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

Myelodysplastic syndrome comprises a heterogeneous group of clonal bone marrow disorders.[1] 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, and 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]

Pathogenesis

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

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)
  • Dysgranulopoiesis (abnormal granulocyte formation)
  • Dysmegakaryocytopoiesis (abnormal megakaryocyte formation)

Dyserythropoiesis

Nuclear Features
  • Nuclear budding
  • Intranuclear bridging (nuclei fail to separate post-division)
  • Multinucleation
  • Megablastoid changes (may be difficult to observe)
  • Karyorrhexis (nuclear fragmentation)
Cytoplasmic Features

Dysgranulopoiesis

Nuclear Features
  • Nuclear hypolobation (pseudo Pelger-Huët)
  • Nuclear hypersegmentation
Cytoplasmic Features
  • Cytoplasmic hypogranulation
  • Pseudo-Chediak-Higashi granules
  • Small cytoplasmic size

Dysmegakaryocytopoiesis

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

Immunohistochemistry

On immunohistochemistry, characteristic findings of myelodysplastic syndrome include:

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

References

  1. 1.0 1.1 1.2 1.3 1.4 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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