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Chronic Myeloid Neoplasms

Myelodysplastic syndromes

5q- syndrome


Reviewer: Nikhil Sangle, M.D. (see Reviewers page)
Revised: 11 August 2011, last major update August 2011
Copyright: (c) 2001-2011, PathologyOutlines.com, Inc.

Definition
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● Subtype of refractory anemia with good prognosis
● Stable clinical course but often transfusion dependent causing frequent hemochromatosis
● Usually elderly women
● 10% progress to AML

Laboratory
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● Moderate to severe macrocytic anemia, thrombocytosis in 50%

Treatment
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● Lenalidomide, a thalidomide analogue and immunomodulating drug, has high response rate (N Engl J Med 2006;355:1456)

Micro description
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Bone marrow biopsy: usually hypercellular or normocellular, erythroid hypoplasia, increased clusters of megakaryocytes with abundant cytoplasm but hypolobulated or non-lobated nuclei
Bone marrow smear: reduced erythroblasts, megakaryocyte hyperplasia with nuclear hypolobulation; either granulocyte or megakaryocyte dysplasia but not both, <5% blasts in BM and <1% blasts in PB, no Auer rods

Micro images
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Peripheral blood:

Blast and numerous platelets (platelet count was 567K)

Bone marrow biopsy:

Increased megakaryocytes with overall increased PAS+ cytoplasm, nuclear hypolobulation


Case with JAK2 V617F mutation

Bone marrow smear:

Two small megakaryocytes have granular cytoplasm and nonlobulated nuclei, otherwise classified as RAEB

Molecular
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● Interstitial deletions of 5q12 to 5q32
● If additional cytogenetic abnormalities are present (except loss of Y chromosome), do NOT categorized as 5q- MDS

Cytogenetics images
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Karyotypes

Additional references
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Cancer Genet Cytogenet 1985;17:189, Hematology Am Soc Hematol Educ Program 2006:192, OMIM 153550
Atlas of Genetics and Cytogenetics, Hematology 2004;9:271

End of Chronic Myeloid Neoplasms > Myelodysplastic syndromes > 5q- syndrome


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