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pennyhedgecoth (@pennyhedgecoth)

JAK2 ASXL1 Mutations: Anyone else?

Blood Cancers & Disorders | Last Active: Nov 24, 2021 | Replies (16)

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@fjscarpa

Hi @pennyhedgecoth,

I hope you and your husband are doing well! I'm a scientist at a diagnostic/cancer reference laboratory and have researched ASXL1 for several years. I would be more than happy to assist you and answer any questions that you have if you still have them. However, I need to ask you some very important questions first.

1) What is the mutation that your husband has in ASXL1? I understand that he has a JAK2 V617F, which is typical for an MPN. However, not all ASXL1 mutations are the same. I need to know the exact amino acid (617 in the case of JAK2) as well as the type (e.g. frameshift, nonsense, missense, etc.). This should be listed on his NGS/pathology report. You'll see these listed as "c." and "p." Please give me both of these.

2) What is the allele frequency of these two mutations? This should be in the form of a %, such as 5%, 50%, 90%, etc. This will also be on the report.

3) Has he had repeat testing done? If so, please let me know if these mutations were still present and if the allele frequency changed.

Please also note that these NGS test results by themselves are not diagnostic of AML. Just because he has a mutation in ASXL1 doesn't mean he has AML.

Best,
Frank

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Replies to "Hi @pennyhedgecoth, I hope you and your husband are doing well! I'm a scientist at a..."

It doesn’t say much about the JAK2 exon 12-15 mutation
I’ve attached the reports to this, I hope you can read it

On the ASXL1 c is 1720 p has a question mark
ASXL1 41%
Jak2 13%
Jak2 c is 1849 p is the VAL617
I hope this is what you were asking for
So sorry it took so long

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