NCCN Guidelines for Patients® | Myelodysplastic Syndromes

21 NCCN Guidelines for Patients ® : Myelodysplastic Syndromes, 2018 Recurrent gene mutations There are certain gene mutations that are quite common in MDS. These are called recurrent gene mutations. DNA sequencing is a type of molecular test that checks for specific gene mutations in cells. Doctors use this test to find out which recurrent gene mutations are present in MDS cells. Certain mutations are linked with a better or worse prognosis. Thus, doctors may test for these common mutations to help plan treatment. PDGFRβ gene mutation Doctors may use molecular tests to look for certain changes to the PDGFRβ ( p latelet- d erived g rowth f actor r eceptor b eta) gene. Changes to this gene sometimes happen in a subtype of MDS called CMML. (See page 11 for details about subtypes.) Certain treatments may work better against CMML that has this gene mutation. Thus, knowing if cells have a PDGFRβ gene mutation can help guide treatment options for some patients. Review † † A medical history, physical exam, and blood tests can reveal signs of cancer. † † Different types of blood tests are done to assess the extent and cause of low blood cell counts. Blood tests are also used to see if you have an illness other than cancer. † † A bone marrow biopsy removes a piece of bone and marrow to test for cancer cells. A bone marrow aspiration removes liquid marrow. These tests are needed to confirm MDS. Tests of bone marrow are also used to assess the prognosis of MDS. † † Genetic tests check for abnormal changes in the genes and chromosomes of MDS cells. They can be used to assess prognosis and guide treatment choices. “ Being diagnosed with a rare disease like Myelodysplastic Syndromes is scary, especially if you’ve never even heard of the disease. Sharing your experience with others who’ve been in a similar situation can be empowering. - Ray 2 Testing for MDS Review