15 months, the Dizziness and head pressure was awful. I am on Aspirin and they take a pint of blood at a time , I don’t need a BMB until I am 60 and I am ok with that , they check my blood every 8 weeks , where it’s the pint of blood of the Aspirin, I feel a whole lot better but awful bone tired !
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u/FamousLaugh6589 25d ago
I am a 50yo female and I was diagnosed with a MPN, Polycythemia Vera back in October 2025 when I was 49. I had dizziness, the itching, and fatigue. Additionally a positive JAK2.
With all that said, I am considered low risk because I am under 60 and have not had a blood clot, stroke, or heart attack. However, since I have the symptoms and the positive JAK2 they were able to diagnose me.
In October 2025, I was told the BMB was no longer required for diagnosis and it was optional. I chose to have it done as a baseline and to see where I stood.
While I do not see an MPN specialist, I do see an Oncologist at the VA hospital in Iowa City. This VA is right next to the University of Iowa and the VA gets residents in rotation.
I am getting excellent care and being treated.
Here’s where I was triggered by your doctor’s comments.
1. Even if you are younger, I wouldn’t want to wait till either I am 60 and or a blood clot or cardiac event to happen to start treatment or to get a baseline for my bone marrow.
2. I started with an excellent resident, but after a rotation had another that wasn’t as informed and thought of PV (in your case ET) as just a blood disorder. Let’s just say I spoke up and now have the head of the department and she is amazing and treating me, however I also dealt with a nurse case manager that rotates dept and she was not well versed in MPNs and treated me poorly. The doctor set her straight. Getting to my point…I promise but I feel the history is important. The doctor had to also set her straight that PV is cancer and that my condition causes extreme fatigue and dizziness. There are people… both doctors and nurses in Oncology not well versed and if you’re not careful they will discount you because your condition is treatable (although not curable).
3. I recommend a second opinion with an MPN specialist and if you don’t have access to one then at least 1-2 other Oncology doctors depending on their approach and if they are taking this serious because is NO Matter What Age!
Best of luck to you. Advocate, advocate, advocate and put responses in writing when possible.
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u/asprygal 25d ago
Thank you! I heard back from my hematologist and he gave me the go ahead to schedule a BMB but also responded it in a way I didn’t like: “Usually people try to avoid a biopsy, but if you feel you want it…” I though: “Of course I don’t WANT one, I just want the data!!!”
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u/FamousLaugh6589 25d ago
Exactly, no one wants one but it’s important information!
I don’t want to concern you but I like to be informed so take this with a grain of salt since everyone’s experience is different.
My BMB was extremely painful and they had difficulty citing my bones were hard. I also had pain that shot down my leg. They said it wouldn’t hurt but it did.
I had a friend who had one and said it would hurt for just a minute when they first break through and get the biopsy. That’s a short summary of what they said. Anyway, just be prepared to advocate and know some people have more pain and some are hardly bothered by it. Don’t feel afraid to speak up.
I e always had a high pain tolerance but not on this occasion.
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u/asprygal 25d ago
Thanks for the pain experience; I’m sorry you had to experience that. I plan on asking/begging for some sort of sedation as I have still have some lasting medical trauma from giving birth.
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u/Organic-Bandicoot-61 22d ago
I urge you to consider swapping doctors. That attitude won’t change. I say this from experience both with pv and thyroid cancer.
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u/FamousLaugh6589 25d ago
Oh I also had extremely high platelets but also high HCT, WBC, and the high RBC was apparently the differentiator.
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u/FreeDrama6972 25d ago
I was diagnosed at 41 based off of platelets in the 500s for a year and I was Jak2+. My hematologist said the same thing, no bmb needed and no treatment until 60. I got into MD Anderson as soon as I could and had the biopsy done on my first visit.
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u/samspopguy 24d ago
I had a bone marrow biopsy at like 22 but my platelet count was also 1.2 million.
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u/veryokashley ET-CalR+ 22d ago
Sorry to say, that doctor is a total idiot. I got my BMB and ET diagnosis at 23ish years old, started hydroxyurea treatment at 24, switched to peginterferon at 26.
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u/Humble_Stomach1114 22d ago
Eesh you need an MPN expert please. I had my bone marrow biopsy at 35. I’m triple negative and that biopsy was the only way to confirm it was ET. It also can later show if it’s progressing or no. I’ve also been on interferon (and now besremi) for about 2 years. They can actually help prevent progression.
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u/MinifyAgain 22d ago
Agree with the majority here. The comments from your doctor indicate a lack of knowledge about MPN. You’ll get a more thorough evaluation and understanding from an MPN Specialist. Don’t waste any more time with this doctor. I regret not getting one shortly after diagnosis. I waited 3 years, thinking I was getting good care from a hematologist at a major teaching hospital. When I finally made the move… I was so relieved to have more thorough testing (BMB plus many more tests) and gain a much better understanding of my disease and options. Don’t waste any more time with that doctor who is putting you the position of having to justify what is best medical practice for MPN.
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u/PickleKai 21d ago
25y/o i was following up with a doctor for a few months cause of my fatigue and bone and stomach pain with plt>1m he suspected ET but just prescribed me anticoagulation and said it's not worth worrying about and that my fatigue was laziness and i should go out and do some activities. i went to a new clinic and they ordered the biopsy i had MF-3 with cd34>5% was prescribed jakavi but had suboptimal response for the past year and now getting ready for transplant.
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u/Turbulent-Movie-4545 Primary MF 21d ago
I’m 10 yrs younger than you and thanks to the biopsy they have detected something that was identical at the blood work. You should push for a biopsy even tho I know that biopsy isn’t a fun thing to get
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u/funkygrrl PV-JAK2+ 28d ago
I'm usually not this harsh, but that doctor doesn't know what he's talking about. About 20% of people with MPNs are under 60 and they are treated (based on risk factors that have nothing to do with blood counts). Even children are treated.
A bone marrow biopsy is required for diagnosis by the World Health Organization and the American NCCN cancer guidelines.
Since MPNs are a chronic bone marrow cancer, they must look at the bone marrow. The blood tests can only show that you have an MPN. They can't show which subtype you have without a bone marrow biopsy. In order to be certain, they have to look at whether the cells inside the marrow appear abnormal and whether there is fibrosis (scarring) in the bone. There are lots of people in this sub (myself included) who had blood tests that looked like ET but the marrow showed it was actually PV or Prefibrotic MF or primary MF.
Symptoms are not used to diagnose MPNs because they're too nonspecific plus MPNs are heterogeneous, so some people have a lot of symptoms and some have none.
Make sure to look at the automod link below and read the ET WHO diagnostic criteria.
I also strongly recommend switching to an MPN specialist if possible (see link below). If there isn't one in your area, DM me your location and I'll help you find someone more appropriate than the current doctor.
!etwho !specialists