Genomic testing for stage IV
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My onc orders NGS, aka genomic testing of tumor and/or liquid biopsy when there is progression and we need to choose the next treatment. Foundation One on tissue from biopsy, and Guardant 360 liquid biopsy. The liquid biopsy looks at tumor cells in the blood, which seems not as sensitive but can be useful if they can't get a tissue biopsy. I can think of several tumor mutations that might point toward a treatment or a trial, but I do not know which are or are not available to you.
PIK3CA > alpelisib/Piqray
ERBB2 > neratinib THIS MUTATION IS MORE COMMON IN ILC.
BRCA and related> PARP inhibitor Lynparza/olaparib etc.
ESR1> For anti-estrogen use Faslodex because cancer likely resistant aromatase inhibitor
Also, you might want to look at trials in order to access particular drugs.
Please note that tumors can develop BRCA and related mutations, even if the person does not have a hereditary BRCA mutation, is not BRCA-positive. Also note that an ERBB2 mutation (aka Her2 mutation) is not the same as Her2 amplification, Her2 positive. It cannot be found on the usual pathology testing, only the NGS/tumor genomic testing.
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Hi Shetlandpony
Thank you very much for this additional info, it's really helpful. I've decided to go private and get the testing done privately as my NHS declined it. At least then I know I've checked it.
Thanks
Take care
X
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Hamer, do you have an oncologist who will give you an honest opinion about testing, setting aside the question of NHS vs private?
Since your current treatment is working, it might be more useful to spend the money on the NGS when it comes time to switch treatments because of progression, because the results may identify "actionable mutations" in the cancer and suggest treatments and clinical trials, as well as saying what treatments may not work.
As far as genetic testing for inherited cancer susceptibility, that is certainly appropriate given your young age. That testing (hopefully a panel of cancer genes, not just BRCA) may turn up no known mutation, or it may find something that can inform you and any affected relatives what other screening or prevention measures should be considered (for breast and other cancers). A cancer genetics counselor can help you decide whether you want to do this.
Quick question, do you have ILC? Because the UK has a trial just for metastatic ILC.
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Hi, everyone. I found this thread through a search on the forums. Currently talking with the MO about genomic testing. I saw on the forums that Tempus, FoundationOne and Caris are most used. Do you know which of them has the most comprehensive testing for gene mutations? Information on Tempus website says it's a 648 gene panel and FoundationOne says 324 genes. Not sure about Caris - did not find a specific list on their website.
On Page 3 of this thread, phet7178 said Caris test needs a lot of tissues. Did anyone encounter a similar issue? The tissues from core needle biopsy have gone through the original IHC test, the HER2 FISH test and an additional Ki-67 test. The Ki-67 test was not tested at biopsy but ordered by the MO later, so another path slide had to be made for that test. Also a HER2 FISH test was separately performed - not sure why because the original IHC says HER2 negative, not equivocal, but there went another slide. So I'm also concerned if there are enough tissues left.
Any advice is greatly appreciated. Thank you!
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Ivla, how far out form Stage 4 dx is this & how old/where from are these biopsy samples? Because I think I'd want a fresh sample for genomic testing. one of the issues with metastatic presentation is that the metastases evolve different gene patterns than the primary tumor/initial met. So if you're trying to catch a new somatic mutation, it's more likely to show in a new met
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Hi, Moth. Thanks for your reply. This is for my mom. She was diagnosed of ILC (6cm tumor with chest wall/skin involvement) a month ago, so the tissues were obtained from the primary tumor by core needle biopsy at that time. As described above, it seems the tissues were sliced at least 3 times already. So I'm concerned if there are adequate samples left. The MOs think de novo stage 4 with high tumor markers and uptakes shown on bone scan. Waiting on additional imaging tests and probably a bone biopsy. Meanwhile the current MO is talking about genomic testing. If there is a more appropriate forum/thread to post my question, please let me know. Thank you!
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Ivla, there are also liquid biopsy tests, done from blood samples. I didn't have enough tissue from my bone biopsy for a tissue-based genomic test in July 2021, so my MO ran a Guardant360 test on blood. It picked up a couple of mutations.
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Hope there's enough tissue left. They really don't need much. Or maybe aa mentioned, a blood biopsy might be arranged. Is your insurance going to cover it?
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here's a study about the utility on NGS
"NGS testing for advanced breast and gynecologic cancers at our institution has a 38% clinical action rate. However, the increased clinical action rate over the years did not translate into improved survival"
https://pubmed.ncbi.nlm.nih.gov/33728425/#:~:text=Results: The 108 specimens tested,(30 of 79 cases)
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Moth and AnnTop, thank you for the replies.
AnnTop, which NGS was your test sent to? The current MO just said they would arrange to obtain the tissues/slides from the original pathology lab and send out for testing. They didn't specifically say which NGS company - perhaps FoundationOne. But it seems Tempus has a more comprehensive gene panel?
Moth, I don't know if insurance is going to cover the testing. Haven't heard from the MO's office about next steps for the testing yet. I think I need to ask where they are sending it to.
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Wanted to share this MD Anderson paper: https://www.hematologyandoncology.net/files/2019/0... It's from 2019 but gave a general overview.
"The characteristics of some of the more commonly utilized platforms are displayed in Table 1. These platforms vary in number of genes assessed and types of mutations detected, as well as the amount and type of tissue utilized for analysis. Most platforms, including FoundationOne CDx (Foundation Medicine) and Caris CDx (Caris Life Sciences), analyze only the tumor tissue and include copy number variants, gene fusions, microsatellite genes, and tumor mutation burden as part of their analysis. Other platforms, such as TempusXT (Tempus), have developed tumor-vs-normal sequencing assays in which both tumor and nontumor genetics are compared for differences. Yet other platforms, such as Guardant360 (Guardant), have implemented liquid biopsy by analyzing the genetics of tumor cells in circulating plasma."
The comparison table in this 2019 paper shows Carris has both DNA sequencing and RNA sequencing, and FoundationOne and Tempus only has DNA sequencing. But based on their website, FoundationOne and Tempus seem to do RNA as well now.
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As far as insurance. In the USA. I would not worry. If you check the NGS companies’ web sites you will find they offer assistance. And you don’t end up paying thousands of dollars.
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Ivla asked, "AnnTop, which NGS was your test sent to?" My liquid biopsy genomics test was sent to Guardant360.
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ShetlandPony, yes we are in the U.S. So hopefully it would work out with the insurance or the out-of-pocket cost is not too bad.
AnnTop, I guess I misunderstood your last post that the tissue sample was sent somewhere it's considered not enough for a tissue-based genomic test. Thanks for the clarification.
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