Role of Diagnostic Testing in Patients with Multiple Myeloma


Experts in multiple myeloma management consider essential tests that aid in the diagnosis and treatment of newly presenting patients.


Faith E. Davies, MD: I don't know whether Beth or Joe wants to take this. We talked a little bit about the need for CBC, for renal function, for light chains…Closing that bit of that discussion, I don't know if you want to mention something about PET scans and risk stratification and so on. So maybe, Joe, you fire away first.

Joseph Mikhael, MD, MEd: Sure, I'll jump in first...There's been such an evolution in myeloma in the way we diagnose it. And as we've been discussing, the whole notion of catching it earlier becomes really important. And so, when we do that workup for a patient [with] myeloma…we start with those basics: The CBC; the biochemical profile that includes protein evaluation, which is specifically the serum protein electrophoresis with immunofixation; a 24-hour urine [test] with immunofixation; and the serum free light chain assay. Then we move to the bone marrow test, where not only do we see the number of plasma cells, but also—as you mentioned, Faith, and this is one of your world contributions and your expertise—risk stratification. And there's such a difference in myeloma between the patients [who] may have high risk genetics and standard risk cytogenetics. And so, doing FISH testing becomes really now absolutely critical.

And then, lastly, on the imaging standpoint…the days of the skeletal survey…have essentially disappeared. If someone does a skeletal survey and it's positive, it tells you a lot because there's at least 30% damage. But we've really moved to more advanced imaging, whether that's a whole-body CT or very often here in the US, PET scanning has become the standard. We may still do an MRI, in particular, of the spine if a patient is having pain or there may be concern about the integrity of their spine…processes, etc. But when we image, we need to do imaging that's more sensitive because if we just leave it to the skeletal survey, we'll underappreciate the value or the importance of bone disease in the patient. I don’t know, Beth, if you have more to add to that.

Beth M. Faiman, PhD, CNP: Yes...those are some really important points. Circling back to the bone marrow biopsy, if you're a community oncologist and you are obtaining a bone marrow biopsy…in many centers, FISH testing is not performed at baseline. So, if somebody has anemia or unexplained cytopenias, you obtain a bone marrow biopsy and there's 70% clonal plasma cells. But FISH and risk stratification has not been completed. So, the question is whether or not you repeat that bone marrow biopsy to have that prognostic information. And, so, that's a big debate and something that's not always carried through.

But definitely consider the age of the patient, the fitness of the patient, and what the goals of therapy are. So, if it's an 86-year-old lady with anemia and she's got myeloma, maybe prognostic information [is] not as important as a 52-year-old avid runner. So, [think] about that and [take] that into consideration, the types of this [cytogenetic testing]. Going back to the imaging, the…International Myeloma Working Group has some beautiful guidelines on bone imaging in myeloma. So, if you have somebody with a moderate monoclonal protein in the community, then…whole body PET scan or a low dose CT scan, which is not readily available, spine MRI—and it's actually complete spine MRI—we have quite a few smoldering [myeloma] studies where we've included this into the diagnostic approach. And PET CT scans don't always identify osteolytic lesions greater than 5 mm, which are hallmark for the diagnosis. So, if you're really, really looking in the community for accurate diagnosis, make sure you're looking to the guidelines. And I'm going to put a plug in for the International Myeloma Working Group guidelines, because that's what I use.

Faith E. Davies, MD: Fantastic. Katie, do you want to add anything on that?

Katie Joyner: No. This is a little outside my area of expertise, so I'll leave it to the clinicians to comment. But yes...Joe and Beth covered everything perfect.

Beth M. Faiman, PhD, CNP:[I] have one more point from Katie's perspective, if I can interject. So, this would be something for myeloma patient. If somebody is…a patient or a caregiver and they're just not getting the appropriate diagnosis—you're in the community, and [you’re] a consumer of these guidelines and recommendations—get a second opinion. Or if you're diagnosed, get a second opinion as to whether or not treatment is required because there are so many clinical trials now available. Maybe they didn't have FISH testing. Refer them to a larger center and maybe they'll have access to clinical trials with newer and unique drugs and well-designed…earlier aspects of treatment. And we'll talk about that later, I'm sure.

Katie Joyner: We do see a lot of disparities in availability of testing and like you said, not…FISH testing and other things aren't necessarily going to be available in all centers. So, we're aware of that problem. thing that we do notice here is that patients are really unaware of their risk status. It's not something that is commonly known. And...we've been involved in a few studies where a high percentage of patients have responded that they have no idea. is showing a real need for patient education and also access to this information. And so, that's something that we're starting to work on because...there's a real gap in knowledge there. But in terms of the actual tests, I'll leave it to you guys.

Faith E. Davies, MD:But Katie, coming back to that risk's really important. As Jay said, it's my…pet research area. But with all of the new treatments that are coming along, we know that many patients can really benefit from these therapies. And…we may be thinking about 10, 15 years. But there's also still, unfortunately, a small group of patients [who] maybe will only have 2 or 3 years with their treatment. And so being able to use these risk stratification tools—most often only with looking at the genetics, but also looking at extramedullary disease, etc—is really important...from both a clinician’s perspective for choosing the right treatment, but also the patient's perspective for planning therapy moving forward.

Transcript is AI-generated and edited for clarity and readability.

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