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Diagnosis Of Myelodysplastic Syndrome (MDS)

Myelodysplastic syndrome (MDS) can be difficult to diagnose.

Many people who are diagnosed with MDS go to their doctor with some or all of the symptoms typical of MDS. Other people are diagnosed with MDS even though they don't have any symptoms. They may go to their doctor for a routine checkup and mild blood-count abnormalities are found in their blood work.

Several other diseases can be confused with MDS, including:

  • aplastic anemia
  • certain leukemias, including acute leukemia and large granular lymphocytic leukemia
  • HIV infection
  • an overactive immune system
  • Proper diagnosis is crucial so that you receive the most-effective treatment for MDS. Often, you will be referred to a hematologist (a doctor who specializes in blood disorders). A definitive diagnosis can be provided only after a specialist called a hematopathologist examines a sample of your bone marrow.

    Blood Tests to Diagnose MDS

    A very basic blood test called a CBC can determine whether the numbers of various types of blood cells are within normal ranges. CBC stands for complete blood count. It is a routine test that is usually done as part of your regular medical checkup or before you have surgery.

    Abnormalities in this test provide the first sign of the disease. In MDS, red blood cell levels may be low, which causes anemia. Platelet levels may also be low, which can cause bleeding and bruising. Low white blood cell levels may lead to infections.

    A hematologist will also look at the blood sample under a microscope in a test called a blood smear. This can identify any abnormal cell shapes and sizes, which can also indicate MDS.

    In addition, tests will be done to look for other causes of low blood counts, including thyroid disease, low vitamin levels, and iron deficiency.

    Bone Marrow Tests to Diagnose MDS

    Myelodysplastic Syndrome (MDS) Doctors & Other Experts

    Select from the list below to learn more about MSK MDS experts, their education, training, board certifications, current publications, and specific areas of expertise.

    Learn more

    If blood tests do not show another reason for the abnormal blood counts, samples of your bone marrow will be examined to look for MDS. Two types of samples are taken. One is called a bone marrow biopsy. It is obtained by removing a small piece of the bone along with the marrow inside the bone. The second sample is called a bone marrow aspirate. It is obtained by drawing out liquid from the bone marrow space.

    Many tests are performed on the bone marrow biopsy and aspirate samples. These tests can help confirm a diagnosis of MDS. For example, a test might show that the cells look abnormal. The tests can also determine the subtype of MDS and help doctors determine the most-effective treatment and prognosis.

    The following tests are performed on bone marrow samples:

  • Cytogenetic studies help determine chromosome changes in bone marrow cells. Each cell in the body contains chromosomes. These are 46 tightly coiled strands of DNA. Chromosomes contain all the information that cells need to function normally. About half of people with MDS have one or more chromosomal changes. The most common abnormalities are seen in chromosomes 5, 7, 8, and 20.
  • Histochemistry studies allow doctors to look at bone marrow cells to determine whether the cells appear abnormal. With these tests, the bone marrow blast count can also be determined. A pathologist can look for other causes of bone marrow malfunction.
  • Flow cytometry passes cells through a laser beam to see whether the bone marrow cells are developing normally and to estimate the blast count.
  • Molecular genetic studies are highly sensitive DNA and RNA tests. These tests determine the specific genetic traits of bone marrow cells.
  • Research Studies

    New diagnostic tests and procedures are emerging as a result of research performed at Memorial Sloan Kettering and at other institutions. Your doctor may ask whether you are willing to have additional blood or bone marrow samples taken for this type of research.

    These tests are not necessary to make a diagnosis of MDS, and they are not required tests. However, research on samples taken from people with MDS is vital to our ongoing efforts to learn more about MDS and to develop better treatments. Talk with your Memorial Sloan Kettering doctor to learn more about research studies.


    Myelodysplastic Syndromes: The Complexity Of Stem-cell Diseases

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    General Hospital's John J. York Gets Candid About Blood And Bone Marrow Disorder Diagnoses

    General Hospital star John J. York opened up about being diagnosed with a blood and bone marrow disorder — and having to take a break on the show he has appeared on since 1991.

    "I said I was going to give you an update on the reason I'm taking a little hiatus from General Hospital and here it is," York, 64 — who portrays Malcolm Scorpio on the daytime soap opera — shared in a video posted to X (formerly Twitter) on Wednesday, September 13. "So last December 2022, I was diagnosed with myelodysplastic syndrome, or MDS, and multiple smoldering myeloma — two blood and bone marrow disorders."

    According to the National Cancer Institute, myelodysplastic syndromes are a group of cancers that occur when immature blood cells in the bone marrow do not become healthy blood cells. Multiple smoldering myeloma is a precancerous condition that alters certain proteins in blood and can increase plasma cells in bone marrow, per the outlet.

    "Over the past many months, I've had three bone marrow biopsies, many chemo treatments — I have another one coming up in a couple of weeks — and I'm closing in on a blood stem cell transplant," the actor continued. "I've been working with some wonderful people at Be the Match in order to find a potential donor on their registry. … I just want to say thanks for all the support over the years. This isn't goodbye, this is just so long. You know I'll have to take a break for at least three, maybe four months, but I'll be back."

    Trista Sutter, Selena Gomez, Ellen DeGeneres and more stars have opened up about their unexpected illnesses and injuries — read more

    On Friday, September 22, York revealed that he has received some promising news in regards to finding a donor.

    "I believe they found a match, a perfect match, which will make me cry," he shared on Good Morning America. "So we're going to start our testing and all that kind of stuff coming up here, in about a week. I believe the transplant will happen in November."

    John J. York and Josh Kelly on 'General Hospital.' ABC/Christine Bartolucci

    York got emotional when talking about what he would say to the potential donor.

    "Thank you for saving my life. For letting me spend more time with my wife, my daughter, my son-in-law, my grandchildren, seeing this beautiful blue sky," he explained.

    News of York's potential donor comes shortly after his General Hospital costar Billy Miller — who appeared as Jason Morgan and Drew Cain on the daytime soap — died by suicide at on Friday, September 15. He was 43. A rep confirmed to Us Weekly that Miller had been struggling with manic depression at the time of his death. Miller's mother, Patricia Miller, shared that her son had battled bipolar depression for years.

    Demi Lovato, Catherine Zeta-Jones, Jon Hamm, Carrie Fisher, and Ashley Judd are among the many celebrities who've admitted to struggling with depression, anxiety, or bipolar disorder

    Following the tragic news, General Hospital star Maurice Benard — who plays Sonny Corinthos on the show — opened up about mental health in an important message to fans.

    "Since the pandemic, I have been speaking out on suicide quite a lot," Bernard, 60, shared via Instagram on Tuesday, September 19. "In the beginning, I was hesitant. I didn't know how people would handle it. But it's been very encouraging so I have not stopped talking about it! It's really hard to understand mental illness unless you have experienced the depths of pain that comes with it."

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    Bernard — who detailed his journey with bipolar disorder in his 2020 memoir, Nothing General About It — continued: "If you know anyone who is going through any kind of darkness, chaos, pain … Just know, all you can do is give them love, patience, understanding, and hopefully professional help if they agree." He concluded the post with a message to anyone suffering:

    "If you're feeling in any kind of way, like life is not worth living for, don't think twice to talk to someone, take it from the most fragile person in the world you can get through it," he wrote. "And life has a way of rewarding you."






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