Myelodysplastic syndrome pathophysiology: Difference between revisions
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{{CMG}}; {{AE}} {{NM}} | {{CMG}}; {{AE}} {{NM}} | ||
==Overview== | ==Overview== | ||
Cytogenetic abnormalities involved in the pathogenesis of myelodysplastic syndrome include isolated deletion of 5q | 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> | ||
==Pathogenesis== | ==Pathogenesis== | ||
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> | 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]] | *Various degrees of [[pancytopenia]] | ||
*Morphological and functional abnormalities of hematopoietic cells | *Morphological and functional abnormalities of hematopoietic cells | ||
*Increased risk of transformation into acute myeloid leukemia | *Increased risk of transformation into [[acute myeloid leukemia]] | ||
==Genetics== | ==Genetics== | ||
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> | 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> | ||
*Isolated deletion of 5q | *Isolated deletion of 5q | ||
*Isolated deletion of 17p | *Isolated deletion of 17p | ||
*Monosomy 7 | *Monosomy 7 | ||
*Monosomy 8 | *Monosomy 8 | ||
==Associated | ==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> | 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]] | *[[Fanconi syndrome]] | ||
*[[Diamond-Blackfan syndrome|Diamond-Blackfan anemia]] | *[[Diamond-Blackfan syndrome|Diamond-Blackfan anemia]] | ||
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There are no characteristic findings of myelodysplastic syndrome on gross pathology. | 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==== | ||
=====Nuclear Features===== | |||
====Nuclear | |||
*Nuclear budding | *Nuclear budding | ||
*Intranuclear bridging (nuclei fail to separate post-division) | *Intranuclear bridging (nuclei fail to separate post-division) | ||
*Multinucleation | *Multinucleation | ||
*Megablastoid | *Megablastoid changes (may be difficult to observe) | ||
*[[Karyorrhexis]] (nuclear fragmentation) | |||
*Karyorrhexis (nuclear fragmentation) | =====Cytoplasmic Features===== | ||
====Cytoplasmic | *[[Sideroblastic anemia|Ring sideroblasts]] (red blood cells are surrounded by a ring of iron) | ||
*Ring sideroblasts | |||
*Vacuolization | *Vacuolization | ||
===Dysgranulopoiesis=== | ====Dysgranulopoiesis==== | ||
=====Nuclear Features===== | |||
====Nuclear | |||
*Nuclear hypolobation (pseudo Pelger-Huët) | *Nuclear hypolobation (pseudo Pelger-Huët) | ||
* | *Nuclear hypersegmentation | ||
=====Cytoplasmic Features===== | |||
====Cytoplasmic | |||
*Cytoplasmic hypogranulation | *Cytoplasmic hypogranulation | ||
*Pseudo-Chediak-Higashi granules | *Pseudo-Chediak-Higashi granules | ||
*Small size | *Small cytoplasmic size | ||
===Dysmegakaryocytopoiesis=== | ====Dysmegakaryocytopoiesis==== | ||
=====Nuclear Features===== | |||
====Nuclear | |||
*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 | ||
==Immunohistochemistry== | ==Immunohistochemistry== | ||
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 | ||
*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]
- 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)
- 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
- Ring sideroblasts (red blood cells are surrounded by a ring of iron)
- Vacuolization
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
- ↑ 1.0 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
- ↑ 2.0 2.1 Associations of myelodysplastic syndromes. Librepathology (2015). http://librepathology.org/wiki/index.php/Myelodysplastic_syndromes. Accessed on December 8, 2015
- ↑ 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.