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Do JAK2 Overlap Myeloproliferative/myelodysplastic Disorder, Monoclonal B-cell Lymphocytosis, And Monoclonal Gammopathy Have A Generic Disposition?

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Posted on Mon, 26 Feb 2024
Question: Dear Doctor, An elderly family member was diagnosed a few years ago with (1) JAK2 overlap myeloproliferative/myelodysplastic disorder, (2) monoclonal b-cell lymphocytosis, and (3) monoclonal gammopathy. His brother died about 10 years ago from leukaemia (although we don't know what type of leukaemia it was). Could you please tell me whether there is evidence that ANY of these conditions have a genetic predisposition or are they more likely to be "random"? I am particularly interested in the JAK2 gene, but my interest in genetic predispositions definitely concerns all three conditions.
If there is evidence of a genetic predisposition for any of these conditions, I would very much appreciate it if you could nominate one or two articles in internationally reputable medical journals that I could read. I appreciate that medical articles are often highly technical, but I may still to able to comprehend the gist of them. The entire family would like to know more about any genetic predispositions that we may have short of being genetically tested.
doctor
Answered by Dr. Diptanshu Das (1 hour later)
Brief Answer:
Direct association present for all three conditions

Detailed Answer:

Hi,

I have gone through your query and understand your concerns. JAK2 is an important gene that is responsible for a signalling protein related to growth and proliferation of cells. Details can be found at https://ghr.nlm.nih.gov/gene/JAK2 (also includes details of the conditions associated).

JAK2 overlap myeloproliferative/myelodysplastic disorder has direct association. The association of the other two conditions too is rather possible. Monoclonal gammopathy is a condition in which an abnormal immunoglobin protein is produced in excess. Needless to say that the defective gene product can be produced in excess and remain unutilised to produce the second and third condition.

Feel free to go through:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC0000/
https://hrcak.srce.hr/file/188690
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC0000/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC0000/

Feel free to write back.

Regards




Above answer was peer-reviewed by : Dr. Remy Koshy
doctor
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Follow up: Dr. Diptanshu Das (4 hours later)
Thank you Dr. Diptanshu for your very informative and helpful response. I don't know whether it makes any difference but the JAK2 gene that I mentioned is the JAK2 positive gene.

Dear Dr. Diptanshu XXXXXXX I have only one more question to ask you. Is "lymphoproliferative" another term for "myeloproliferative"? That is, are they the same thing?
doctor
Answered by Dr. Diptanshu Das (9 hours later)
Brief Answer:
Two different cell lines

Detailed Answer:
JAK2 positive gene means that the it has been tested positive for the JAK2 gene. It is the same thing. Lymphoproliferative and myeloproliferative are not the same thing. They refer to the proliferation of two different cell lines, both of which originate from the bone marrow.

Regards
Note: For detailed guidance on genetic screening consult a genetics specialist

Above answer was peer-reviewed by : Dr. Raju A.T
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Answered by
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Dr. Diptanshu Das

Pediatrician

Practicing since :2005

Answered : 3877 Questions

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Do JAK2 Overlap Myeloproliferative/myelodysplastic Disorder, Monoclonal B-cell Lymphocytosis, And Monoclonal Gammopathy Have A Generic Disposition?

Brief Answer: Direct association present for all three conditions Detailed Answer: Hi, I have gone through your query and understand your concerns. JAK2 is an important gene that is responsible for a signalling protein related to growth and proliferation of cells. Details can be found at https://ghr.nlm.nih.gov/gene/JAK2 (also includes details of the conditions associated). JAK2 overlap myeloproliferative/myelodysplastic disorder has direct association. The association of the other two conditions too is rather possible. Monoclonal gammopathy is a condition in which an abnormal immunoglobin protein is produced in excess. Needless to say that the defective gene product can be produced in excess and remain unutilised to produce the second and third condition. Feel free to go through: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC0000/ https://hrcak.srce.hr/file/188690 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC0000/ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC0000/ Feel free to write back. Regards