Myelodysplastic syndrome pathophysiology: Difference between revisions
Nawal Muazam (talk | contribs) No edit summary |
|||
| Line 27: | Line 27: | ||
*Dysgranulopoiesis | *Dysgranulopoiesis | ||
*Dysmegakaryocytopoiesis | *Dysmegakaryocytopoiesis | ||
===Dyserythropoiesis=== | ====Dyserythropoiesis==== | ||
*Abnormal red blood cell formation | *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) | ||
| Line 36: | Line 36: | ||
:*May be hard to see | :*May be hard to see | ||
*[[Karyorrhexis]] (nuclear fragmentation) | *[[Karyorrhexis]] (nuclear fragmentation) | ||
====Cytoplasmic features==== | =====Cytoplasmic features===== | ||
*[[Sideroblastic anemia|Ring sideroblasts]] | *[[Sideroblastic anemia|Ring sideroblasts]] | ||
:*Rim of RBC has ring of iron | :*Rim of RBC has ring of iron | ||
*Vacuolization | *Vacuolization | ||
===Dysgranulopoiesis=== | ====Dysgranulopoiesis==== | ||
*Abnormal granulocyte formation | *Abnormal granulocyte formation | ||
====Nuclear features==== | =====Nuclear features===== | ||
*Nuclear hypolobation (pseudo Pelger-Huët) | *Nuclear hypolobation (pseudo Pelger-Huët) | ||
*Hypersegmentation | *Hypersegmentation | ||
:*May be seen in [[vitamin B12 deficiency]] | :*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 size | ||
===Dysmegakaryocytopoiesis=== | ====Dysmegakaryocytopoiesis==== | ||
*Abnormal megakaryocyte formation | *Abnormal megakaryocyte formation | ||
====Nuclear features==== | =====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 | ||
==Immunohistochemistry== | ==Immunohistochemistry== | ||
Typical immunohistochemistry in work-up of myelodysplastic syndrome: | Typical immunohistochemistry in work-up of myelodysplastic syndrome: | ||
Revision as of 17:53, 16 December 2015
|
Myelodysplastic syndrome Microchapters |
|
Differentiating Myelodysplastic syndrome from other Diseases |
|---|
|
Diagnosis |
|
Treatment |
|
Case Studies |
|
Myelodysplastic syndrome pathophysiology On the Web |
|
American Roentgen Ray Society Images of Myelodysplastic syndrome pathophysiology |
|
Risk calculators and risk factors for Myelodysplastic syndrome pathophysiology |
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
- 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
- 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
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
- ↑ 1.0 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
- ↑ 2.0 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.