Pediatric Myelodysplastic Syndrome Differential Diagnoses

  • Author: Prasad Mathew, MBBS, DCh; Chief Editor: Robert J Arceci, MD, PhD   more...
 
Updated: Nov 4, 2011
 
 

Diagnostic Considerations

The 2 major diagnostic challenges are distinguishing myelodysplastic syndrome (MDS) with a low blast count from aplastic anemia and other nonclonal bone marrow disorders and differentiating MDS with excess blasts from acute myeloid leukemia (AML). Also consider autoimmune cytopenias and Diamond-Blackfan anemia.

Refractory cytopenia may be difficult to diagnose because bone marrow cellularity is often reduced (as in aplastic anemia), impeding the identification of the often subtle dysplastic changes that may be present. In the absence of a cytogenetic marker, the clinical course must be carefully monitored with repeated bone marrow examinations and biopsies at least 2-3 weeks apart.

Differentiating MDS with increased blast count from de novo AML remains challenging, and thresholds of blast counts (set at 20% or 30%) are arbitrary and may not reflect the biology of these transitional states. De novo AML is chemotherapy-sensitive and is characterized by balanced translocations, such as t(8;21), t(15;17), t(9;11). The usual genetic changes in MDS, typically markers of chemoresistance, are aneuploidy and aberrations in chromosome numbers (eg, monosomy 7).

Thus, individuals with typical cytogenetic abnormalities should be treated as having de novo AML, regardless of the blast count. Note that most patients with MDS have a blast count of less than 20%, whereas the vast majority of children with de novo AML have frankly leukemic marrow. For patients with borderline blast counts, other clinical signs (eg, organomegaly, chloroma, spinal fluid blasts) suggest a diagnosis of de novo AML.

Differential Diagnoses

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Contributor Information and Disclosures
Author

Prasad Mathew, MBBS, DCh  Director, Hemostasis and Hematology Program, Professor of Clinical Pediatrics, University of New Mexico School of Medicine

Prasad Mathew, MBBS, DCh is a member of the following medical societies: American Society of Hematology

Disclosure: Nothing to disclose.

Coauthor(s)

Franklin O Smith III, MD  Marjory J Johnson Endowed Chair in Pediatric Hematology/Oncology, Professor of Pediatrics and Medicine, Division of Hematology/Oncology, University of Cincinnati Cancer Institute; Attending Physician, Blood and Marrow Transplant Program, Cincinnati Children's Hospital Medical Center

Franklin O Smith III, MD is a member of the following medical societies: American Academy of Pediatrics, American Society for Blood and Marrow Transplantation, American Society of Clinical Oncology, American Society of Gene Therapy, American Society of Hematology, American Society of Pediatric Hematology/Oncology, and International Society for Experimental Hematology

Disclosure: Wyeth Research Consulting fee Consulting; Seattle Genetics Other

Glenda H Grawe, MD  Assistant Professor of Pediatrics, Baylor College of Medicine; Attending Physician, Department of Pediatrics, Section of Emergency Medicine, Texas Children's Hospital

Glenda H Grawe, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Emergency Physicians, Harris County Medical Society, Minnesota Medical Association, National Association of EMS Physicians, and Texas Pediatric Society

Disclosure: Draeger Honoraria Review panel membership

Chief Editor

Robert J Arceci, MD, PhD  King Fahd Professor of Pediatric Oncology, Professor of Pediatrics, Oncology and the Cellular and Molecular Medicine Graduate Program, Kimmel Comprehensive Cancer Center at Johns Hopkins University School of Medicine

Robert J Arceci, MD, PhD is a member of the following medical societies: American Association for Cancer Research, American Association for the Advancement of Science, American Pediatric Society, American Society of Hematology, and American Society of Pediatric Hematology/Oncology

Disclosure: Nothing to disclose.

Additional Contributors

Timothy P Cripe, MD, PhD Professor of Pediatrics, Division of Hematology/Oncology, Cincinnati Children's Hospital Medical Center; Clinical Director, Musculoskeletal Tumor Program, Co-Medical Director, Office for Clinical and Translational Research, Cincinnati Children's Hospital Medical Center; Director of Pilot and Collaborative Clinical and Translational Studies Core, Center for Clinical and Translational Science and Training, University of Cincinnati College of Medicine

Timothy P Cripe, MD, PhD is a member of the following medical societies: American Association for the Advancement of Science, American Pediatric Society, American Society of Hematology, American Society of Pediatric Hematology/Oncology, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Kathleen M Sakamoto, MD, PhD Professor and Chief, Division of Hematology-Oncology, Vice-Chair of Research, Mattel Children's Hospital at UCLA; Co-Associate Program Director of the Signal Transduction Program Area, Jonsson Comprehensive Cancer Center, California Nanosystems Institute and Molecular Biology Institute, University of California, Los Angeles, David Geffen School of Medicine

Kathleen M Sakamoto, MD, PhD is a member of the following medical societies: American Society of Hematology, American Society of Pediatric Hematology/Oncology, International Society for Experimental Hematology, Society for Pediatric Research, and Western Society for Pediatric Research

Disclosure: Nothing to disclose.

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

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