The Role of New Technologies in Myeloproliferative Neoplasms

[hunter5582]

I was reviewing some of the items in my bookmarked resources and came across this article from 2019. It was worth a reread. The article is a literature review and has some very interesting references regarding various issues related to MPNs, including information about the three driver mutations. Interesting to see references to atypical JAK2 mutations (JAK2v626f, JAK2v556v) and other atypical driver mutations. Sources are cited to dig deeper into topics of interest.

The information about the different types of genetic testing is interesting and relevant to how we think about monitoring the status of MPNs. The article overs Real Time PCR, Sanger Sequencing, Digital PCR, and NGS. The attached chart has a brief synopsis.

frontiersin.org/articles/10...

[Bluetop]

Thanks for posting. I had wondered what the relationship was between the other mutations and triggering the reactions. Without trying to follow the detail at the moment, this does answer that question.

[saltmarsh]

Hunter. As always, many thanks for the information. You have really helped me as well as others on this forum. Keep up the good work and continued progress on our shared journey. Saltmarsh.

[Mostew]

Thanks . Will have a read later

[TLJ-1]

Here's a table from a slightly newer review [Mikic, Int. J. Mol. Sci., 22, 3371 (2021)] citing improved sensitivity. References are given if you care to follow-up. Again, the multitude of mutations is becoming clearly evident. However, most are irrelevant to either normal or pathological function.

Table 1

[hunter5582 in reply to TLJ-1]

Thanks for posting the newer chart. Greater understanding of the types of genetic testing available is very helpful. I think over time the more thorough forms of testing may help us understand the role of non-driver mutations as well as the atypical mutations. Perhaps some currently diagnosed as triple-negative will find the mutation responsible for their variant of the MPN.