That can be challenging because it takes so much time. But when patients come for a second opinion, we review the outside bone marrow biopsy if we can get it. The work-up for a patient with myelodysplastic syndrome is pretty complex, and we often get patients with their first diagnosis. When they come to see you for a second opinion, you need to confirm the diagnosis, the percentage of blasts, cytogenetics, and molecular alterations. This is a key part of the assessment of our patients. The bottom line is that a second look in our referral center results in changing the diagnosis and, often, the treatment in close to 20 percent of our patients. Sometimes the time from the original visit to the second visit makes the disease change. It’s not to say that the doctors outside Cleveland Clinic or MD Anderson don’t know how to perform these diagnostic procedures, but sometimes these diseases can be complex to diagnose. To my surprise, we found a 15 to 20 percent discrepancy rate between the inside and outside tests. Like the Cleveland Clinic, MD Anderson is basically a referral hospital. This is very important because a number of years ago, we did an analysis here at The University of Texas MD Anderson Cancer Center that questioned whether we should do a bone marrow test on every patient that comes to our center. Sometimes we use something called flow cytometry, which is another way to look at the shape, or paint the cells if you will, to confirm the diagnosis when we are in doubt. This is how we confirm the diagnosis, as do other tests such as the chromosome test and genomic analysis. Those two specimens allow us to look at the shape of the cells, which we call morphology. The other test is a bone marrow biopsy, where we retrieve a little bit of bone from that area with a slightly thicker needle, and it allows us to look at the architecture of the bone marrow. That’s where the stem cells of the bone marrow, which later create the blood, reside. In one, the bone marrow aspirate, we retrieve blood from inside the bone marrow cavity with a relatively thin needle. A bone marrow examination has two different procedures. The bottom line is that the patient will need a test we call a bone marrow examination. Sometimes the patients will present with some inflammatory type of feature, so you might want to make sure there’s no connective tissue disorder or some type of infection. You will test to see if there’s a reason for the anemia, looking for iron deficiency, vitamin B12, and folate, for instance. Seeing that will prompt a number of secondary tests. That is going to tell you if you have a low white blood cell count, if you have anemia-the most common feature that we see in our patients-or if you have low platelets, something that we refer to as thrombocytopenia. Guillermo Garcia-Manero, MD: The standard first test is to do a simple CBC. © 2014 by The American Society of Hematology.Hetty Carraway, MD: When this happens, what is the standard work-up for myelodysplastic syndrome that you recommend for patients with MDS that may help your colleagues in the region? Bone marrow transplantation remains the only cure for PNH but should be reserved for patients with suboptimal response to eculizumab. Eculizumab, a first-in-class monoclonal antibody that inhibits terminal complement, is the treatment of choice for patients with severe manifestations of PNH. In addition, hypomorphic germ-line PIGA mutations that do not cause PNH have been shown to be responsible for a condition known as multiple congenital anomalies-hypotonia-seizures syndrome 2. GPI anchor protein deficiency is almost always due to somatic mutations in phosphatidylinositol glycan class A (PIGA), a gene involved in the first step of GPI anchor biosynthesis however, alternative mutations that cause PNH have recently been discovered. The absence of two glycosylphosphatidylinositol (GPI)-anchored proteins, CD55 and CD59, leads to uncontrolled complement activation that accounts for hemolysis and other PNH manifestations. Paroxysmal nocturnal hemoglobinuria (PNH) is a rare bone marrow failure disorder that manifests with hemolytic anemia, thrombosis, and peripheral blood cytopenias.
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