I have a very high platelet count and JAK2 gene mutation. Does this rule out CML?

Hello,

Welcome to icliniq.com.

I can understand your concern. Do not worry. I will try to answer all of your questions. Following are my answers and opinion to your questions.

1. RT-PCR (reverse transcriptase-polymerase chain reaction) is a highly accurate test to check BCR-ABL mutation to rule out CML (chronic myeloid leukemia). So your one positive BCR-ABL report could be a false positive report. Your other report was negative. If CBC (complete blood count) and peripheral smear are normal at that time, then CML is less likely.
2. JAK2 gene mutation positivity is seen in myeloproliferative neoplasm, especially polycythemia vera and essential thrombocythemia myeloid blood cancer. Your platelet count is elevated. Hence, elevated platelets along with a positive JAK2 gene mutation are suggestive of essential thrombocythemia. It is not positive in CML.
3. The chance of CML for ten years is less likely. Because in that duration, you might have cancer progression symptoms, especially weight loss, chronic fatigue, enlarged liver, spleen, etc. CML was detected in CBC and PS as well. So your CBC and PS might have been normal at that time before ten years ago, probably as per my assumption.
4. In a normal individual, the BCR-ABL mutation is not seen.
5. A pressure headache seems most likely due to an anxiety-like tension headache because it gets relieved by Lorazepam, which is an anti-anxiety medicine. However, there is a slight possibility of headaches due to ET (essential thrombocythemia) as well.

According to the provided history, it is most likely essential thrombocythemia and not CML.

However, in my opinion, you should investigate further with a bone marrow biopsy and physical examination, especially liver and spleen palpation, for confirmation of essential thrombocythemia. You can attach all reports and the bone marrow biopsy report once done to comment further. I hope I have answered your questions. Let me know if I can assist you also.

Thank you.

Hello,

Welcome back to icliniq.com.

Following is my other answer to your asked question. You are right. In myeloproliferative neoplasm, the liver and spleen usually get enlarged. If the headache is due to polycythemia vera or essential thrombocythemia, then low-dose baby Aspirin might help, and there is no risk in taking it. However, you should consult a hematologist for a physical examination and bone marrow test. Although your complete blood count report is normal, as Janus kinase 2 (JAK2) is positive, it is better to consult a good hematologist for your physical examination and discuss the need for a bone marrow biopsy report for further work-up. Bone marrow biopsy will rule out essential thrombocythemia or polycythemia vera if present. I hope I have answered your question. Let me know if I can assist you further.

Thank you.

Hello,

Welcome back to icliniq.com.

I can understand your concern, and the following is my answer to your follow-up question.

In the attached reports, the platelet study test is not understandable as it is not in English language. However, I have checked the complete blood count report. As we discussed previously, the platelet count is high, and Janus kinase 2 (JAK2) is positive as per history.

Therefore, essential thrombocythemia is possible, for which a bone marrow biopsy is needed. Polycythemia vera is very unlikely, as hemoglobin, packed cell volume, and red blood cells are within the normal range. I am also not suspecting polycythemia vera, and you are right in that way. In my previous answer as well, I have mentioned that polycythemia vera is less likely, but the chances of essential thrombocythemia are higher.

I hope I have answered your question. Let me know if you have more questions in mind.

Thank you.