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, isolated deletion of 17p, monosomy 7, and monosomy 8.[1] 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 various degrees of pancytopenia and morphological and functional abnormalities of hematopoietic cells and an increased risk of transformation into acute myeloid leukemia.[2]

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 may be associated with:[3]

  • Fanconi syndrome
  • Diamond-blackfan syndrome
  • Shwachman-diamond syndrome

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
  • Dysgranulopoiesis
  • Dysmegakaryocytopoiesis

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
  • Karyorrhexis (nuclear fragmentation)

Cytoplasmic features

  • Ring sideroblasts
  • Rim of RBC has ring of iron
  • Vacuolization

Dysgranulopoiesis

  • Abnormal granulocyte formation

Nuclear features

  • Nuclear hypolobation (pseudo Pelger-Huët)
  • Hypersegmentation
  • May be seen in vitamin B12 deficiency

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

Gallery

Immunohistochemistry

On immunohistochemistry, characteristic findings of myelodysplastic syndrome include:

  • 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. 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.
  3. Associations of myelodysplastic syndromes. Librepathology (2015). http://librepathology.org/wiki/index.php/Myelodysplastic_syndromes. Accessed on December 8, 2015


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