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 is 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 normal at that time, than CML less likely.
2. JAK2 gene mutation positivity is seen in myeloproliferative neoplasm, especially polycythemia vera and essential thrombocythemia myeloid blood cancer usually. Your platelet count are elevated. Hence elevated platelets along with positive JAK2 gene mutation is 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 be normal at that time before ten years, probably as per my assumption.
4. In a normal individual, BCR ABL mutation is not seen.
5. Pressure headache seems most likely due to anxiety-like tension headache because it gets relieved by Lorazepam, which is anti-anxiety medicine. However, there is a slight possibility of headaches due to ET (essential thrombocythemia) as well.

In short, according to the provided history, it could be essential thrombocythemia most likely and not CML.

However, in my opinion, you should investigate further with bone marrow biopsy and physical examination, especially liver and spleen palpation, for confirmation of essential thrombocythemia. You can attach all reports and 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.

Best regards.

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 get enlarged usually. If the headache is due to PV (polycythemia vera) or ET, then low dose baby Aspirin might help, and there is no risk in taking it. However, you should consult a hematologist for physical examination and bone marrow. Although your CBC report is normal, as JAK 2 (Janus kinase) 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 ET (essential thrombocythemia) or PV if present. I hope I have answered your question. Let me know if I can assist you further.

Best regards.

Hello, Welcome back. I can understand your concern and following is my answer for your follow up question. In attached reports, platelets study test are not understandable as they are not in English language. However I have checked CBC report. So, as we have discussed previously platelets count are high and jak2 positive as per history. Therefore, essential thrombocythemia can be possible for which bone marrow biopsy needed. Polycythemia vera is very unlikely as HB, PCV and RBC are within range. I am also not suspecting polycythemia vera. You are right in that way. In my previous answer as well I have written that PV is less likely. But ET chances are more. Hope I have answered your question. Let me know if you have more questions in mind. Best Regards