Tag Archive for: fluorescent in situ hybridization

What Is a FISH Test?

What is a FISH Test? from Patient Empowerment Network on Vimeo.

What is a FISH test for multiple myeloma patients? Watch as expert Donna Catamero explains how fluorescent in situ hybridization (FISH) testing is used, and myeloma patient and Empowerment Lead Lisa Hatfield shares her experience with FISH testing and her advice to other patients.

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Donna Catamero:

So, FISH is a cytogenetic technique. So, what we do is, when we do the bone marrow, we send that off and we look at the genetics. Like I said, it’s a snapshot. And certain mutations will put patients in different risk stratifications, so we normally do this at the time of diagnosis and then with each relapse.

In a FISH test, a bone marrow biopsy is taken to map out the genetic material of a cell using fluorescent dyes. These dyes show specific parts of chromosomes and help locate genetic issues like 11;14 translocation, 17 deletion, and others that are important in determining multiple myeloma treatment. If you have not had a FISH test, make sure to ask your doctor if the test should be performed to aid in your diagnosis and treatment.


Lisa Hatfield:

The first time I heard FISH test I had no idea what my doctor was talking about. It was actually a nurse practitioner who works with my myeloma specialist who said, “Your FISH test came back, and you have two abnormalities. One of them is called translocation 11;14, standard risk. And one is called monosomy 13, which sometime in the past used to be considered a higher risk but apparently it’s not anymore.” She was trying to explain this to me. I had no idea what she meant what a FISH test was. As time went on and I started to study a little bit more, do a little bit more research on myeloma, I understand the significance and the importance of having a FISH test done for anyone who’s getting diagnosed at a local hospital or community cancer center. I encourage everyone to make sure they can have a FISH test done even if that means consulting with a myeloma specialist to ensure that they can find those cytogenetic abnormalities or to test for those. Because that will help guide your treatment and your prognosis going forward. You want to know what those cytogenetic abnormalities are. They’ll be tracking those over time. So a FISH test is kind of confusing. But without going into too much detail, it’s an interesting test that they can do. It’s very helpful if it’s done at diagnosis. Important to be done at diagnosis,  so those genetic abnormalities can be tracked over time through further testing.

Why Should DLBCL Patients Engage in Their Care?

Why Should DLBCL Patients Engage in Their Care? from Patient Empowerment Network on Vimeo.

DLBCL expert Dr. Jane Winter explains the benefits of being an engaged and empowered patient and shares key questions for patients to ask their doctors.

Dr. Jane Winter is a hematologist and medical oncologist at Robert H. Lurie Comprehensive Cancer Center at Northwestern University. More information on Dr. Winter here.

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Laura Beth:

Dr. Winter, why do you think it’s important for patients to be empowered in their DLBCL care?  

Dr. Winter:

You know, a patient who is, I like the word “engaged” as well as “empowered.” I think it’s important for patients to be empowered or engaged because medicine is very complicated and very fragmented these days.  

Now, it’s so difficult to be a patient and to be sick and not be able to really take control. So, patients need to be empowered and they need partners, advocates. It’s a very sad comment on our healthcare system, but to be sure that things don’t slip through the cracks, we, the providers, the hematologist, our job is tough, but we need a patient to partner with us.  

So, for example, if you’re a patient with diffuse large B-cell lymphoma as your diagnosis, make sure to ask, “Was there a result for the FISH?” You need to make sure that doesn’t slip through the cracks. Or, if you are going for a second opinion or going to another medical center, make sure you have your records. I really wish that every patient who had a scan of one kind or another as they walked out the door got a copy of that scan, a disc. Now, that would make life so much simpler. But, make sure that you keep your own records. It’s hard and hopefully, every sick individual has a family member or a friend, someone who’s going to help them with this because this is very tough.  

But, ask questions. “Are there clinical trials I might be eligible for? Are there alternatives to the therapy you’re recommending?” These are all important questions to ask. Don’t be afraid to say, “With this treatment, what is the likelihood that my disease is going to come under control and be cured?” I think you need to know that. And, “Is there a difference between this treatment and that treatment?” Do we know? Oftentimes, we don’t have the answer for the newer treatments, but we’re hopeful.  

I just want to underscore the existence of a growing number of clinical trials that patients need to consider and think about. It’s hard at the time of the new diagnosis to be struck with not only the emotional impact of a new diagnosis and so on and not feel well and so on, but just ask the question. “Are there clinical trials I might consider?” So, that’s important, and also have optimism because the vast majority of patients, we do amazing, amazing things, and that’s why it’s so much fun to be a hematologist right now is that we have so many new and exciting treatments. And what’s more exciting than to make someone healthy again?  

So, these are exciting times. 

Understanding High-Risk DLBCL

Understanding High-Risk DLBCL from Patient Empowerment Network on Vimeo.

What is high-risk diffuse large B-cell lymphoma (DLBCL) exactly? Dr. Jane Winter explains progression of the disease, DLBCL subgroups, and treatment approaches that may bring high-risk DLBCL under control.

Dr. Jane Winter is a hematologist and medical oncologist at Robert H. Lurie Comprehensive Cancer Center at Northwestern University. More information on Dr. Winter here.

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Laura Beth:

Dr. Winter, what is high-risk DLBCL?   

Dr. Winter:

There are certain aggressive lymphomas that are more high-grade. And in recent years, we’ve identified a subset that has genetic changes in certain genes that lead to a very aggressive type of lymphoma that grows rapidly and is more difficult to cure with standard therapy. And what’s most important about identifying that subset is that it requires that at least most of our evidence is that the standard strategy that I just spoke about briefly in terms of what we use for transformed follicular lymphoma, the standard therapy we use for diffuse large B-cell lymphoma called R-CHOP where the “R” is standing for rituximab. 

Again, that antibody that targets a particular marker on the lymphoma cells, CD20 immunotherapy plus chemotherapy, CHOP chemotherapy which has been around for probably 50 years, this very standard backbone of treatment for diffuse large B-cell lymphoma is not sufficient. We don’t have head-to-head randomized phase three trials showing definitely that the more aggressive strategy is so much better, but most of the evidence is that standard R-CHOP just doesn’t do as well in curing these highly aggressive, and what we call high grade or double hit lymphomas.  

These are lymphomas that have these genetic changes, rearrangements in particular genes MYC and BCL2, and I like to think of it as MYC takes the brakes off of growth. So, it’s sort of the rapidly growing disease, and the BCL2 prevents the cells from dying. So, between that, you have a rapidly growing lymphoma that doesn’t stop. And so, that’s a special subgroup of diffuse large B-cell lymphoma. There are some other subcategories.  

Primary mediastinal, which tends to be a type of aggressive lymphoma that presents generally as a big mediastinal mass in the middle of the chest, usually younger patients, more often women than men, but still many, many men as well. So, high-risk generally for me means that it has a double hit. There’s MYC, M-Y-C, and BCL2 genetic changes. There are some other types, but that’s basically what I think of in terms of high-risk. When we think of garden-variety diffuse large B-cell lymphomas, there are some ways of categorizing patients into four different subcategories in terms of “risk.”   

The first of these was what we call the international prognostic index that was developed in the 70s based on patients who were enrolled on clinical trials. In those days, the diagnoses were probably not exactly what they are today in terms of how we categorize patients, but that is a set of clinical features that there’s a little app online and you can calculate whether a patient is high-risk, intermediate, low, low-intermediate risk. In this system remains fairly helpful, predictive. But, we have refined it significantly in modern times. 

And I have to say, not to toot my own horn, but one of my fellows, Dr. Zhao and I, a number of years ago using a database from the National Comprehensive Cancer Network, and patients who all treated with modern therapy and were diagnosed with modern techniques, we used that data to develop a new, improved international prognostic index. And this helps us better discriminate the four different categories, and it places greater weight on patient age, which is an important predictor, as well as the particular blood test result, the LDH, which is an enzyme that’s helpful in aggressive lymphomas and diffuse large B-cell lymphoma.  

And, this particular, what we call the NCCN-IPI, you can just put your age and LDH level and so on into this app and you just find it online, NCCN–IPI, and it will put patients into four different subgroups. And this predict outcomes and survival over a five-year period for these patients. It’s not hard and fast, like anything else, within every category. So, if you look at every patient in the low-risk group by the NCCN–IPI, there still are a few patients who will fail therapy, but the majority of patients will do very well.  

And, if you happen to be someone who is 80 years old with a high LDH and you fall into the high-risk patient group, the outcomes are not going to be as good, but that doesn’t mean every patient in that category fails treatment. So, there’s still gonna be some good outcomes. So, it’s helpful. These are guides, and they do help to identify patients who are, what we call, high-risk or high intermediate risk. So, this is another way of looking at predicting outcome apart from looking at whether a patient is what we call a “double hit” lymphoma. So, the double hit, I just want to make one point is that when a pathologist makes a diagnosis of diffuse large B-cell lymphoma, it is absolutely critical that that biopsy, the pathology be sent for a procedure called FISH.  

That stands for fluorescent in situ hybridization, and it’s a technique the pathologist can use, or special labs will use, to pull out, to identify those patients who have this very high-risk subset of lymphoma called the double hit with both a MYC and a BCL2 rearrangement. Whether a MYC and a BCL6 rearrangement falls into this same risk group, we’re deemphasizing that and really, it’s the double MYC and BLC2 group that’s the highest risk.  

What Is a JAK2 Mutation?

Editor’s Note: This resource, What is a JAK2 Mutation?, was originally published by MyHealthTeam.

One of the most commonly mutated proteins found in myeloproliferative neoplasms (MPNs) is the protein Janus kinase 2 (JAK2). This important discovery has changed how doctors diagnose and treat people with MPNs. We will be discussing both the JAK protein and the JAK gene.

MPNs are blood cancers caused by the overproduction of blood cells in the bone marrow. Mutations in the gene controlling JAK2 protein production occur most often in the three classic types of MPNs:

The V617F mutation in the JAK2 gene is found in:

  • 96 percent of polycythemia vera cases
  • 50 percent to 60 percent of primary myelofibrosis cases
  • 50 percent to 60 percent of essential thrombocythemia cases

Additionally, more than 50 different JAK2 mutations have been found in other parts of the JAK2 gene, primarily in PV cases.

What Is the JAK2 Gene?

The JAK2 protein plays an important role in controlling the production of blood cells from stem cells found in the bone marrow.

The JAK2 gene is responsible for genetically coding the JAK2 protein. This protein is part of the JAK/STAT pathway, which transmits signals to promote cell growth.

When the JAK2 protein is activated, it relays a signal to the protein STAT, which then binds to another STAT molecule in a process called dimerization. This group of molecules then moves into the cell’s nucleus, turning on genes that tell the cell to grow and proliferate.

What Causes JAK2 Mutations?

There are two main types of JAK2 mutations found in MPNs.

V617F Mutation

The V617F mutation is caused by a change in a single base in the genetic code. This simple change then switches the amino acid valine (V) to phenylalanine (F) at position 617 in the JAK2 protein, changing the shape of the protein. When this mutation is present, JAK2 signaling is turned on and cannot be turned off, leading to uncontrolled cell growth. In the case of MPNs, this causes an overproduction of blood cells, leading to blood cancers.

Multiple Mutations

Many different types of mutations can be found within multiple parts of the JAK2 gene. More than 50 different mutations have been identified in the gene, and almost all of these occur in people with PV.

One part of the JAK2 gene is particularly susceptible to mutations. This area genetically codes for a linker that connects two parts of the JAK2 protein. Common mutations here include deletions and insertions. A deletion is when entire pieces of the protein are lost. Insertions occur when incorrect pieces are put into the protein. Insertions and deletions change the shape of the JAK2 protein, which can affect its function.

Do JAK2 Mutations Cause MPNs?

MPNs are caused by a mutation in a single stem cell found in the bone marrow. These mutations cause the cell to rapidly divide, creating too many of one cell type. JAK2 gene mutations are involved in many cases of MPNs. In addition to JAK2 genesmutations found in CALR and MPL genes are also common contributors to the development of MPNs. These three mutations are usually mutually exclusive, meaning that if one mutation is present, then the others are not.

JAK2 Mutations and MPN Diagnosis and Prognosis

A number of tests are required to diagnose MPNs, each providing a different piece of information. The doctor will begin with a physical examination and health history. They may also order a complete blood count (CBC) with a differential, which assesses the number of red blood cells, platelets, and white blood cells.

Because most MPNs are associated with a specific genetic mutation, a pathologist may use blood samples to test for these. Two tests used to identify genetic abnormalities are quantitative polymerase chain reaction (qPCR) and fluorescent in situ hybridization (FISH). Typically, only one of the two tests is required for diagnosis. It is also an option to perform DNA sequencing to identify the driving mutation in an MPN case.

Quantitative Polymerase Chain Reaction

Quantitative polymerase chain reaction (qPCR) is the most commonly used method for diagnosing JAK2 mutations. qPCR is also the most sensitive test, and it can detect small amounts of mutation when other methods fail.

With qPCR, DNA obtained from a blood test is mixed with a fluorescent dye, which is run through a machine that amplifies the sequences containing the JAK2 mutation.

Fluorescent In Situ Hybridization

This test determines whether someone has chromosomal abnormalities contributing to a cancerous phenotype. For example, one type of MPN, chronic myeloid leukemia (CML), is characterized by the presence of a Philadelphia chromosome (named for where it was discovered). A Philadelphia chromosome forms when two pieces of broken chromosomes stick together. This is also called the BCR-ABL1 gene, because one broken piece contains the BCR gene, and the other contains the ABL1 gene.

Most people with MPNs who are Philadelphia chromosome-negative (Ph-) have the V617F mutation in JAK2. This important discovery revealed the driving mutation behind Ph- MPNs. Before the discovery of JAK2 mutation, the cause of these defects was unknown. This also led to the development of specific JAK2 inhibitors for treatment of myeloproliferative disorders.

In 2016, the World Health Organization (WHO) revised its document “WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues.” This revision included new criteria for diagnosing MPNs by the three main driver mutations in JAK2, CALR, and MPL genes. PV is characterized by the presence of a JAK2 mutation. ET and MF are characterized by the presence of any of the three driver mutations.

JAK2 Mutations and MPN Treatments

Since the discovery of JAK2 mutations in MPNs, researchers have developed a number of inhibitors targeting the protein. There are currently two JAK2 inhibitors approved by the U.S. Food and Drug Administration (FDA) for the treatment of MPNs:


Jakafi (ruxolitinib) is approved for treatment of MF hydroxyurea-resistant PV. It is also being investigated for use in people with hydroxyurea-resistant ET. Additionally, some trials are investigating the effects of Jakafi in combination with the antimetabolite chemotherapies Vidaza (azacitidine) and Dacogen (decitabine). Antimetabolites are a special type of cancer drug that interfere with DNA by acting as a substitute for the normal building blocks of DNA.


Approved in 2019, Inrebic (fedratinib) is the newest MPN drug in almost a decade. It’s used to treat three forms: high-risk MF, post-polycythemia vera MF, and post-essential thrombocythemia MF with splenomegaly (enlarged spleen).

Other JAK2 inhibitors are currently in phase 3 clinical trials, including Pacritinib for the treatment of MF and severe thrombocytopenia, and Momelotinib for the treatment of MF. These promising new drugs are in final phases of testing.

Overall, the discovery of JAK2 mutations in MPNs has helped advance drug research, development, and MPN treatment. It has also helped combat uncontrolled proliferation of blood cells, improving the lives of people with MPNs. New medications continue to be developed and tested, providing a hopeful future for those affected by myeloproliferative diseases.

Finding Support With an MPN

You are not alone living with an MPN. When you join myMPNteam, you gain a community of others who know what it’s like to face a rare blood cancer diagnosis.

Do you know whether your MPN has tested positive for a JAK mutation? Did your doctor explain what the results of the test mean for your condition? Share your experiences on myMPNteam.

Which Tests Do You Need Before Deciding on a CLL Treatment Path?

Which Tests Do You Need Before Deciding on a CLL Treatment Path? from Patient Empowerment Network on Vimeo.

Why do you need biomarker testing before deciding on a treatment plan for your CLL? Learn which key tests should occur before treatment begins and how the results may impact your care decisions.

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Why do you need biomarker testing before deciding on a treatment plan for chronic lymphocytic leukemia—also known as CLL?

The results may predict how your CLL will behave and could indicate that one type of treatment may be more effective than another.

Biomarker testing—also referred to as risk stratification, genetic, or molecular testing—identifies specific gene mutations, proteins, chromosomal abnormalities and/or other molecular changes that are unique to YOUR CLL. 

These changes are only in the CLL cells and do not affect all the cells in your body.  These are not genetic changes that you inherit or pass on to your children.

Several tests that may help to guide these decisions, include:

  • The FISH test identifies chromosome abnormalities, including high-risk markers like the 17p deletion.
  • Next is testing for IGHV mutational status, which determines whether IGHV is mutated in a patient. Mutated IGHV indicates lower-risk CLL.
  • Then there is the TP53 mutation status test, which looks for mutations in the TP53 gene.

So why do these tests results matter?

One reason they matter is because patients with certain biomarkers may respond better to one treatment approach over another. 

  • For example, patients who are IGHV mutated have a special benefit from chemoimmunotherapy with FCR and could consider this approach. Patients who are IGHV unmutated should not consider FCR.
  • Additionally, patients with deletion 17p or TP53 mutations should never take chemoimmunotherapy, as it results in only a very short-term benefit.

When are these tests administered?

IGHV status typically doesn’t change over time and only needs testing at diagnosis or before your initial treatment.

FISH and TP53 should be repeated before beginning every treatment regimen, as these results may change over the course of the disease.

How can you make sure you have had essential biomarker testing?

  • First, always speak up and ask questions. Remember, you have a voice in YOUR CLL care. Your doctor is expecting you to ask questions and should be able to answer them.
  • Ask your doctor if you have had or will receive biomarker testing—including FISH, IGHV, and TP53–and how the results may impact your care and treatment plan. Be sure to ask for paper or electronic copies of your important test results.
  • And finally, bring a friend or a loved one to your appointments to help you process information and to take notes.

To learn more about your CLL and access tools for self-advocacy, visit powerfulpatients.org/CLL.

What CLL Tests Are Essential and How Do Results Impact Treatment and Prognosis?

What CLL Tests Are Essential and How Do Results Impact Treatment and Prognosis? from Patient Empowerment Network on Vimeo

Which chronic lymphocytic leukemia (CLL) tests are essential for patients? Dr. Lyndsey Roeker shares details about vital tests for CLL and the influence of results on treatment and prognosis.

Dr. Lyndsey Roeker is a hematologic oncologist at Memorial Sloan Kettering Cancer Center. Learn more about Dr. Roeker here.

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What tests are necessary to help understand a patient-specific disease, both at diagnosis and prior to treatment?

Dr. Roeker:                

So, at diagnosis flow cytometry is the first test done, and what that means is, you take all of your white blood cells in your blood, and you run them through a fancy machine that puts them into buckets. So, you have a bucket of your normal neutrophils, a bucket of your normal lymphocytes, and then you find this bucket of cells that look somewhat unusual. And those have a specific look, if you will, and if they look like CLL cells, that’s how we make the diagnosis.

As you start reading, you’ll find that people talk about monoclonal B-cell lymphocytosis, which is MVL, CLL, and SLL, and a lot of times, it’s confusing because you start reading, and there are all of these – kind of lingo around it. So, what we’re looking for with flow cytometry is how many cells are in the peripheral blood? If it’s fewer than 5,000 per microliter – so, your doctor will talk to you; they’ll either say five or 5,000, depending on what units they’re using.

If it’s lower than that, and you don’t have any lumps or bumps or lymphadenopathy, meaning enlarged lymph nodes, that’s when we make the diagnosis of monoclonal B-cell lymphocytosis.

So, that’s kind of a pre-cancer diagnosis. Then, CLL, the diagnosis, is made in any patient who has greater than 5,000 cells per microliter, or five, if you’re using that unit, and that’s when the diagnosis of CLL is made. If people have lymph nodes that are enlarged, and there are CLL or SLL cells inside of them, but not a lot of involvement in the blood, that’s when we make the diagnosis of SLL, which is small lymphocytic lymphoma. So, CLL and SLL are really the same disease; it’s just where they manifest, primarily. So, whether it’s mostly in the blood, that’s CLL, or mostly in the lymph nodes, and that’s SLL.

Dr. Roeker:                 

So, that’s the flow cytometry test, and that’s kind of the test that leads to the diagnosis.


What about FISH and TP53 mutation?

Dr. Roeker:                 

So, at diagnosis, I often do this testing. Depending on which provider you go to, you may do it at diagnosis or closer to the time of needing treatment. But FISH is basically a test that looks for big changes in the chromosomes. So, if you remember back to high school biology and you see all of those chromosomes laid out, what FISH is looking for is big changes in those chromosomes. So, is there an entire arm of one of the chromosomes missing? And that’s what FISH does.

There’s also something called karyotyping, or in some institutions, they use something called SNP array. These are more refined tests that look for additional changes in the DNA. So, FISH is kind of a targeted look at a few different chromosomes, whereas karyotype or SNP array looks at all of the chromosomes. Then, there is TP53 mutational testing, and that is done through a bunch of different testing, often next-generation sequencing is what we use.

And we basically use a fancy spellcheck to see if there are any misspellings, if you will, in TP53.

And TP53 is a gene that we use. It’s called the guardian of the genome. So, its job is basically to make sure that our cells are reproducing. They keep all the genes in working order. If TP53 is missing or misspelled, it doesn’t work as well, and that’s when people can get more issues with their CLL. It tends to be CLL that behaves a little more aggressively.


What about IGHV mutation status?

Dr. Roeker:                 

So, IGHV mutation status is a really important feature because it really is, of all of the things, what helps us understand the best way to go about therapy. And IGHV mutational status is basically a signature of the CLL that helps you understand how mature or immature the CLL cells are.

In general, mature cells tend to behave a little bit more predictively, and in ways that behave a bit better with therapy. So, the more mature cells are actually mutated IGHV, and I know that’s backward, because usually we think of mutated as being back. But in this case, mutated is actually those cells that are a bit more mature, and that just has to do with how white blood cells develop in our body. If it’s IGHV-unmutated, those tend to be the more immature cells that can behave a little more erratically.


Which tests need to be repeated over time?

Dr. Roeker:                 

So, IGHV mutational status never changes, so that one does not need to be repeated. TP53 mutational status, FISH, and karyotype or SNP array, are ones that I tend to repeat before we start any therapy. So, at the time that you’re going to start your frontline therapy, and then if you have the disease come back and need to be treated again, I usually repeat those tests because those can change over time.

So, that’s both FISH, karyotype or SNP array, and the TP53 mutational testing.


So, it sounds like it’s important for patients to make sure they’ve had this testing. What do the test results reveal about a patient’s prognosis?

Dr. Roeker:                 

So, IGHV mutational status, like I said, really helps us understand how to approach therapy. In general, CLL is a disease that we are increasingly managing with targeted medicines, so drugs that really manipulate the cell biology to either stop the growth of cells or kill the cells so that they pop open. And that has been a trend that has taken place over the last six or seven years, and definitely has revolutionized the treatment of CLL. There is still a small minority of patients, the patients who have IGHV-mutated disease, and are younger, and have fewer other medical problems, that can still be good candidates for chemotherapy.

And the reason that I say that is because in general, chemotherapy for those young, mutated patients cures a subset of patients, so when we look at long-term studies of FCR, which is a combination of chemo and immunotherapy, there are a subset of patients who have a really long period where their disease doesn’t come back, to the point that we call them cured or functionally cured. That’s obviously a word that has a lot of emotional charge around it, and it’s hard because there’s always the possibility of the disease coming back in the future.

But because of those long-term outcomes, we know that there are some patients that can really have long-term benefit from chemoimmunotherapy.

For IGHV-unmutated patients, and especially for patients with TP53 mutations or deletion of 17p, chemoimmunotherapy really is not the right answer, with all of the medications that we have available to us now.

Myeloma Targeted Therapy: Why Identifying Chromosomal Abnormalities is Key

Myeloma Targeted Therapy: Why Identifying Chromosomal Abnormalities is Key from Patient Empowerment Network on Vimeo.

Charise Gleason, a nurse practitioner, provides insight as to why identifying chromosomal abnormalities is essential when it comes to targeted therapy as a treatment choice for myeloma.

Charise Gleason is a nurse practitioner specializing in myeloma and serves as the Advanced Practice Provider Chief at Winship Cancer Institute of Emory University. Learn more about Charise, here.

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So, testing for chromosome abnormalities or changes are important when it comes to targeted therapy.

And we used to think of this more in that relapse setting. But we also look at it upfront now, because it tells us more about the path of myeloma. And there are reasons to check throughout at relapse, again, to see if something’s changed. So, with targeted therapy, we can use the translocation (11;14), for instance.

Many patients have a translocation t(11;14). It’s not a high-risk feature. But we know on clinical trial we have a drug that we’re using called venetoclax that those patients can be very sensitive to.

And so, we’re looking at this not just in translocations but in sequencing for other abnormalities or gene mutations that can help guide us with these newer therapies. And you see that across all cancer types at this point. So, you can get very specific with a patient’s type of myeloma – that this drug is going to work better because you have this mutation.

So, we look at it upfront. It guides us for risk stratification: standard risk versus high risk. And then we look at it in that relapse setting. Do we have a drug or a clinical trial that this patient will respond better to because of those abnormalities?

When we’re risk stratifying, we know standard risk, medium risk, and high risk. Those are those translocations, those gene mutations, that we know about.

But newer testing, like sequencing, gives us a lot more mutations that we don’t even know what to do with them all yet.

We don’t necessarily have drugs for all of them, but it does help guide us down the road. So, right now some common are the translocations, but also deletion 17p, which we’ve known about for a while. But maybe you see a BRAF mutation, which you typically associate with other types of cancers, but we see that in myeloma as well.

So, it helps us look at is there a drug that our myeloma patient might benefit from because they have a BRAF mutation, for instance. 

Essential Imaging and Chromosome Tests after a Myeloma Diagnosis

Essential Imaging & Chromosome Tests After a Myeloma Diagnosis from Patient Empowerment Network on Vimeo.

Charise Gleason, a nurse practitioner, explains why tests such as bone marrow biopsy, FISH test and full-body imaging are considered essential for patients after a myeloma diagnosis.

Charise Gleason is a nurse practitioner specializing in myeloma and serves as the Advanced Practice Provider Chief at Winship Cancer Institute of Emory University. Learn more about Charise, here.

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The essential testing that a myeloma patient should undergo following a diagnosis is – obviously, you’ve had those diagnostic test labs, the 24-hour urine, some scans, but the specific things that we need are a bone marrow biopsy.

That includes cytogenetics and FISH, and we can talk a little bit more about that. You also want full-body imaging. We used to always use a skeletal survey, which was an X-ray of the long bones. But, really, the standard of care now is a whole-body scan.

So, depending on what your oncologist or your institution has, that would be a full-body CT scan, a PET-CT scan, or a full-body MRI. So, one of those tests is recommended. It’s not unusual if you have a PET. Like our institution, we use PET-CT. So, for a newly diagnosed patient, we’re also going to get an MRI of the spine for a further snapshot.

What we’re looking for with a full-body imaging is we want to make sure that there aren’t any lytic lesions.

So, with an X-ray, you have to have about 30 percent bone loss before it’s going to show up on an X-ray. So, those traditional X-rays that we used to use could actually miss an active lesion. So, in that diagnosis, we want to know that there is no active myeloma. And those other scans are going to be more specific to that.

So, the cytogenetics of a bone marrow biopsy are going to tell us more about the biology of the disease. So, cytogenetics actually grows out the pairs of cells. And so, that’s why that portion of the test can take a while to get back.

At our institution, it can take two to three weeks, because you’re actually growing out those cells to look at the chromosomes. And remember these are chromosomes, or genes, of the plasma cells. And so, we’re looking for those abnormalities that might be present. So, you think about it more for the biology of the disease.

When we’re looking at FISH, we’re also looking… That test shows a little bit different. It comes back quicker. It shows two different phases of cell changes.

And so, it will tell us about chromosomes as well. But do you have any additional chromosomes – so, that would make it a hyperdiploid narrow. It tells us if there’s a loss of a chromosome – so, you’re missing one, a hypodiploid. It also tells us about translocations – so, when you’ve had a piece of a chromosome change and go to another cell. And so, that, for instance, would be like that translocation t(11;14) or translocation t(4;14). So, it’s essential to have that testing to tell us about that, because it helps guide treatment. And as we talk more about targeted therapy, these things really can come into play.