Refractory Cytopenia with Unilineage Dysplasia



Refractory Cytopenia with Unilineage Dysplasia


Carla S. Wilson, MD, PhD





Key Facts


Terminology



  • MDS disorders characterized by unicytopenia or bicytopenia plus dysplasia


  • Can further specify based on lineage



    • Refractory anemia is most common


    • Refractory neutropenia


    • Refractory thrombocytopenia


  • Dysplasia isolated to a single lineage



    • Involves ≥ 10% of cells in affected cell lineage


    • Usually of same lineage as cytopenia


Clinical Issues



  • Older adults; median age: 65-70 years


  • Low-grade MDS



    • Prolonged and indolent course


    • May require transfusions or erythropoietin therapy


    • Only rare cases progress to acute myeloid leukemia


Microscopic Pathology



  • Peripheral blood



    • < 1% blasts


  • Bone marrow



    • < 5% blasts


    • Unilineage dysplasia


Diagnostic Checklist



  • May be difficult to diagnose based on morphology alone



    • Helpful if clonal cytogenetic abnormality (found in ˜ 50% of cases)


  • If normal karyotype, need to exclude nonclonal causes for cytopenia and dysplasia



    • Evaluate for at least 6 months before establishing diagnosis






The blood film shows macrocytes image and moderate anisocytosis with occasional target cells in this patient with refractory anemia (RA). Red blood cell folate and serum vitamin B12 levels are normal.






This aspirate smear fulfills the criteria for RCUD-RA with ≥ 10% erythroid precursors showing dysplastic features, including asynchronous nuclear:cytoplasmic maturation image and megaloblastic changes.


TERMINOLOGY


Abbreviations



  • Refractory cytopenia with unilineage dysplasia (RCUD)


Definitions



  • Group of myelodysplastic syndromes (MDS) that present with RCUD



    • Refractory anemia (RA) is most common in adults


    • Refractory neutropenia is rare


    • Refractory thrombocytopenia is rare


    • Bicytopenia may be present but not pancytopenia


  • Unilineage dysplasia involves ≥ 10% of cells in affected cell lineage



    • Dysplasia is usually of same lineage as cytopenia


ETIOLOGY/PATHOGENESIS


Environmental Exposure



  • Chemicals or solvents such as benzene


  • Toxins such as cigarette smoke


Acquired Disorder



  • Clonal hematopoietic stem cell disease



    • Increased apoptosis with ineffective hematopoiesis


    • Immune dysregulation plays a role



      • Allows growth of dysplastic clone


CLINICAL ISSUES


Epidemiology



  • Incidence



    • 10-20% of MDS


  • Age



    • Older adults, median age 65-70 years


  • Gender



    • Similar incidence for males and females


Presentation

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Jun 13, 2016 | Posted by in PATHOLOGY & LABORATORY MEDICINE | Comments Off on Refractory Cytopenia with Unilineage Dysplasia

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