What genetic tests are likely to be done on the bone marrow biopsy sample in myeloma? Are there any blood based genetic testing done?

Cytogenetic testing plays a crucial role in multiple myeloma care. It can actually help guide which treatments may work best for you. That's why it's so important to have this testing done.

In this HealthTree University lesson, you'll learn about the different types of cygenetic tests that can be performed on your bone marrow biopsy sample, and how the results can shape your personalized treatment plan.

What genetic tests are likely to be done on the bone marrow biopsy sample in myeloma?

When a patient's newly diagnosed, typically a bone marrow aspiration is obtained and classic or routine cytogenetics will be performed again in a specialty lab. There are particular mutations that can be picked up, by routine cytogenetics that are particularly prognostic.

When they perform cytogenetics, it requires the cell to be dividing. And so in multiple myeloma, oftentimes you can't you don't catch the cells and division because plasma cells are very mature and they don't typically divide rapidly. So oftentimes it will show no abnormality where as there you're missing it. You're missing the cells and division.

Routine cytogenetics testing, also known as karyotyping requires cells to be dividing because it analyzes chromosomes, which are only visible and distinct enough to count during the metaphase stage of cell division. Since myeloma cells don't typically divide rapidly, other techniques need to be used.

A technique called FISH, which I think is appropriate because you're fishing, you can't just right, you need to know what you're fishing for. So there's myeloma FISH panels. So there are certain mutations that we know of in multiple myeloma that are commonly seen and some of which can be very high risk. Some are more standard risk and some potentially even favorable.

And so now that that's known, then there are particular probes that you can probe. And it does not require the cells to be dividing. And therefore it's much more sensitive. It also can be done oftentimes retrospectively after the test has been done, when the patients had routine cytogenetics.

Retrospectively, often you can go back and do FISH analysis on previous samples if it wasn't run. But it is a more sensitive cytogenetic analysis because it doesn't require cells in division. And again, it has implications in terms of prognosis.

So depending on the panel there typically anywhere from 8 to 10 different probes that are looking for particular mutations.

Can cytogenetic testing be done on a blood sample as opposed to a bone marrow biopsy sample?

As of right now, the karyotyping, the cytogenetics, the FISH is really based on a bone marrow aspiration. There are, new techniques looking for, mutation and gene expression from blood without having a patient undergoing a bone marrow aspiration. But as of right now, not really sort of commercially available, but it's being looked at and hopefully soon, that will make bone marrow aspiration unnecessary.

Besides karyotyping and FISH, are there other cytogenetic tests that can be done on a bone marrow sample?

A lot of centers also doing what is called NGS and next gen sequencing, where they do a little bit more of a deep dive within the tumor, and try to get more data in terms of what the mutations are available.

So you get, you know, whether it a presence of a KRAS mutation or BRAF mutation, things of that nature that, you know, are not as well defined in terms of prognostication for patients with myeloma, but do present of possible avenue to conduct research into how that plays within, you know, the myeloma sphere itself, whether there's mutations or bystander mutations versus their mutations that can actually make myeloma worse or cause worsening disease or more resistant disease.

What is the future of cytogenetic testing in myeloma?

The classic way of getting hold of the tumor cells is to put the needle into the hip and suck out some of the bone marrow. Everybody with myeloma has had it. Nobody likes it. It's important.

In the past, we would just look at it under the microscope and make a diagnosis. Now what will happen is that we'll use magnetic beads to pull the bad cells out and then make DNA from those bad cells.

The FISH testing is where you label up to a probe to a bit of DNA, and then see where that DNA goes, or whether that DNA split apart. These are perhaps or you perhaps should be considered as primitive these days because with the advent of next generation sequencing, it's become very easy to find all of the genetic changes that you need to know about with a simple, sequencing test, you can turn those tests around quite quickly.

So we're in the world of patients knowing what the genetics of that cancer is. And being able to use that information to direct their treatment.

Karyotyping, FISH, and next generation sequencing are types of cytogenetics testing that can be performed on your myeloma cells.

Take charge of your myeloma care. Ask about the cytogenetics of your myeloma cells. Have your health care provider review your FISH test results with you and explain how they impact your treatment plan.

While FISH testing is standard, NGS and gene expression profiling are becoming more common. Be sure to ask about those too.

Want to better understand the lab technologies used to analyze genetic abnormalities and assess risk? Watch the HealthTree University lessons on Cytogenetic Testing in myeloma.

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