Triple-Negative Polycythemia Vera with MF-1 – Looking for Similar Case

Posted by iurefranca @iurefranca, Jun 1 8:08pm

Hello everyone,

I would like to share my case and connect with anyone who may have a similar diagnosis or experience.

I am a 33-year-old male diagnosed with Polycythemia Vera (PV) with some unusual findings.

My symptoms have included:

* Night sweats
* Dizziness/lightheadedness
* Tinnitus
* Fatigue
* Episodes of general malaise

My main findings include:

* Persistent erythrocytosis
* JAK2 V617F negative
* CALR negative
* MPL negative
* BCR-ABL1 negative
* Bone marrow biopsy (2023): erythroid hyperplasia and grade 1 myelofibrosis (MF-1)
* Repeat bone marrow biopsy (2026): hypocellular bone marrow (~40% cellularity), persistent MF-1, and mild dysmegakaryopoiesis
* Flow cytometry without evidence of an abnormal clonal population
* No significant splenomegaly on imaging studies

I am currently being treated with ruxolitinib (Jakavi) and have experienced significant improvement in my symptoms. I have also undergone therapeutic phlebotomies.

I am now investigating the possibility of a triple-negative Polycythemia Vera or another triple-negative myeloproliferative neoplasm, and I am considering a broad myeloid NGS panel to look for additional mutations such as DNMT3A, TET2, ASXL1, and others.

Has anyone here been diagnosed with:

* Triple-negative Polycythemia Vera?
* A triple-negative myeloproliferative neoplasm?
* MF-1 associated with PV?
* Similar bone marrow findings?

I would greatly appreciate hearing about your experience, diagnostic journey, molecular findings, or any relevant literature you may be aware of.

Thank you for taking the time to read my story.

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kasey78 | @kasey78 | Jun 1 10:10pm

I haven’t been diagnose with anything yet. My first appointment is next week hopefully I will have answers. 47yr only abnormal lab is thrombocytopenia.
January- bone marrow increased atypical megakaryoctes, mild to moderate fibrosis mf 1-2 , triple negative . No splenomegaly
However now enlarged spleen ( very uncomfortable) and I think my liver might be enlarged too. Hoping to get answers and relief.

eloise999 | @eloise999 | Jun 2 7:07am

I am triple neg. ET. I had NGS panel. My main mutation was ASXL1. Similar bodily symptoms pre treatment but without fatigue. I have one other mutation that is novel. Doctors do not opine on its role. Low level fibrosis. Blurry vision and dry eyes, mouth. I have a Sjögren’s diagnosis now, but I do not have the Sjogrens biomarkers. Get a broader panel if you can.

iurefranca | @iurefranca | Jun 2 2:04pm

In reply to @kasey78 "I haven’t been diagnose with anything yet. My first appointment is next week hopefully I will..." + (show)

@kasey78 My diagnosis took almost six months because several physicians were unsure how to proceed and seemed completely lost. One doctor even suggested that I was looking for a disease, despite my blood counts being significantly elevated.
Eventually, I found a hematologist who was experienced with myeloproliferative neoplasms. I traveled about one hour by plane to see her, and she was able to establish the diagnosis.
Regarding my spleen, it is currently normal in size, but I should mention that I am being treated with ruxolitinib (Jakavi), which can reduce spleen enlargement.
Please keep us updated on your progress. I sincerely hope you are able to find knowledgeable specialists who can help you reach a diagnosis and receive the appropriate treatment.

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iurefranca | @iurefranca | Jun 2 2:11pm

In reply to @eloise999 "I am triple neg. ET. I had NGS panel. My main mutation was ASXL1. Similar bodily..." + (show)

@eloise999 Hi Eloise, I have many of these symptoms as well and use lip balm daily because of the dryness. I also started wearing glasses to help with some of my vision-related symptoms.
At the moment, I am waiting for my health insurance to approve a myeloid NGS panel, since these tests are very expensive where I live.
How many genes were included in your panel? Here, the largest panel available covers up to 92 genes.
Regarding the ASXL1 mutation, have your doctors commented on its significance in your case or provided any specific recommendations based on that finding?
Wishing you all the best, and I hope you continue to get answers.

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kasey78 | @kasey78 | Jun 2 3:36pm

In reply to @iurefranca "@kasey78 My diagnosis took almost six months because several physicians were unsure how to proceed and..." + (show)

@iurefranca
Thank you so much I appreciate that and I pray you continue to have relief. I will keep y'all updated.

eloise999 | @eloise999 | Jun 2 5:16pm

In reply to @iurefranca "@eloise999 Hi Eloise, I have many of these symptoms as well and use lip balm daily..." + (show)

@iurefranca it looks like 53 genes were screened for? At least 53 were listed on my lab report. My doctor thinks I have the ASXL1 mutation because I had CHIP and it developed into ET. CHIP is not extremely rare, especially in older people, but it does not usually transform. I also saw a Dr. at Mayo about my diagnosis. He thinks the ASXL1 is part of my ET, but it is not recognized as a driver at this time.

eloise999 | @eloise999 | Jun 3 8:54am

Triple negative PV would be very unusual. 95% PV patients have the JAK 2 mutation. Your case is very rare you might want to get a second and even third opinion from MPNnspecialists.

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