Nino from Berlin - Dx 2015

ASPS patients post updates here, including tales of success :)
D.ap
Senior Member
Posts: 4168
Joined: Fri Jan 18, 2013 11:19 am

Re: Nino from Berlin - Dx 2015

Post by D.ap »

Hello Nino
Good to hear from you and your success!
Thanks for the information on the gene mutation.

Thought I’d share what I saw folks that may be predispositioned to the mutation.



“The UGT1A1*6 mutation is most common in those of East Asian ancestry (15%), and uncommon in people of African (0.1%) and European (1%) ancestry.”

How is the test performed?
Is it a swabbed type test?
Debbie
Ninko
New Member
Posts: 20
Joined: Fri Sep 30, 2022 3:42 am

Re: Nino from Berlin - Dx 2015

Post by Ninko »

Hey Debbie

The mutation my sister has is the UGT1A1*28/*28 instead of the *6 variant, though both are loss-of-function mutations I guess.

For my sister it was a blood test and they sent it to the lab, no idea if there are other ways to test it.
Ninko
New Member
Posts: 20
Joined: Fri Sep 30, 2022 3:42 am

Re: Nino from Berlin - Dx 2015

Post by Ninko »

Hey all,
I just had my scans last week and I am happy to report that despite being off Axitinib since 4 months nothing changed, no new mets or growth (even some regression in the irradiated lung met). So we decided to stay off Axitinib and also start with 6 week intervals for the Pembrolizumab next year.

In the last two scans there has been mention of a small pericardial effusion. My doctor said it could be just the normal pericardium because it is hard to differentiate on the CT, but we will check it in January with an ultrasound exam just to be sure.

Also I have had some problems with rebound acid hypersecretion after weaning off my PPI and have started to take Famotidine before bed time. It should not have as big as an impact on the microbiome like the PPI.

My oncologist also checked again for the UGT1A1 mutation and her colleague said that the one in my tumor is the same as my sister but it most likely is a heterozygous mutation (so I think it would be called UGT1A1*1/*28?) which doesn't impair the enzyme's activity as much as for my sister. So that is why my bilirubin readings were in range all the time. Never the less it still affects medication like Axitinib.

I wish you all happy holidays!
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