What testing should be done to confirm a myelodysplastic syndromes diagnosis?

What testing should be done to confirm an MDS diagnosis? If you're somebody who has low blood counts, your doctor will often look for common causes of low blood counts. So for example, an older adult, someone in her 70s or 80s who has anemia, if I'm a primary care doctor, I'm not immediately going to jump and say that person has myelodysplastic syndromes. I might think, gee, maybe that person has some blood loss from their GI tract and an initial test I might do is a colonoscopy. I might check for vitamin deficiencies, vitamin B12, folate, iron deficiencies, those are associated with anemia, particularly in older adults. I might think about thyroid tests or autoimmune disorders that can be associated with anemia. I'm going to eliminate all of those as possibilities before I then say this person should see a hematologist and get a bone marrow biopsy. A diagnosis of myelodysplastic syndrome cannot be made without a bone marrow biopsy. So if that test is performed and it shows abnormal looking cells, myelodysplastic means myeloid cells, bone marrow cells that are dysplastic, bad growing, that test has to show abnormal myeloid cells. It shows typical mutations in those cells that are associated with myelodysplastic syndromes. And when we talk about mutations, we're talking about things that occur in the cells that cause them to look abnormal, most of the time not mutations that are passed down to kids and grandkids. So some people say, well, I have MDS because I have low platelets. No, the only way you can diagnose for sure, although we might move beyond that with all this genetic testing, but you have to have a bone marrow biopsy and you try to get a good core biopsy and an aspirate, which is the liquid part with the spicules that then become your blood cells out in the peripheral blood. And the pathologists look for dysplasia in those cell lines. So you have three main lineages, white blood cells, red blood cells, and platelets. And so the pathologist looks for dysplastic cells or cells that don't look like they should and they don't function like they should. And they don't grow up and become mature functioning blood cells out in the peripheral blood. But they so usually have to have at least 10% dysplastic dysplasia and it can be either white blood cells, red blood cells or platelets. If it's one lineage like red cells, then it's unilineage dysplasia. But if it's in the reds and platelets or reds and whites, then it's multilineage dysplasia. But they're looking for that dysplastic cell that doesn't look or function like a normal cell should. And so that's you need a bone marrow biopsy with an aspiration. And we also do something called cytogenetics where you let the dividing, you let the cells naturally divide and then they do what's called a karyotype. And the karyotype is the each of the chromosomes including the sex chromosome and then they line them up and they see if there's any missing pieces or translocations or extra copies. So cytogenetics are done on the bone marrow. If you can't get a good aspirate, you might not be able to get cytogenetics. And in that case, we do a test called FISH, which is fluorescence in situ hybridization. It's a big word, but you have to tell them what you're fishing for. So you're fishing for MDS and they run, they have like colors for the different chromosomes and they check for the most common cytogenetic abnormalities that are associated with MDS, which would be like deletion of the long arm of chromosome 5, 5q deletion, deletion of 7, either all of 7 or parts of chromosome 7. So our panel will do a FISH for MDS and then we also do myeloid mutation panels. So lots of tests on that actual bone marrow sample, but you need a bone marrow biopsy with aspiration. And then you also need this complete blood cell count with differential because the pathologists will look at what's going on in the bone marrow and then compare it to what actually become functioning cells. So they have a hypercellular bone marrow and then they have anemia. So lots of activity, but it doesn't mature and become functioning.