Tag Archive for: molecular testing

How Genetic Testing Has Revolutionized Lung Cancer Treatment

How Genetic Testing Has Revolutionized Lung Cancer Treatment from Patient Empowerment Network on Vimeo.

Dr. Martin Edelman explains how genetic testing has revolutionized the lung cancer treatment landscape. Want to learn more? Download the Program Resource Guide here.

Dr. Martin J. Edelman is Chair of the Department of Hematology/Oncology and Deputy Director for Clinical Research at Fox Chase Cancer Center. More about this expert here.

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Transcript:

Patricia:

How is genetic testing changing the landscape?

Dr. Edelman:

So, genetic testing – and in this case the testing of the tumor, not the germline, not the individual – has been very, very crucial. If you go back about 20 years ago, there was a family of drugs called epidermal growth factor receptor inhibitors or EGFR inhibitors.

And the basic science at the time made it look like these would be best combined with chemotherapy in squamous cell carcinoma. And as it turned out, combined with chemotherapy they weren’t very useful. But as single agents, there were these occasional very dramatic results.

So, that came at a time when we were able to evaluate tumor DNA, sequence it with some degree of ease at a reasonable cost. So, there was a discovery of specific mutations, which were targeted by these drugs. So, it was sort of interesting in that it was the clinical observation that led to the discoveries in biology, not really the other way around.

But then that in turn resulted in looking for other mutations, which were found, and then the development of other drugs – in some cases, the repurposing of other drugs for those. And now we have about a half a dozen very validated targets, each one of which in a small slice of the population – between say 1 percent and 5 percent – 10 percent of the lung cancer population – but these – if the patient has within their cancer that particular mutation, these are drugs that are 80 percent-plus effective and frequently can be administered with relatively little toxicity.

And usually they’ll give them benefit for one-plus years or more. So, that’s been an example of progress there.

Which Molecular Tests for CLL Will You Need?

CLL Treatment: Which Molecular Tests Will You Need? from Patient Empowerment Network on Vimeo.

 Following a CLL diagnosis, which molecular tests are essential? Dr. Javier Pinilla-Ibarz reviews the types of tests available and their potential impact on prognosis and treatment. Want more information? Download the Program Resource Guide here.

Dr. Javier Pinilla-Ibarz is the Lymphoma Section Head and Director of Immunotherapy in the malignant hematology department at Moffitt Cancer Center. More about this expert here.

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Transcript:

Patricia Murphy:        

Yeah, yeah. Let’s talk a little bit about molecular testing for a moment. What can you learn from molecular testing? When will that –

Dr. Javier Pinilla:        

Yeah, molecular testing is quite important. I think that there’s different tests that we really perform, right? NCCN guidelines, iwCLL, has really, really laid out the fundamental tests that we need to provide, or we need to really do at least – they say “at least” when the patient requires therapy. Why? Because obviously, it’s gonna be an important part of how we are going to see the patient and how the patient is going to behave, even during therapy.

So, we are discussing about obviously FISH tests, FISH tests, that’s a chromosomal analysis that is very, very classical and has been done for years for classical chromosome abnormalities, 11q, 17p, that is the bad, always what you think that is the bad one. It’s true that it may even, with the new therapies, has shorter period of responses, 13q, trisomy 12. So, we set out with this one.

Besides that, what is the other important thing? The mutation status of the heavy chains in the immunoglobin, the IGHV mutation status. Very, very important because even when the new therapies made no difference, while we know patient with unmutated immunoglobulin may really have different outcomes in the long run. The truth is that with ibrutinib, for example, or venetoclax, we don’t see the difference in outcomes, but still we need to see what’s happening in the long run. So, the good news is that with the new therapies, we don’t see difference that we used to see with chemotherapy that unmutated immunoglobulin patients, they may really fail more often than mutated ones.

However, I think it’s something important that we need to implement. Last, but not least, is the TP53 mutations. I think it’s something that it should be implemented, and I think the teaching point is that TP53 mutations, maybe also NOTCH1 or SF3B1 – other mutations that may really give to patients a bad outcome in the long run, at least with the chemoimmunotherapy, it’s something that also can be done, or at least it’s something that will be important to really incorporate to our patients. Not in all the cases, but in some, TP53 for sure.