Bone marrow neoplastic
Bone marrow - neoplastic myeloid
Myelodysplastic syndromes (MDS)
Isolated del(5q)

Topic Completed: 1 August 2011

Minor changes: 14 December 2020

Copyright: 2002-2021,, Inc.

PubMed Search: Isolated del(5q)

Nikhil Sangle, M.D.
Page views in 2020: 815
Page views in 2021 to date: 30
Cite this page: Sangle N. Isolated del(5q). website. Accessed January 20th, 2021.
Definition / general
  • Subtype of refractory anemia with good prognosis
  • Stable clinical course but often transfusion dependent causing frequent hemochromatosis
  • Usually elderly women
  • 10% progress to AML
  • Moderate to severe macrocytic anemia, thrombocytosis in 50%
Microscopic (histologic) description
  • Bone marrow biopsy: usually hypercellular or normocellular, erythroid hypoplasia, increased clusters of megakaryocytes with abundant cytoplasm but hypolobulated or nonlobated 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
Microscopic (histologic) images

AFIP images

Peripheral blood:

Blast and numerous platelets (platelet count was 567K)

Bone marrow biopsy:

Increased megakaryocytes
with overall increased
PAS+ cytoplasm,
nuclear hypolobulation

Bone marrow smear:

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

Molecular / cytogenetics description
  • Interstitial deletions of 5q12 to 5q32
  • Cytogenetic abnormality occurs either in isolation or with one other cytogenetic abnormality, other than monosomy 7 or del(7q) (WHO 2017)
Molecular / cytogenetics images

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