Post- CURE OM Community Teleconference Follow-up

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12/17/2011 2:10pm
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Replies: 6

Dear All--

Thank you for joining the first CURE OM Community Teleconference.  We threw out a lot of information and only had about 15 minutes for Q&A so please feel free to use this space to ask any additional or lingering questions.... we are here to help answer your questions, and, if it is something we don't know, we can try to find the answer for you.

Also, in case you were unable to join the call in person, we will have the recording up on our website (www.cureom.org) soon.  Feel free to ask questions after listening as well...

Warm Regards,

Sara - CURE OM

Thank you Sara, and all of the other presenters, for the excellent information given during the teleconference. I look forward to listening in on future presentations.

I withdrew my question at the last moment because it was really along the same lines of what Esther had just finished asking. I'll reword my question here, in case Dr. Harbour or anyone else has additional info to respond with:

Heterogeneity within the tumor environment is well-established, so my question was related to how sure we are that a FNAB is representative of the tumor as a whole. Dr. Harbour briefly mentioned that looking at specific gene mutations (eg. BAP1) is prone to sampling error from this heterogeneity, but that he felt more confident looking at a genetic profile (eg. the small array of genes included in the Castle Biosciences DecisionDx-UM assay). Has anyone investigated whether this genetic profile is in fact consistent across an entire tumor that is known to be heterogeneous for a BAP1 mutation?

Similarly, I was going to ask how the Castle gene array relates to BAP1, but again Dr. Harbour sort of touched on why he prefers to look at more than a single mutation. Is it known how a Class 1A/1B/2 designation correlates with a BAP1 mutation?

Happy Holidays to all,

Jeremy Brower

Dear Jeremy,

Thank you for joining our recent CURE OM Community Teleconference and I am sorry you did not get your question answered during the call.  Your question is a good one-- I will pass it along to Dr. Harbour and will post when I get a response.

I hope you are well.

Warm Regards,

Sara - CURE OM

Also-- for those who may have missed the CURE OM Community Teleconference, or if you were on the call, but want to listen to parts of it again, the link is now up on our website-- there is a link to the recording from the first page: www.cureom.org

Sara - CURE OM

 

Dear Jeremy,

In follow-up to your questions from the CURE OM Community Teleconference, this is what Dr. Harbour has to say:

 

"Sampling error due to tumor heterogeneity is a possibility with any genetic test, whether it be based on analyzing chromosomes, mutated genes or gene expression profile.  However, the risk of sampling error appears to be much lower with gene expression profiling because this technique measures a multifactorial "snapshot" of an entire region of a tumor, rather than individual cells. 

Gene expression profiling utilizes pattern recognition software, so if one thinks of recognizing a low risk versus a high risk tumor as analogous to recognizing different faces, gene expression profiling uses information from the eyes, nose, ears, hair, chin, etc. whereas chromosomal markers rely on just the nose or ears in isolation without seeing the whole "picture".

We have sampled mulitple regions across tumors and tested them for gene expression profile, and we found it to be rare (perhaps 5% of tumors) to find both class 1 and class 2 regions within the same tumor.  This was published in Journal of Molecular Diagnostics in 2010.

As for the second question, we are seeing BAP1 mutations in ~85% of class 2 tumors, but not in class 1A/1B tumors."

 

Take care,

Sara - CURE OM

Thank you for posting the teleconference on the website.  I was working and upset that I wouldn't be able to listen in.  When I was treated with brachytherapy, I had fine needle biopsy done at the time, but the only thing that they looked for was monosomy 3, which I have.  Does this automatically put me in class 2 or are there some tumors that have monosomy 3 that are low risk for metastasis?  I don't even know about chromosomes 6 or 8 so I feel lost in terms of my results.

Hi Tina,

Glad you were able to listen to the teleconference and hope that you found it helpful.

From what I understand, at this point, there is no way for sure to say whether you are in class 2 or not because that is a separate test that looks at an overall gene expression pattern rather than looking just at chromosome 3.  However, class 2 tumors, statistically, are more likely to have loss of chromosome 3.

Are you able to discuss the implications of this with your ocular oncologist and/or do you have follow-up with a good medical oncologist?  If you need recommendations, we have a list of physicians experienced in OM on our website in case that would be helpful.  It sounds like it is important for you to discuss this further with your physicians....

I hope the new year brings good health and happiness to you and your family,

Sara - CURE OM