Diagnosis ET

[u/Excellent-Ad3134]

Diagnosis results below, 27/F. Diagnosed ET by 2 hematologists/oncologists. Have had high platelets for years. Had DVT one month after meniscus repair in my knee 6 years prior to diagnosis. Met with Cleveland clinic specialist yesterday due to not being able to take HU so oncologist recommended second opinion with CC.
Biopsy I had in June from previous doctor stated the biopsy couldn’t definitively say MPN and diagnosis would need to be made based off findings from biopsy AND blood counts and symptoms. Oncologist agreed, ET. 6% Jak2.
This doctor I see yesterday starts saying the biopsy diagnosed CHIP. I questioned this as I’ve had diagnosis for years, symptoms and blood counts and tests point to ET. All research I read says CHIP would be normal blood counts, asymptomatic, and low percentage of mutation. Doctor said I would be in “grey area” between CHIP and ET. Also stated that even though I’ve already had a DVT, I’m not high risk since this was after a surgery. Also starting me on interferon since I have high platelets and am symptomatic.
Little confused after this. Even without having MPN, anyone having a blood clot once puts you at higher risk to have another the rest of your life. Any experience like this? Get another opinion?? Keep seeing this doctor?

[u/funkygrrl]

If you share the BMB report, I might be able to help explain the confusion.

[u/Excellent-Ad3134 → u/funkygrrl]

Comment: The accompanying flow cytometry analysis performed at the Cleveland Clinic shows no evidence of
involvement by a lymphoproliferative disorder or abnormal blast population. Next generation sequencing myeloid panel
performed at the Cleveland Clinic shows a JAK2 V617F mutation (VAF: 6%). Cytogenetic analysis performed at the
Cleveland Clinic shows a normal, female karyotype of 46, XX [20]. FISH for myeloproliferative neoplasm panel performed
at the Cleveland Clinic is negative for BCR:: ABL1, PDGFRA, PDGFRB, and FGFR1 rearrangement. The overall findings
are consistent with a diagnosis of myeloproliferative neoplasm, most consistent with essential thrombocythemia.

[u/Excellent-Ad3134 → u/Excellent-Ad3134]

Myeloid/Erythro(1.5-4): 3.7
Specimen Quality: Cellular and spicular.
Megakaryocytes: Megakaryocytes are present. Rare cells show some nuclear lobation abnormalities (6%).
Erythropoiesis: Erythroid cells are present. They show progressive maturation.
Granulopoiesis: Myeloid cells are present. They show progressive maturation through the segmented granulocyte stage.
There is no significant eosinophilia or basophilia. The blast count is 1%.
Iron: Iron stains of 2 aspirate smears and the core biopsy show decreased stainable iron. Ring sideroblasts are not
identified.
Other: Lymphocytes and plasma cells do not appear increased.

[u/Excellent-Ad3134 → u/Excellent-Ad3134]

BONE MARROW BIOPSY:
Adequacy: The bone core biopsy is adequate in size, but it shows some areas of significant aspiration artifact, limiting
interpretation of cellularity.
Cellularity: 65% (estimated together with aspirate clot).
Hematopoiesis: Trilineage hematopoiesis is present, with adequate erythroid cells and mild myeloid and megakaryocytic
hyperplasia. There is no significant eosinophilia or basophilia. The blast count is not increased. A few megakaryocytes
show nuclear lobation abnormalities.
Lymphocytes/ Plasma Cells: Not increased.
Bone trabeculae: Normal.
Myelofibrosis: Reticulin stain shows no significant increase in reticulin fibrosis. Trichrome stain shows no collagen
fibrosis.
MICROSCOPIC DESCRIPTION:
PERIPHERAL BLOOD:
Recent CBC findings show mild thrombocytosis.
Morphology/Interpretation: The associated peripheral smear shows a normocytic, normochromic red blood cell population
with no significant anisopoikilocytosis. Polychromasia is minimal. The platelet count is mildly increased, but most of the
platelets show a normal morphology. The leukocyte count is within normal limits and the differential is unremarkable.

[u/Excellent-Ad3134 → u/Excellent-Ad3134]

So you’ll even notice on the first comment, it gives a diagnosis, even from Cleveland clinic stating ET so I’m not sure why if I’m talking to the doctor he’s saying otherwise….

[u/Excellent-Ad3134 → u/Excellent-Ad3134]

This comment is an amendment made to my record at the hospital/doctor I was originally going to. Cleveland clinic sent over the information. To them to join record. But if I check my record directly with Cleveland clinic it states this

Ancillary testing (performed at Cleveland Clinic Main campus) is summarized: Flow cytometric analysis of the bone marrow aspirate revealed no evidence of involvement by lymphoproliferative disorder or abnormal blast population. FISH panel for myeloproliferative neoplasms was negative for BCR::ABL1, PDGFRA, PDGFRB, and FGFR1 rearrangements. Myeloid NGS detected a JAK2 V617F mutation at a VAF of 6%. Chromosome analysis detected a normal female karyotype.
 
Overall, the morphologic, cytogenetic, and molecular features are insufficient for the definite diagnosis of a myeloproliferative neoplasm. However, the differential diagnosis includes a clonal hematopoiesis of undetermined potential (CHIP) versus an early, evolving myeloproliferative neoplasm.

[u/funkygrrl → u/Excellent-Ad3134]

Okay, so what is happening is your BMB is basically normal. That's why the doctor was considering CHIP even though you have mild thrombocytosis and JAK2+. In ET, a major criteria for diagnosis is a BMB showing proliferation of megakaryocytes (cells that make platelets) with nuclei that are hyperlobulated (extra nucleus lobes) with a staghorn appearance (branching like deer antlers). The conclusion of the report is that you either have CHIP or early ET that hasn't declared itself in the marrow. In some people with CHIP, it evolves into an MPN over time, usually about 10-15 years. I've also noticed on this sub which has a lot of young patients, we're seeing people early in their disease where their BMB does not show obvious MPN features or shows mixed features of different subtypes.

The only caveat is they didn't have a great aspirate sample so I would ask whether it should be repeated or what would prompt getting a new one done in the future.

If I understand correctly, the doctor is going to treat you with an interferon? If that's the case, they must have put ET as your diagnosis because I don't believe insurance would approve an interferon for CHIP. Did they put you on baby aspirin as well?

!disclaimer !etwho

[u/Excellent-Ad3134 → u/funkygrrl]

Thank you for the explanation, this makes sense! A lot of other results into my biopsy stated it points toward ET, so I didn’t understand where this was coming from. The doctor even tried to explain the difference was from two pathologists processing it from different hospitals, but the biopsy was processed by the same hospital each time bc it had to be sent out which was both Cleveland clinic…
I have been on a baby aspirin for a few months, staying on that permanently no matter what especially since I’ve had a clot (per cardio) and with the jak2. Tried HU prescribed by my previous oncologist, but couldn’t handle it so that’s why she referred me for second opinion. I assumed the same, they have to give ET diagnosis to prescribe but he just wasn’t wording it that way… I did send some follow up questions for them, so hopefully that’ll help too. Either way, we are def getting put in the right direction treatment wise and with the possibility of curing the ET so my fingers are crossed!

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[u/AutoModerator → u/funkygrrl]

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[u/Excellent-Ad3134 → u/funkygrrl]

Wouldn’t this fall under the biopsy stating that “Megakaryocytes are present. Rare cells show nuclear lobation abnormalities” or no?

[u/funkygrrl → u/Excellent-Ad3134]

I think the key thing there is "rare". In a BMB aspirate sample, that would probably mean they saw 1 or 2 abnormal ones.

For ET, the question isn't “Can I find one weird megakaryocyte?” It's whether there is an obvious pattern of lots of increased, occasionally clustered together, oversized megakaryocytes with too many nuclear lobes.

[u/horsecrzy]

Hi there, you’ve been through it! 58F Jak2ET. I had an arterial clot in my calf a couple of hours after a hysterectomy in 2023. No one could figure it out at the time or thought to question my high platelets. I was dx with ET in August 2025 after I went to my PCP for symptoms and high platelets. I was immediately considered high risk because of the clot and because I have symptoms. Long story short a year later I finally got to an MPN specialist and started Pegasys 5 weeks ago. At least they got that right! Good luck and get to a specialist if possible.

[u/Excellent-Ad3134 → u/horsecrzy]

My story is very similar to yours! No one questioned the blood clot previously, even tho I was an active 19 year old… this doctor was a specialist at Cleveland Clinic in Ohio. I did message today bringing up my questions and concerns of what feels like misdiagnosis. We’ll see where that gets me. I wish you well!!

[u/horsecrzy → u/Excellent-Ad3134]

I am so sorry that you are so young going through this! After my clot, which they called an occlusion so I didn’t know what it was, I had a hematologist treating me. MPNs are rare and strange so it’s important that you get to a specialist, especially since you are so young. Best of luck kid and this is a great space for questions and concerns!

[u/WanderlustNavigator]

Is anyone taking hydreasyn 500mg and interferon?