Post-surgery, SBRT, genomic analysis consult
Happy to report I am in a good place 6-months after my left lung wedge resection and right apical lung "CyberKnife" radiation for slow-growing bi-lateral nodules. My follow-up CT was this morning, and the results already posted on my patient portal!!! I reaffirm the inspiration provided by our late, great friend Donna Faye; no scanxiety this time around. As DF counselled, I eagerly anticipated the scan bc I need the info and worrying doesn't change the facts. I was firm in my belief it would confirm my feeling of well-being and the success of the treatment. I opened the test result message immediately and skipped down to the "final impression." All good; the surgical site is clear, no new nodules and the nuked nodule shrank from 6 mm to 4 mm and the adjacent smaller one was not visible at all today. Abdomen and pelvis also normal. I go for my 6-month review with my gyn-oncologist in a few weeks, when I am most interested in the doctor's analysis of my genomic/genetic tissue analysis. I am here today to solicit areas of inquiry I might profitably explore with the doctor.
First, I want to thank whoever it was who posted the link to a very informative article about interpreting genomic indicators at:
I don't think there is any "ah hah" nugget in my report but many of you are much more able to interpret these scientific articles so I welcome any feedback.
My surgical tumor sample was sent to CARIS Life Sciences.
I am Mismatch Repair Status - Proficient
I am MSI- Stable
I am Estrogen Receptor (ER) Positive 100%; and Progesterone Receptor (PR) Positive 10%
My Immunochemistry Results are:
MLH1 - positive; MSH2 - positive; MSH6 - positive (No Lynch Syndrome)
PD-L1 (SP142) - Negative
PMS2 - Positive
PTEN - Positive
My Tumor Mutational Burden (TMB) is Low (6)
My Genomic Loss of Heterozygosity (LOH) is - Low (1% of tested genomic segments exhibited LOH) (assay threshhold is > 15%)
My Cancer-Type Relevant Biomarkers are (in addition to those below) are:
NTRK1/2/3 - mutation not detected; BRCA1 - mutation not detected; POLE - mutation not detected
My Pathogenic (PV) or Likely Pathogenic Alterations (LPV) are:
ARID1A - PV (2 defects: p.Q288 & p.W1686); CTNNB1 - PV; PIK3CA - LPV; PIK3R1 - LPV; PTEN - PV (2 defects: p.H93Y & p.H118fs)
Variants of uncertain signficance were:
BRCA2 and KIT
I gather there was insufficient volume to obtain reliable results for several other genes, including FLT3, which is the copy number alteration (CNA). Copy number hi/lo can be a prognostic indicator but my results are indeterminate.
From what I can discern from my "studies," some of my results indicate "better" prognosis and some "worse." Although I am eligible for Keytruda now, I read where the PD-L1 "negative" indicates less efficacy of immunotherapy.
Anyhow, I won't argue with real life experience in that I have lived with endometrioid adenocarcinoma for 16 years, through 6 treatments (surgery x 2, radiation x 3, hormone therapy) and I am NED and feeling fine.
I am glad I did the surgery to get tissue to analyze. It reinforces, I think, my oncologist's advice that I have an "indolent" variety of cancer that grows slowly. My doctor is happy with the high ER status saying that gives us more arrows in the quiver down the road. My degraded PR status is due to the progesterone therapy I was on for 4 years.
I don't know whether the tissue analysis reveals any "explanation" for why this cancer developed in the first place. All I can do is continue to live a healthy and active life and keep up the Metformin and the supplements my functional medicince specialist prescribes.
Any insight to these results (comments, articles to read, etc.) would be much appreciated.
Best wishes, Oldbeauty
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