Tag Archive for: genetic abnormalities

Newly Diagnosed Non-Small Cell Lung Cancer | Key Advice for Patients

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Newly Diagnosed Non-Small Cell Lung Cancer | Key Advice for Patients from Patient Empowerment Network on Vimeo.

What’s key advice for newly diagnosed non-small cell lung cancer (NSCLC) patients? Expert Dr. Christina Baik from Fred Hutchinson Cancer Center discusses genetic testing, essentials to know about your lung cancer, and patient tips to ensure your best care.

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Transcript:

Lisa Hatfield:

When a patient is diagnosed with non-small cell lung cancer, is genetic testing always done on the tumor, or do patients know what their mutations are right upon diagnosis if testing is done?

Dr. Christina Baik:

So, as a rule of thumb, they should, all patients should be tested, and there are exceptions. So, for example, in lung cancer, there’s the type that we call small cell lung cancer, and there’s non-small cell lung cancer. So we often, we usually do not do genetic testing on small cell lung cancer, because often these tumors do not have a genetic abnormality that for which we can actually give treatment for. But for non-small cell patients, I would say, if most, my personal opinion is that everybody should be tested with the genetic test and really advocate for that. You know, there are certain types of non-small cell lung cancer where there are genetic targets that are rare, however, you don’t know unless you test. So I would say yes to that question of testing for genetic abnormalities.

Lisa Hatfield:

Okay, thank you. So can you speak to the priorities for newly diagnosed patients, particularly populations who may have poor outcomes?

Dr. Christina Baik:

So, I think there are priorities when it comes to research, and then there are priorities for individual patients, right? So from a research standpoint, as I mentioned before, I think really the priorities, the priority is to develop strategies so that we’re truly personalizing treatment for each patient, and we’re not giving this kind of generic treatment for a bulk of the patients. So from a research standpoint, really understanding the biology, understanding what works for what patient, I think that’s extremely important.

On the individual patient level, we sort of alluded to this earlier, but really knowing the cancer we’re dealing with is extremely important. Know your cancer stage, ask what your cancer stage is, know the type of lung cancer that you have. So I will say as of now, there are, I can think of 12 or 13 different types of lung cancer that I want to make sure I know that patients, you know, what their subtype is.

So know your subtype of lung cancer. Ask those questions. If the knowledge is not known, if they say, “You know your stage is not very clear, your subtype is not clear,” then ask why that is, what type of additional testing that needs to be done. So I think those are the type of questions that each patient and their family member should really ask. And in terms of the poor outcome question, I think the first thing I would say is if a doctor tells you, you belong to a group of patients who are going to have a poor prognosis, then ask why that is, right? And understand the reasons for that.

And if that’s, once you understand, I think I’m a big proponent of getting second opinions, because a lot of these treatments and there’s a lot of medical judgment involved when we recommend treatments, and you just want to get a different perspective with the same type or set of information. So really being an advocate for yourself, I think that’s extremely important when you’re first diagnosed.

Lisa Hatfield:

Great, thank you. You mentioned two things I also feel strongly about, I don’t have lung cancer, I have a different type of cancer, but you said that patients and family members can ask questions.  Having an advocate with you at all times, if that’s possible, a family member, a friend going with you, I think is super important.

And also getting a second consult to understand your diagnosis better. I appreciate you saying that, because some of us are a little bit reluctant to do that, maybe afraid of offending our doctors. So, I appreciate that as a patient myself, so thank you. Okay. So talking about disease progression and recurrence, particularly for metastatic non-small cell lung cancer, what should patients know?

Dr. Christina Baik:

Okay. So when a cancer initially responds to a treatment and it stops responding, there can be many reasons for that. So the first question to really think about is is there another test we can do to identify the reason for the progression? And can we personalize a treatment according to that resistance pattern or the change that occurs in the tumor? This is more relevant to patients who get a targeted therapy, but I think it’s a good sort of rule of thumb in terms of asking your doctor why that is, and is there more testing that’s required?

And the second I would say is once the cancer progresses after the initial treatment, then, unfortunately, in lung cancer the treatment options are much more limited, and the effectiveness is very limited as well. So, it’s really at that juncture to really seek out clinical trials. There are many trials that are out there. So really working with your doctor in identifying these trials. If there is an academic center that’s close to you, at least inquiring about that. In lung cancer, fortunately, there are many wonderful advocacy groups and these advocacy groups can be great resources in finding out about clinical trials and where to seek out opinions. So, I think it does require some homework at the time of progression but really seek those out.

Lisa Hatfield:

Okay. Thank you. Now, if a patient does have an interest in a clinical trial, say maybe they have, their cancer has progressed, would they seek out that trial through the academic center itself? If, say they live in a rural area and they don’t have access, would they contact the academic center itself, or would they seek out a specialist like you first to ask about those clinical trials?

Dr. Christina Baik:

So they sort of come together in a way, because a lot of the specialists are in academic centers. So I think there are two ways to go about it. One is to meet with the specialist who can give you kind of the landscape of where things are and what might be appropriate. So, that’s one way to do it.  The other way to do it is if there’s a particular clinical trial that you’re really interested in based on discussions with other patients or through advocacy groups, if there are particular clinical trials, usually the contact information is listed on the clinicaltrials.gov website, and the contact number is usually for the research team who can give you more information about that particular trial.

Lisa Hatfield:

Okay. That’s very helpful, thank you. And thank you for this overview. I just want to recap a couple of points that you made that’s really important for patients to know. You had mentioned knowing their type, their subtype of lung cancer, knowing their stage, and knowing their mutations and having an advocate. I think those are all really great tips that you gave.

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What Standard Testing Follows a Myeloma Diagnosis?

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What Standard Testing Follows a Myeloma Diagnosis? from Patient Empowerment Network on Vimeo. 

What tests will you have following a myeloma diagnosis? Are there additional tests you should request? Dr. Joshua Richter provides an overview of key testing for myeloma and why each test is necessary.

Dr. Joshua Richter is director of Multiple Myeloma at the Blavatnik Family – Chelsea Medical Center at Mount Sinai. He also serves as Assistant Professor of Medicine in The Tisch Cancer Institute, Division of Hematology and Medical Oncology. Learn more about Dr. Richter, here.

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Transcript:

Katherine:

What standard testing follows a myeloma diagnosis?

Dr. Richter:

So, the standard testing that follows a myeloma diagnosis is multifaceted. So, the first one is blood work. And we draw a lot of blood tests to look at the bad protein that the cancer cells make. So, we send tests like a protein electrophoresis which tells us how high that bad protein is. We send immunofixation. That test tells us what type of bad protein it is. You’ll hear names like IgG kappa and IgA lambda.

These are the different types of bad proteins made by myeloma cells. Oftentimes, we’ll send urine tests to find out how much of that bad protein that was in the blood is coming out in the urine. We will, typically, do a bone marrow biopsy. It’s a test where we put a needle into the back of the hip bone to look at the marrow itself. And we’ll use that marrow to figure out how much myeloma there is, any other characteristics like the genetic changes in those cells.

The other big thing is imaging. So, the classic imaging that we do with myeloma is something called a skeletal survey. It’s, basically, a listing of X-rays from head to toe. But nowadays, we have newer techniques, things like whole body low-dose CAT scans, something called a PET-CT scan, and MRI scans. And your care team may have to figure out which one is right for you at what given time.

Katherine:

Mm-hmm. Are there additional tests that patients should ask for?

Dr. Richter:

Absolutely. One of the most important things from myeloma has to do with the genetic risk stratification.

So, for almost all cancers, the staging has a very big impact. And people will often think of cancer in stages I, II, III, and IV, and they’re managed very differently depending upon what stage it is. Myeloma has three stages, stage I, II, and III. But the most important thing is, actually, beyond the staging is what’s called the cytogenetics risk stratification. So, it’s really important when the bone marrow is sent to be sure that it is sent for, kind of, advanced techniques. Because you really want that snapshot of exactly what the genetic profile is, because that gives us information of A) how to treat, and B) prognostic, you know, who will tend to do better or worse based on this information. And even though that may not tell us which drugs to use, specifically, it may say, should we do something like a transplant or not? Should we consider a clinical trial early or not?

Katherine:

I see. How do test results affect treatment choices?

Dr. Richter:

So, test results can affect treatment choices in a number of ways. Probably, the most common one is thinking about the routine blood tests like your CBC or complete blood count and your chemistry, which looks at things like your kidney function. Some drugs tend to have more toxicity to the blood counts. So, if your blood counts are very low, we may choose drugs that don’t lower the blood counts very much.

Kidney function which we, usually, measure by something called the creatinine. Creatinine is made by the muscles and cleared out by the kidneys. So, if your kidneys aren’t working very well, you don’t pee out creatinine, and that creatinine level will rise in the blood. If your creatinine level is high, we may choose certain drugs that don’t affect the kidneys or not metabolized or broken down by the kidneys.

The genetic studies that we use – we’re not quite at this base yet where we can say, if you have this genetic abnormality in your myeloma, we should use this drug except there’s some really great data on the cutting edge about a drug called venetoclax.

Venetoclax is a pill that’s used to treat other diseases like lymphoma and leukemia. And it turns out that people who have what’s called a translocation (11:14) which means part of the 11th chromosome and part of the 14th chromosome in the cancer cells swap material.

Those people respond amazingly well to venetoclax. So, we’re starting to have what we would call precision medicine where we find your genetic abnormalities, not that you got from your parents or passed to your kids, but the genetics inside the tumor cells to tell us which treatments will work best for you.

What Should You Know About CLL Genetic Testing?

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What Should You Know About CLL Genetic Testing? from Patient Empowerment Network on Vimeo.

In chronic lymphocytic leukemia (CLL) diagnosis and disease management, genetic testing plays a key role. Dr. Jennifer Woyach explains what is examined in CLL genetic testing, the timing and administration of testing, and testing advances.

Dr. Jennifer Woyach is a hematologist-oncologist specializing in chronic lymphocytic leukemia (CLL) at Ohio State’s Comprehensive Cancer Center – James Cancer Hospital & Solove Research Institute. Find out more about this expert here. 

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Transcript:

Katherine:                  

Before we get deeper into our conversation about genetics, there are a few terms that patients are often confused by. As a primer, I thought we could start by defining some of these terms. First, what is genetic or molecular testing?

Dr. Woyach:               

So, all cancer cells will have a collection of mutations or abnormalities in the DNA that either make the cell a cancer cell or make it behave in a certain way. And so, these mutations are referred to as the genetic abnormalities of the CLL cells. So, when we talk about genetic testing in CLL, we use it to mean a number of things. We can use it to look specifically for types of mutations so types of genetic abnormalities.

 We also sometimes use that as a kind of catch-all term like genetic or molecular testing also to refer to looking at changes in the chromosomes inside of a CLL cell. That’s also called cytogenetic testing. And then, we also use a number of tests in CLL where we look at specific, not necessarily abnormalities, but just changes in the cell that can indicate a certain type of behavior.

Katherine:                

How is this different from genomic testing?

Dr. Woyach:               

So, genetic and genomic testing, I think, are usually used interchangeably. But sometimes, we use them in different contexts but they really mean the same thing in this case.

Katherine:                  

Okay. And what is a chromosome change?

Dr. Woyach:              

So, as you might remember from biology class maybe a long time ago, as it was for me, inside a cell, so a normal cell or a cancer cell, you have the nucleus, which holds the DNA.

And the DNA is organized into chromosomes. And so, when a cell goes through division, it takes those chromosomes, copies them and then, breaks them apart into two different cells. So, changes can happen in the level of the DNA itself. So, a mutation where one base is changed to something different. So, that would be just like a single nucleotide change. And that’s something you’re not going to see as a change to a chromosome. Another thing that can happen in CLL and in other cancers, too, is that during that process of cell division, an entire chromosome could be duplicated. It could be absent.

More commonly, parts of chromosomes can change. This is all because cancer cells just do a very poor job of editing their division.

An in normal cells, there are multiple steps along the way from the process of copying the genes to copying the chromosomes to doing the division. And every step along the way, if something happens incorrectly, which happens a lot, the cell usually just dies. But a cancer cell is not going to do that because it has so many signals that keep telling it to stay alive that it can tolerate a lot of different abnormalities. And so, you end up with cells that are just very different from what you would see normally.

Katherine:                  

All right. Well, that’s a great way for us to start. Let’s go into the discussion of the relationship between testing and CLL. How is testing administered?

Dr. Woyach:               

So, almost all testing, in terms of molecular genomic testing in CLL, can be done on a blood sample. So, that’s one important thing.

The CLL guidelines recommend that testing for certain prognostic factors be done before the administration of therapy. So, at the very least, before somebody starts treatment, they should have these tests performed. In my practice and I think most CLL specialists find it really helpful to do these tests, not necessarily just at the time of treatment but really at the time of diagnosis or the time we first see the patient because CLL is a very heterogenous disease, which means that it behaves very differently in different people. So, there are some people that are diagnosed and will go 10 or 20 years before they need any treatment.

And many don’t need treatment at all. Whereas other people are very likely to need treatment within the first few years after diagnosis. Some of the genetic tests that we do can help counsel patients on where they’re likely to fall in that spectrum.

And so, I think that’s helpful for people to know early on in the disease course. But really, the tests can be performed at any time before treatment

Katherine:              

Have there been advances in testing?

Dr. Woyach:               

Absolutely. I think in every cancer, we’ve learned so much more about the biology of the disease, specific mutations that cause specific behaviors of cells, and really much more in CLL about the common genetic changes and what those means to response to therapy.