We requested genome sequencing done on the biopsy samples
The Tumor genomics were an- Oncomine targeted panel with
Tier 2 variants in p53 and CDH1
Tier 3 in DNMT3A, HRAS, WT1.
What does tier mean?
Is there a tier 1?
And what does it mean that there are no mutations in tier 1?
Not sure about the tiers, but any mutation to p53 is not good.It is a repair gene.
It does indicate that BAT therapy will work for you though.
I found this below
Tier 1 clinically significant
Tier 2 somewhat clinically significant
ncbi.nlm.nih.gov/pmc/articl...
About BAT, we asked our MO about it and he said it doesn’t work…he is at a cancer center teaching hospital of excellence, we were surprised at the response he had
Read Above Tall_Allen
Not clear to me how they assign levels of clinical significance, when they are just learning about them.
Hi has my prostate removed and had another round of Germline mainly Genomics testing done…
I have been bleeding since July from rectum. MO refuses to do pet scan and gastroenterologist is doing another scan to see if it’s diverticulitis, no bacteria found in stool test, given an antibiotic as it may of been an infection and gastroenterologist wants to hold off for now on an endoscopy and colonoscopy as the procedure could cause a perforation, cause more complications or God Forbid a bleed out.
I’m scared out of mind
In reference to the mutations and reading about Neuroendocrine cancer, since I have been on Firmagon and Zytiga with Prednisone since 07/2022 .
I’m worried.
I also had a CHA test
Component Your Value
Chromogranin A 117 ng/mL
0 - 103 ng/mL H standard
I was flagged as H
My Carcinoembryonic Antigen <0.5 ng/mL
<=3.0 ng/mL
Non-Smoker: <= 3.0
Smoker: <= 5.0
Was Very low
My LDH was Component Your Value Standard Range Flag
Lactate Dehydrogenase 168.0 U/L
118.0 - 230.0
As of February 2017, this test is performed on the Siemens Centaur using Chemiluminescent Immunoassay. Values obtained with different assay methods or kits cannot be used interchangeably. The results cannot be interpreted as absolute evidence of the presence or absence of malignant disease.
Germline genetics - After discussion of his personal as well as family history of cancer, discussed option of referral to specialist versus testing via a commercial platform. Underwent testing with the Invitae platform which revealed a pathogenic mutation in BLM. Discussed both personal as well as family implications. Discussed genetic counseling available through the company, at our institution, or elsewhere. Provided written information.
Tumor genomics - Oncomine targeted panel from pre-treatment prostate biopsy with
Tier 2 variants in p53 and CDH1,
Tier 3 in DNMT3A, HRAS, WT1. TSO500
After My Davinci Radical Prostatectomy with 8 lymph nodes removed all negative for PCA and I had 3 lytic lesions resolved in pelvic area hip
Targeted panel from post-treatment prostatectomy with
Tier 1 ATM frameshift alteration,
Tier 2 FOXP1-BRAF fusin, PTEN frameshift alteration, FOXA1 frameshift alteration,
FBXW7 missense, SETD2 frameshift alteration.
TMB high (17.4 muts/Mb),
MSI stable; multiple VUS (BLM, CUX1, EML4, EPHB1, FGFR2, FOXA1, GRIN2A, JAK1, SMARCA4).
Discussed implications.
"gastroenterologist wants to hold off for now on an endoscopy and colonoscopy as the procedure could cause a perforation, "
Wow.
You need to find someone who thinks this situation is important and urgent.
You need to get some gastroenterologist second opinions from some medical centers of excellence.
You need it from the gastroenterologist that does the submucosal surgery.
When there is a perforation, that is the they bring in to fix it. So he is the guy you want to use to do the colonoscopy. And he is the guy who won't be scared to do it.
Even a major medical center will only have one of these guys. Get ready to travel to find one. And you will need a referral by a primary care physician.
Mayo has one, but I forget his name.
Dr. Sidiqui at University of Chicago can do this.
Dr. Aadam at Northwestern in Chicago can do this.
Get on a plane and get some second opinions. Right away. Prepare your primary care physician to start issuing the referrals. These docs will all want referrals.
Even my Medical Oncologist has been laxed bleeding for 3 months, unbelievable this is at NYP Cornell NYC
Find out what who is their gastroenterologist who does submucosal surgery.
Confirm that they got their training in Japan. If not look for one at another large hospital.
These are the guys that repair perforations.
Get an expedited second opinion from that guy.
What was a percentage before the p53?
What do you mean percentage?
I am not really sure, but it looks like that for BAT you need to have 30%.
Sorry I just started to learn about this genetic testing.
I was hoping that you know more.
How many percent of your genes are mutated?
We plan on finding out
How? Did you have a Guardant 360cdx liquid biopsy?
The Cancer Hospital I go to did the panel, I just requested my prostate biopsy samples be sent to John Hopkins, FoundationOne Medicine and a Guardiant test be sent to my MO so I can be tested.
I thought that Guardant 360 is enough alone? Why do we need also a FoundationOne Medicine test? Do they test different things?
I am confused.
Guardant 360 is a liquid biopsy.
Is FoundationOne Medicine test is a tissue biopsy?
If you can get a tissue biopsy do you really need a liquid biopsy also?
I will have a lung biopsy very soon and just wish to understand my options.
We don't even know if the lung lesion is a prostate cancer or who knows what it is. It wasn't PSMA positive.
Any help regarding the biopsy sample analysis would be appreciated.
I just hope that that lesion will not turn out to be a new cancer (lung cancer??). Maybe just a prostate cancer metastasis which still didn't turn PSMA positive or at least still not identified as PSMA positive by the PSMA PET scan.
My lung lesion was identified as possibly cancerous by the recent FDG PET scan but it is not PSMA avid yet.
P53 favors cell multiplication and is also found in neuroendocrine PC. Cancers with the P53 mutation respond well to BAT.
Those tiers are assigned by company that did the genomics. They are grouped according to whether there are known therapies for them and whether they have diagnostic or prognostic (survival) significance. Group 1 is SOC. Group 2 are well-known to have predictive/diagnostic/prognostic significance, but are not yet SOC. In Group 3 are genomic variants where the level of evidence is lower. Those variants do not necessarily have significance for prostate cancer. I know of no therapies based on them (the most common finding).
Thank you
Anyone has treatment addressing Genomic ATM Mutations? 
Three primary cancers? Please help me understand these MRI results!PSA Rising Dx 06/2022 PSA 864.42 to 01/2023 <0.06 now no longer undetectable, I won’t see DR until next month, What will the Dr do? 
What does a high Chromoganin A,S test mean?
Medicare Part D decision
