genetic karyotyping and attending MPN London

[artydutch]

Hi All, I saw my haematologist yesterday for the results of the karyotyping genetics. I have not had a copy of the report yet, but verbally he told me that there was an issue with no 9 and 20. Apparently this is a favourable result. To me this is a foreign language and would appreciate anyone who can explain this. Of course when i get a copy I will upload the the report.On a different note, I have registered for the MPN London conference. I registered for MF, but registered my husband for family and friends. Does that mean we are separate. Was not sure what category to register him under. Should I register him under MF too? Anyone going? We are 67 and 71.

[EPguy]

This report has discussion of the 9 and 20 in context of MF:

"we confirmed the favorable (sole 20q−, 13q−, +9 abnormalities) and unfavorable (+8 and complex karyotype) "

nature.com/articles/s41375-...

So you may have these findings. They say this result is "‘favorable’—normal karyotype or sole abnormalities of 13q−, +9, 20q−" So this is same as having no abnormal chromosomes as I read it.

[Mazcd Partner MPNVoice]

hi artydutch, with regards to the groups at the living with MPNs day, the friends and family group is a separate group for those family members to have the opportunity to chat to other family members to share their experiences of supporting someone with a MPN, and to get advice and support. Your husband doesn't have to go into the group if he doesn't want to, it is up to him, he can go into the MF group with you if he wants to. Best wishes, Maz

[Joetcalr in reply to Mazcd]

Hi Maz, my heart sank a little when I read that family and friends can go in to the groups alongside people with MPNs, I’ve had that experience at a forum before and there can be so many family and friends and they just take over.

Would it be possible to also have groups that are solely for the individual MPNs as well? For myself I’d much rather be in a small group with just people who also have my MPN, one of my purposes in going is to talk to other people who have the same as me. Thanks Jo

[Mazcd Partner MPNVoice in reply to Joetcalr]

hi Joetcalr, we always have 4 separate groups at the in-person forums and the living with MPNs days, the breakout groups are one group for each MPN, so we have 4 groups, one for people with ET, one for people with PV, one for people with MF, and one for family and friends. However, if family/friends want to go into the group with the person they are attending with, they can, the choice is theirs. We don’t make it a requirement that they have to go in the family group. Maz

[Joetcalr in reply to Mazcd]

Hi Maz, I get the impression this is a very big event, would it be possible to have smaller groups? Jo

[Mazcd Partner MPNVoice in reply to Joetcalr]

hi Jo, yes it is a big event, we only hold it every other year, it is our showcase event, but we do hold smaller forums around the UK and Ireland every year, we held one yesterday in Chester, and have one in Newcastle-upon-Tyne on 14 Oct and Cardiff on 1 Dec mpnvoice.org.uk/category/ge...

We will be holding more forums next year as well. Maz

[artydutch in reply to Mazcd]

thanks for clearing this up. We can see on the day where he feels it is most appropriate to join in. Any idea of parking for disabled at the venue?

Is there a programme advertised yet?

Thanks for your help.

[Mazcd Partner MPNVoice in reply to artydutch]

we will be publishing the programme in the next few days, it will be put on our website and on the Hartley Taylor website, where you registered to attend. With regards to parking, the details for travel including parking are also available on the Hartley Taylor website, follow this link and you will see details for car parks and blue badge holders hartleytaylor.co.uk/pat1-ve...

Maz

[Wyebird]

no family and friends is correct for forum. It’s really good unfortunately I can’t go.as for the karyotyping I’ve never heard of it. Time to contact Mr Google again

[EPguy in reply to Wyebird]

I had a hard time figuring it out on searches. I spent a lot of time on it, best I can figure Karyotyping looks for missing, extra, or misplaced genes. But the genes are not necessarily defective internally. If we get genetic tests it usually includes this. I had an abnormal result here, but not related to hematology.

In contrast alleles like Jak2 v617f have Jak2 right where it belongs but the Jak2 has mutated (defective) internal structures. For Jak2 in MPN it's "valine-to-phenylalanine substitution at position 617" (Ph was replaced by F for a shorter word)

Above is of course simplified and members are welcome to comment.

[Wyebird in reply to EPguy]

wow lol I’ve read enough I looked it up too I’ll leave it to the experts. 😆

[EPguy in reply to Wyebird]

In the extra simple version, as I get it,

1-Karyotyping test looks for where the genes are (or aren't),

2-Allele test looks for whether the gene is defective (mutated).

So Karyotype is -where- and can find a perfectly normal gene that's in the wrong place, or missing entirely, while allele test is -quality- looking for whether the gene is mutated.

[artydutch in reply to EPguy]

thank you so much for all your efforts on my behalf. At a simplistic level there are favourable and unfavourable genes in karyotyping. I am always curious, but happy to be in the favourable group with 9 and 20, after a fair few unfavourable tests this year. Will ask at the conference.