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{{Myelodysplastic syndrome}}
{{Myelodysplastic syndrome}}
{{CMG}};{{AE}}{{NM}}
{{CMG}}; {{AE}} {{NM}}
==Overview==
==Overview==
On microscopic histopathological analysis, dyserythropoiesis, dysgranulopoiesis, and dysmegakaryocytopoiesis are findings of myelodysplastic syndrome.<ref name=Librepathology2>Histologic features of myelodysplastic syndromes. Librepathology (2015). http://librepathology.org/wiki/index.php/Myelodysplastic_syndromes. Accessed on December 8, 2015</ref>
Myelodysplastic syndrome comprises a heterogeneous group of clonal [[bone marrow]] disorders.<ref name="Librepathology2">Cytogenetics of myelodysplastic syndromes. Librepathology (2015). http://librepathology.org/wiki/index.php/Myelodysplastic_syndromes. Accessed on December 8, 2015</ref> Cytogenetic abnormalities involved in the pathogenesis of myelodysplastic syndrome include isolated deletion of 5q, monosomy 7, and monosomy 8.<ref name="Librepathology2">Cytogenetics of myelodysplastic syndromes. Librepathology (2015). http://librepathology.org/wiki/index.php/Myelodysplastic_syndromes. Accessed on December 8, 2015</ref> Myelodysplastic syndrome is associated with [[Fanconi syndrome]], [[Diamond-Blackfan syndrome|Diamond-Blackfan anemia]], and [[Shwachman-Diamond syndrome]].<ref name="Librepathology1">Associations of myelodysplastic syndromes. Librepathology (2015). http://librepathology.org/wiki/index.php/Myelodysplastic_syndromes. Accessed on December 8, 2015</ref> There are no characteristic findings of myelodysplastic syndrome on gross pathology. On microscopic histopathological analysis, [[dyserythropoiesis]], dysgranulopoiesis, and dysmegakaryocytopoiesis are findings of myelodysplastic syndrome.<ref name="Librepathology2">Histologic features of myelodysplastic syndromes. Librepathology (2015). http://librepathology.org/wiki/index.php/Myelodysplastic_syndromes. Accessed on December 8, 2015</ref>
==Pathophysiology==
 
==Pathogenesis==
==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.<ref name="Corrêa de Souzade Souza Fernandez2014">{{cite journal|last1=Corrêa de Souza|first1=Daiane|last2=de Souza Fernandez|first2=Cecília|last3=Camargo|first3=Adriana|last4=Apa|first4=Alexandre Gustavo|last5=Sobral da Costa|first5=Elaine|last6=Bouzas|first6=Luis Fernando|last7=Abdelhay|first7=Eliana|last8=de Souza Fernandez|first8=Teresa|title=Cytogenetic as an Important Tool for Diagnosis and Prognosis for Patients with Hypocellular Primary Myelodysplastic Syndrome|journal=BioMed Research International|volume=2014|year=2014|pages=1–10|issn=2314-6133|doi=10.1155/2014/542395}}</ref>
Myelodysplastic syndrome comprises a heterogeneous group of clonal bone marrow disorders characterized by:<ref name="Corrêa de Souzade Souza Fernandez2014">{{cite journal|last1=Corrêa de Souza|first1=Daiane|last2=de Souza Fernandez|first2=Cecília|last3=Camargo|first3=Adriana|last4=Apa|first4=Alexandre Gustavo|last5=Sobral da Costa|first5=Elaine|last6=Bouzas|first6=Luis Fernando|last7=Abdelhay|first7=Eliana|last8=de Souza Fernandez|first8=Teresa|title=Cytogenetic as an Important Tool for Diagnosis and Prognosis for Patients with Hypocellular Primary Myelodysplastic Syndrome|journal=BioMed Research International|volume=2014|year=2014|pages=1–10|issn=2314-6133|doi=10.1155/2014/542395}}</ref>
*Various degrees of [[pancytopenia]]
*Morphological and functional abnormalities of hematopoietic cells
*Increased risk of transformation into [[acute myeloid leukemia]]
 
==Genetics==
==Genetics==
==Associated conditions==
Cytogenetic abnormalities involved in the pathogenesis of myelodysplastic syndrome include:<ref name="Librepathology2">Cytogenetics of myelodysplastic syndromes. Librepathology (2015). http://librepathology.org/wiki/index.php/Myelodysplastic_syndromes. Accessed on December 8, 2015</ref>
Myelodysplastic syndrome may be associated with:<ref name=Librepathology1>Associations of myelodysplastic syndromes. Librepathology (2015). http://librepathology.org/wiki/index.php/Myelodysplastic_syndromes. Accessed on December 8, 2015</ref>
*Isolated deletion of 5q
*Fanconi syndrome
*Isolated deletion of 17p
*Diamond-blackfan syndrome
*Monosomy 7
*Shwachman-diamond syndrome
*Monosomy 8
==Associated Conditions==
Myelodysplastic syndrome is associated with:<ref name="Librepathology1">Associations of myelodysplastic syndromes. Librepathology (2015). http://librepathology.org/wiki/index.php/Myelodysplastic_syndromes. Accessed on December 8, 2015</ref>
*[[Fanconi syndrome]]
*[[Diamond-Blackfan syndrome|Diamond-Blackfan anemia]]
*[[Shwachman-Diamond syndrome]]
==Gross Pathology==
==Gross Pathology==
On gross pathology<ref name=Librepathology>Associations of myelodysplastic syndromes. Librepathology (2015). http://librepathology.org/wiki/index.php/Myelodysplastic_syndromes. Accessed on December 8, 2015</ref>
There are no characteristic findings of myelodysplastic syndrome on gross pathology.
==Microscopic Pathology==
==Microscopic Pathology==
On microscopic histopathological analysis, characteristic findings of myelodysplastic syndrome include:<ref name=Librepathology2>Histologic features of myelodysplastic syndromes. Librepathology (2015). http://librepathology.org/wiki/index.php/Myelodysplastic_syndromes. Accessed on December 8, 2015</ref>
On microscopic histopathological analysis, characteristic findings of myelodysplastic syndrome include:<ref name="Librepathology2">Histologic features of myelodysplastic syndromes. Librepathology (2015). http://librepathology.org/wiki/index.php/Myelodysplastic_syndromes. Accessed on December 8, 2015</ref>
*Dyserythropoiesis
*[[Dyserythropoiesis]] (abnormal red blood cell formation)
*Dysgranulopoiesis
*Dysgranulopoiesis (abnormal granulocyte formation)
*Dysmegakaryocytopoiesis
*Dysmegakaryocytopoiesis (abnormal megakaryocyte formation)
===Dyserythropoiesis===
====Dyserythropoiesis====
*Abnormal red blood cell formation
=====Nuclear Features=====
====Nuclear features====
*Nuclear budding
*Nuclear budding
*Intranuclear bridging (nuclei fail to separate post-division)
*Intranuclear bridging (nuclei fail to separate post-division)
*Multinucleation
*Multinucleation
*Megablastoid change
*Megablastoid changes (may be difficult to observe)
:*May be hard to see
*[[Karyorrhexis]] (nuclear fragmentation)
*Karyorrhexis (nuclear fragmentation)
=====Cytoplasmic Features=====
====Cytoplasmic features====
*[[Sideroblastic anemia|Ring sideroblasts]] (red blood cells are surrounded by a ring of iron)
*Ring sideroblasts
:*Rim of RBC has ring of iron
*Vacuolization
*Vacuolization
===Dysgranulopoiesis===
====Dysgranulopoiesis====
*Abnormal granulocyte formation
=====Nuclear Features=====
====Nuclear features====
*Nuclear hypolobation (pseudo Pelger-Huët)
*Nuclear hypolobation (pseudo Pelger-Huët)
*Hypersegmentation
*Nuclear hypersegmentation
:*May be seen in vitamin B12 deficiency
=====Cytoplasmic Features=====
====Cytoplasmic features====
*Cytoplasmic hypogranulation
*Cytoplasmic hypogranulation
*Pseudo-Chediak-Higashi granules
*Pseudo-Chediak-Higashi granules
*Small size
*Small cytoplasmic size
 
====Dysmegakaryocytopoiesis====
===Dysmegakaryocytopoiesis===
=====Nuclear Features=====
*Abnormal megakaryocyte formation
====Nuclear features====
*Micromegakaryoctes with hypolobated nuclei
*Micromegakaryoctes with hypolobated nuclei
*Non-lobated nuclei of any size
*Non-lobated nuclei of any size
*Multiple widely separated nuclear lobes
*Multiple widely separated nuclear lobes
===Gallery===
==Immunohistochemistry==
==Immunohistochemistry==
On immunohistochemistry, characteristic findings of myelodysplastic syndrome include:
On immunohistochemistry, characteristic findings of myelodysplastic syndrome include:
*CD34 - (myeloid) progenitor/precursor cells
*CD34 positive- (myeloid) progenitor/precursor cells
*CD117 - (myeloid) progenitor/precursor cells, mast cells
*CD117 positive- (myeloid) progenitor/precursor cells, mast cells
*Tryptase - mast cells, immature basophils
*Tryptase positive- mast cells, immature basophils
:*Uncommonly done
*CD61 positive- megakaryocytes
*CD61 - megakaryocytes
*CD42b positive- megakaryocytes
*CD42b - megakaryocytes
*CD20 positive- B cells
*CD20 - B cells
*CD3 positive- T cells
*CD3 - T cells
*Glycophorin A positive- erythroid cells
*Glycophorin A - erythroid cells
*Glycophorin C positive- erythroid cells
*Glycophorin C - erythroid cells
==References==
==References==
{{reflist|2}}
{{reflist|2}}
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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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