Myelodysplastic syndrome pathophysiology

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Nawal Muazam M.D.[2]

Overview

Cytogenetic abnormalities involved in the pathogenesis of myelodysplastic syndrome include isolated deletion of 5q, monosomy 7, and monosomy 8.[1] Myelodysplastic syndrome is associated with Fanconi syndrome, Diamond-Blackfan anemia, Shwachman-Diamond syndrome.[2] There are no characteristic findings of myelodysplastic syndrome on gross pathology. On microscopic histopathological analysis, dyserythropoiesis, dysgranulopoiesis, and dysmegakaryocytopoiesis are findings of myelodysplastic syndrome.[1]

Pathophysiology

Pathogenesis

Myelodysplastic syndrome comprises a heterogeneous group of clonal bone marrow disorders characterized by:[3]

  • Various degrees of pancytopenia
  • Morphological and functional abnormalities of hematopoietic cells
  • Increased risk of transformation into acute myeloid leukemia

Genetics

Cytogenetic abnormalities involved in the pathogenesis of myelodysplastic syndrome include:[1]

  • Isolated deletion of 5q
  • Isolated deletion of 17p
  • Monosomy 7
  • Monosomy 8

Associated conditions

Myelodysplastic syndrome is associated with:[2]

Gross Pathology

There are no characteristic findings of myelodysplastic syndrome on gross pathology.

Microscopic Pathology

On microscopic histopathological analysis, characteristic findings of myelodysplastic syndrome include:[1]

Dyserythropoiesis

  • Abnormal red blood cell formation

Nuclear features

  • Nuclear budding
  • Intranuclear bridging (nuclei fail to separate post-division)
  • Multinucleation
  • Megablastoid change
  • May be hard to see

Cytoplasmic features

  • Rim of RBC has ring of iron
  • Vacuolization

Dysgranulopoiesis

  • Abnormal granulocyte formation

Nuclear features

  • Nuclear hypolobation (pseudo Pelger-Huët)
  • Hypersegmentation

Cytoplasmic features

  • Cytoplasmic hypogranulation
  • Pseudo-Chediak-Higashi granules
  • Small size

Dysmegakaryocytopoiesis

  • Abnormal megakaryocyte formation

Nuclear features

  • Micromegakaryoctes with hypolobated nuclei
  • Non-lobated nuclei of any size
  • Multiple widely separated nuclear lobes

Immunohistochemistry

Typical immunohistochemistry in work-up of myelodysplastic syndrome:

  • CD34 - (myeloid) progenitor/precursor cells
  • CD117 - (myeloid) progenitor/precursor cells, mast cells
  • Tryptase - mast cells, immature basophils
  • Uncommonly done
  • CD61 - megakaryocytes
  • CD42b - megakaryocytes
  • CD20 - B cells
  • CD3 - T cells
  • Glycophorin A - erythroid cells
  • Glycophorin C - erythroid cells

References

  1. 1.0 1.1 1.2 1.3 Cytogenetics of myelodysplastic syndromes. Librepathology (2015). http://librepathology.org/wiki/index.php/Myelodysplastic_syndromes. Accessed on December 8, 2015
  2. 2.0 2.1 Associations of myelodysplastic syndromes. Librepathology (2015). http://librepathology.org/wiki/index.php/Myelodysplastic_syndromes. Accessed on December 8, 2015
  3. Corrêa de Souza, Daiane; de Souza Fernandez, Cecília; Camargo, Adriana; Apa, Alexandre Gustavo; Sobral da Costa, Elaine; Bouzas, Luis Fernando; Abdelhay, Eliana; de Souza Fernandez, Teresa (2014). "Cytogenetic as an Important Tool for Diagnosis and Prognosis for Patients with Hypocellular Primary Myelodysplastic Syndrome". BioMed Research International. 2014: 1–10. doi:10.1155/2014/542395. ISSN 2314-6133.


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