title: Molecular Testing in Patients with Suspected Myelodysplastic Syndromes.
abstract: Myelodysplastic syndromes (MDS) comprise a heterogeneous group of clonal hematologic malignancies characterized by a hypercellular bone marrow and morphologic dysplasia in one or more lineage (i.e., myeloid, erythroid, or megakaryocytic), presenting clinically with leukopenia, anemia, and/or thrombocytopenia and with a propensity to transform to acute myelogenous leukemia. Newer technologies such as next-generation sequencing have allowed better understanding of the genetic landscape in MDS. Nearly 80 % of MDS patients have at least one mutation, and approximately 40 recurrent somatic mutations have been identified to occur in >1 % of cases. Many of these mutations are relevant for prognosis, help with selection of therapy, and/or have specific targeted treatment options. In this article, we will explore the impact of molecular testing on diagnosis, prognosis, and treatment decisions in patients with suspected MDS.
authors.affiliation: Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.|Vanderbilt-Ingram Cancer Center, 2220 Pierce Avenue, 777 Preston Research Building, Nashville, TN, 37232, USA.
authors.forename: Tamara K
authors.initials: TK
authors.lastname: Moyo
authors.affiliation: Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA. michael.savona@vanderbilt.edu.|Vanderbilt-Ingram Cancer Center, 2220 Pierce Avenue, 777 Preston Research Building, Nashville, TN, 37232, USA. michael.savona@vanderbilt.edu.
authors.forename: Michael R
authors.initials: MR
authors.lastname: Savona
mesh_terms: D000964:Antimetabolites, Antineoplastic / Q000627:therapeutic use; D004268:DNA-Binding Proteins / Q000235:genetics / Q000378:metabolism; D049308:Dioxygenases; D004791:Enzyme Inhibitors / Q000627:therapeutic use; D005787:Gene Frequency; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D009190:Myelodysplastic Syndromes / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D010750:Phosphoproteins / Q000235:genetics / Q000378:metabolism; D011379:Prognosis; D011518:Proto-Oncogene Proteins / Q000235:genetics / Q000378:metabolism; D000072260:RNA Splicing Factors / Q000235:genetics / Q000378:metabolism; D012097:Repressor Proteins / Q000235:genetics / Q000378:metabolism; D017422:Sequence Analysis, DNA
chemical_list: C473949:ASXL1 protein, human; D000964:Antimetabolites, Antineoplastic; D004268:DNA-Binding Proteins; D004791:Enzyme Inhibitors; D010750:Phosphoproteins; D011518:Proto-Oncogene Proteins; D000072260:RNA Splicing Factors; D012097:Repressor Proteins; C112491:SF3B1 protein, human; D049308:Dioxygenases; C541081:TET2 protein, human
keywords: Clonal hematopoiesis; Molecular analysis; Myelodysplastic syndromes (MDS)