At what point should gene/mutation testing be done?

Portal Forums Lung/Thoracic Cancer Cancer Basics Survivorship and Follow-up At what point should gene/mutation testing be done?

This topic contains 4 replies, has 4 voices, and was last updated by agent99 agent99 3 years, 11 months ago.

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August 23, 2014 at 12:55 pm  #1265561    
agent99
agent99

Hi Cancergrace:
It made sense to me that since my sweetie’s nsclc adenocarcinoma was removed by pneumonectomy and mediastinum nodes were negative on frozen section and pathology that expending resources on gene testing was not critical. 6 months post surgery, his CT scan shows enlarged mediastinum lymph nodes up to 9 mm. The next scan is scheduled for 4 rather than 6 months to more closely monitor this finding. Before 6 month post surgical scan he had 6 adjuvant chemo treatments of carbo/alimta.

Since my brain can’t stop strategizing I’m wondering if it makes sense/cents to request the gene testing be done now – before the next scan in November. The reason is if the lymph nodes are still enlarged and they biopsy positive then we wouldn’t have to wait more time to figure out a treatment plan if targeted therapy becomes an option. I suppose the tissue from the pneumonectomy would be tested unless there is a possibility that there could be a different mutation in the lymph nodes caused by chemo, biological mechanism, continued but minimal smoking, x-ray, etc. then testing the lymph nodes is more appropriate, thus we just anxiously sit back and wait.

If this scenario is not appropriate for gene testing then which ones are?

As always, thanking you in advance for your dedication, commitment and honesty

Best regards,
Lisa

August 23, 2014 at 1:46 pm  #1265562    
JimC Forum Moderator
JimC Forum Moderator

Hi Lisa,

I understand your concern. In the early days of mutation testing, there were a very limited number of labs performing those tests, and wait times were significant. (For example, when my wife was diagnosed back in 2008, we elected to begin chemo even though as a non-smoking female she had an increased probability of having an EGFR mutation, just because we didn’t want to wait before beginning treatment).

Now results come much quicker, and it can be important to have test results that show exactly which mutations are present at the time a treatment choice is being made. Cancer is all about mutated cells, and those cells can continue to mutate, so if you can you want to get the most current picture as possible. Also, cancer cells in one location can have a different histology than those in another. Finally, every procedure entails some risk, and since your sweetie’s lymph nodes may not prove to be an issue, obtaining tissue for testing may entail an unnecessary risk.

Only in the case of a very rapidly progressing cancer can it be more important to begin treatment before obtaining mutation testing results, but the scans to date do not seem to have indicated that.

I’m sorry that all too often a cancer diagnosis leads to a great deal of uncomfortable periods of uncertainty as you await test results.

JimC
Forum moderator


Jul 2008 Wife Liz (51/never smoker) Dx Stage IV NSCLC EGFR exon 19
4 cycles Carbo/alimta, 65% shrinkage
Tarceva maintenance
Mar 2010 progression, added Alimta, stable
Sep 2010 multiple brain mets, WBR
Oct 2010 large pericardial effusion, tamponade
Jan 2011 progression, start abraxane
Jun 2011-New liver, brain mets, add Tarceva
Oct 2011-Dx Leptomeningeal carcinomatosis; pulsed Tarceva
At rest Nov 4 2011
Since then: http://cancergrace.org/blog/jim-and-lisa

August 23, 2014 at 2:51 pm  #1265564    
Dr West
Dr West

I would agree that it doesn’t make a lot of sense to do testing now. There would be no value in testing in the absence of recurrent disease, and if there was some new lymphadenopathy, new nodules, etc., often we’d really prefer to confirm recurrent cancer (rather than inflammatory changes or some other process) and then would have tissue from the most relevant tissue available, getting a molecular profile from the actual tissue being treated now.

-Dr. West

August 24, 2014 at 9:51 am  #1265573    
catdander forum moderator
catdander forum moderator

Lisa, I just want to say, I know how you feel. The need to plan for whatever is might be next is as common as breathing (no puns intended). I think Jim and Dr. West’s comments provide that info.

My plan/hope for your sweetie is to never need it.

Janine

August 27, 2014 at 2:44 pm  #1265606    
agent99
agent99

Thanks JimC and Dr. West – I don’t think I can drum up any more scenarios to make the next 2.5 months arrive earlier so I’ll just sit back and give my brain a break for a while!

Thank you as well Janine – I very much appreciate the way you see past the technico-medical question and hone in on the caregiver anxiety. I try to camouflage it but it takes one to know one, two, three…..

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