MPN Myeloproliferative Neoplasm article New classifications of MPN diagnostics Polycythemia Vera ET

#Polycythemiavera #MPN #genemutations

Clarifying the MPN Myeloproliferative Neoplasm article New classifications of MPN diagnostics Polycythemia Vera

Clarifying the MPN subgroup
Hi, everyone, I made a quick video to clarify where to see the 8 Subgroups that are mentioned in the article I posted earlier. I hope this helps.

A wonderful #MPN #myeloproliferativeneoplasm article about the 8 Subgroups! The title is so promising!
“New classifications of MPN mean better diagnostics and more definitive prognoses”
I broke it down so we can see where the subgroups are stated.
He is detailed and it is a bit of a difficult read.
The article will definitely give us some questions to ask our doctor or research. This is just wonderful to see his breakdown.
Bless him and his Team!!!
I wish you all health, happiness and a cure!!!
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Articles referred to in this video:

New classifications of MPN mean better diagnostics and more definitive prognoses

Classification and Personalized Prognosis in Myeloproliferative Neoplasms
Jacob Grinfeld, M.B., Ch.B., Jyoti Nangalia, Ph.D., E. Joanna Baxter, Ph.D., David C. Wedge, Ph.D., Nicos Angelopoulos, Ph.D., Robert Cantrill, Ph.D., Anna L. Godfrey, Ph.D., Elli Papaemmanuil, Ph.D., Gunes Gundem, Ph.D., Cathy MacLean, M.Sc., 
Julia Cook, B.Sc., Laura O’Neil, B.Sc., et al.

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[ianlogan]

Here are some other interesting papers:

This paper has just appeared:
'Retrospective analysis of the clinical features of 172 patients
with BCR-ABL1-negative chronic myeloproliferative neoplasms'
Xiaolan Lin, Huifang Huang and Ping Chen

A free download at:

This is another paper that looks at PV and JAK2V617F;
and reports that 91.3% of their 80 patients showed the mutation.
However, their testing was only 'qualitative';
and the size of each JAK2V617F clone was not estimated.

This paper is yet another one that would suggest the presence
of the JAK2V617F mutation should NOT, in itself, be classed
as a 'driver mutation' for neoplasms.


Note that this other and much larger study
also does not consider JAK2V617F important as a cause of cancer.

'Pan-cancer analysis of whole genomes'
ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium.

A free download at:

So the scientific argument continues ...

Ian

[ianlogan]

An interesting paper looking at the difficulties in
measuring the JKA2 V617F load in PV.

The paper is:
'Superiority of Droplet Digital PCR Over Real-Time
Quantitative PCR for JAK2 V617F Allele Mutational
Burden Assessment in Myeloproliferative Neoplasms:
A Retrospective Study'
Francesco La Rocca, et al.

Abstract: JAK2 V617F mutational status is an essential diagnostic index in myeloproliferative
neoplasms (MPNs). Although widely used for detection of JAK2 V617F mutation in peripheral blood
(PB), sensitive real-time quantitative PCR (qPCR) presents some methodological limitations. Recently,
emerging alternative technologies, like digital droplet PCR (ddPCR), have been reported to overcome
some of qPCR’s technical drawbacks. The purpose of this study was to compare the diagnostic utility
of ddPCR to qPCR for JAK2 V617F detection and quantification in samples from MPNs patients.
Sensitivity and specificity of qPCR and ddPCR in the detection of the mutation were assessed by
using a calibrator panel of mutated DNA on 195 JAK2 positive MPN samples. Based on our results,
ddPCR proved to be a suitable, precise, and sensitive method for detection and quantification of the
JAK2 V617F mutation.


This is not a paper that many people will want to read in detail, but it does show
the difficulties in measuring the size of the 'JAK2 clone' in people with PV & ET;
and may explain how different laboratories appear to give conflicting results.

However, every research project that adds a little bit to our knowledge is helpful ...

Ian