Myelodysplastic syndrome overview: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Myelodysplastic syndrome}} | {{Myelodysplastic syndrome}} | ||
{{CMG}}; {{AE}} {{NM}} | {{CMG}}; {{AE}} {{NM}}{{ADS}} | ||
==Overview== | ==Overview== | ||
The '''myelodysplastic syndromes''' was first described in 1900 by Leube. | The '''myelodysplastic syndromes''' was first described in 1900 by Leube. Myelodysplastic syndromes may be classified into several subtypes based on the [[French-American-British classification|French-American-British (FAB) classification]] and the [[World Health Organization]] (WHO) classification methods. Cytogenetic abnormalities involved in the pathogenesis of myelodysplastic syndrome include isolated deletion of 5q, monosomy 7, and monosomy 8. Myelodysplastic syndrome is associated with [[Fanconi syndrome]], [[Diamond-Blackfan syndrome|Diamond-Blackfan anemia]], [[Shwachman-Diamond syndrome]]. There are no characteristic findings of myelodysplastic syndrome on gross pathology. On microscopic histopathological analysis, [[dyserythropoiesis]], dysgranulopoiesis, and dysmegakaryocytopoiesis are findings of myelodysplastic syndrome. There are no known direct causes for primary myelodysplastic syndrome. Common risk factors for secondary myelodysplastic syndrome can be found [[Myelodysplastic syndrome risk factors|'''here''']]. Myelodysplastic syndrome must be differentiated from other diseases that cause [[anemia]], [[neutropenia]], and [[thrombocytopenia]], such as: [[aplastic anemia]], [[fanconi anemia]], [[pure red cell aplasia]], [[Shwachman-Diamond syndrome]], [[paroxysmal nocturnal hemoglobinuria]], [[parvovirus B19|parovirus B19 infection]], and [[Vitamin B12|vitamin B12 defeciency]]. The incidence of myelodysplastic syndrome is approximately 4.4 to 4.6 cases per 100,000 individuals in the United States. Myelodysplastic syndrome commonly affects older patients. Males are more commonly affected with myelodysplastic syndrome than females. Myelodysplastic syndrome usually affects individuals of the Caucasian race. Common risk factors in the development of myelodysplastic syndrome are past treatment with [[chemotherapy]], [[radiation therapy]], past exposure to [[tobacco smoke]], [[ionizing radiation]], [[organic chemicals]], and [[heavy metals]]. If left untreated, a high percentage of patients with myelodysplastic syndrome may progress to develop [[acute myeloid leukemia]] or die due to [[bone marrow failure]]. Common complications of myelodysplasia include progression to acute myeloid leukemia, bone marrow failure, [[infection]], [[hemorrhage]], and [[iron overload]]. [[Prognosis]] is generally poor, and the 5-year survival rate of patients with high IPSS score myelodysplastic syndrome is approximately 55%. Symptoms of myelodysplastic syndrome include [[bleeding]], [[easy bruising]], [[shortness of breath]], [[weakness]], and [[fatigue]]. Common physical examination findings of myelodysplastic syndrome include [[pallor]], [[hepatomegaly]], [[splenomegaly]], [[lymphadenopathy]], [[fever]], and [[petechiae]]. Laboratory findings consistent with the diagnosis of myelodysplastic syndrome include abnormal [[complete blood count]], [[peripheral blood smear]], cytogenetic analysis, [[immunohistochemistry]], and [[bone marrow biopsy]]. Chemotherapy is recommended among all patients who develop myelodysplastic syndrome. Surgery is not the first-line treatment option for patients with myelodysplastic syndrome. Stem cell transplantation is usually reserved for patients who are either young or those with high-risk MDS. | ||
==Historical Perspective== | ==Historical Perspective== | ||
Myelodysplastic syndrome was first described in 1900 by Leube.<ref name="Nimer2008">{{cite journal|last1=Nimer|first1=S. D.|title=Myelodysplastic syndromes|journal=Blood|volume=111|issue=10|year=2008|pages=4841–4851|issn=0006-4971|doi=10.1182/blood-2007-08-078139}}</ref> | Myelodysplastic syndrome was first described in 1900 by Leube.<ref name="Nimer2008">{{cite journal|last1=Nimer|first1=S. D.|title=Myelodysplastic syndromes|journal=Blood|volume=111|issue=10|year=2008|pages=4841–4851|issn=0006-4971|doi=10.1182/blood-2007-08-078139}}</ref> | ||
==Classification== | ==Classification== | ||
Myelodysplastic syndrome may be classified into several subtypes based on the [[French-American-British classification|French-American-British (FAB) classification]] and the [[World Health Organization]] (WHO) classification methods.<ref name=radiopaedia>Classification of myelodysplastic syndrome. Radiopaedia (2015). http://radiopaedia.org/articles/myelodysplastic-syndrome. Accessed on December 7, 2015</ref><ref name=cancergov2>Pathologic systems of myelodysplastic syndrome. National Cancer Institute (2015). http://www.cancer.gov/types/myeloproliferative/hp/myelodysplastic-treatment-pdq/#link/_204_toc. Accessed on December 7, 2015</ref><ref name=wikipedia>French-American-British (FAB) classification of myelodysplastic syndrome. Wikipedia (2015). https://en.wikipedia.org/wiki/Myelodysplastic_syndrome. Accessed on December 7, 2015</ref><ref name=wikiWHO>World Health Organization classification of myelodysplastic syndrome. Wikipedia (2015). https://en.wikipedia.org/wiki/Myelodysplastic_syndrome. Accessed on December 8, 2015</ref> | Myelodysplastic syndrome may be classified into several subtypes based on the [[French-American-British classification|French-American-British (FAB) classification]] and the [[World Health Organization]] (WHO) classification methods.<ref name="radiopaedia">Classification of myelodysplastic syndrome. Radiopaedia (2015). http://radiopaedia.org/articles/myelodysplastic-syndrome. Accessed on December 7, 2015</ref><ref name="cancergov2">Pathologic systems of myelodysplastic syndrome. National Cancer Institute (2015). http://www.cancer.gov/types/myeloproliferative/hp/myelodysplastic-treatment-pdq/#link/_204_toc. Accessed on December 7, 2015</ref><ref name="wikipedia">French-American-British (FAB) classification of myelodysplastic syndrome. Wikipedia (2015). https://en.wikipedia.org/wiki/Myelodysplastic_syndrome. Accessed on December 7, 2015</ref><ref name="wikiWHO">World Health Organization classification of myelodysplastic syndrome. Wikipedia (2015). https://en.wikipedia.org/wiki/Myelodysplastic_syndrome. Accessed on December 8, 2015</ref> | ||
==Pathophysiology== | ==Pathophysiology== | ||
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]], [[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> | 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]], [[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> | ||
==Causes== | ==Causes== | ||
There are no known direct causes for primary myelodysplastic syndrome. Common risk factors for secondary myelodysplastic syndrome can be found [[Myelodysplastic syndrome risk factors|'''here''']].<ref name=cancerca>Risk factors of myelodysplastic syndrome. National Cancer Institute (2015). http://www.cancer.ca/en/cancer-information/cancer-type/leukemia/leukemia/myelodysplastic-syndromes/?region=on. Accessed on December 16, 2015</ref> | There are no known direct causes for primary myelodysplastic syndrome. Common risk factors for secondary myelodysplastic syndrome can be found [[Myelodysplastic syndrome risk factors|'''here''']].<ref name="cancerca">Risk factors of myelodysplastic syndrome. National Cancer Institute (2015). http://www.cancer.ca/en/cancer-information/cancer-type/leukemia/leukemia/myelodysplastic-syndromes/?region=on. Accessed on December 16, 2015</ref> | ||
==Differentiating Myelodysplastic syndrome from other Diseases== | ==Differentiating Myelodysplastic syndrome from other Diseases== | ||
Myelodysplastic syndrome must be differentiated from other diseases that cause [[anemia]], [[neutropenia]], and [[thrombocytopenia]], such as: [[aplastic anemia]], [[fanconi anemia]], [[pure red cell aplasia]], [[Shwachman-Diamond syndrome]], [[paroxysmal nocturnal hemoglobinuria]], [[parvovirus B19|parovirus B19 infection]], and [[Vitamin B12|vitamin B12 defeciency]].<ref name=Librepathology3>Differential diagnosis of myelodysplastic syndromes. Librepathology (2015). http://librepathology.org/wiki/index.php/Myelodysplastic_syndromes. Accessed on December 9, 2015</ref><ref name="MerrillSmith2011">{{cite journal|last1=Merrill|first1=Andrea L.|last2=Smith|first2=Hedy|title=Myelodysplastic Syndrome and Autoimmunity: A Case Report of an Unusual Presentation of Myelodysplastic Syndrome|journal=Case Reports in Hematology|volume=2011|year=2011|pages=1–4|issn=2090-6560|doi=10.1155/2011/560106}}</ref><ref name="DeZernSekeres2014">{{cite journal|last1=DeZern|first1=A. E.|last2=Sekeres|first2=M. A.|title=The Challenging World of Cytopenias: Distinguishing Myelodysplastic Syndromes From Other Disorders of Marrow Failure|journal=The Oncologist|volume=19|issue=7|year=2014|pages=735–745|issn=1083-7159|doi=10.1634/theoncologist.2014-0056}}</ref> | Myelodysplastic syndrome must be differentiated from other diseases that cause [[anemia]], [[neutropenia]], and [[thrombocytopenia]], such as: [[aplastic anemia]], [[fanconi anemia]], [[pure red cell aplasia]], [[Shwachman-Diamond syndrome]], [[paroxysmal nocturnal hemoglobinuria]], [[parvovirus B19|parovirus B19 infection]], and [[Vitamin B12|vitamin B12 defeciency]].<ref name="Librepathology3">Differential diagnosis of myelodysplastic syndromes. Librepathology (2015). http://librepathology.org/wiki/index.php/Myelodysplastic_syndromes. Accessed on December 9, 2015</ref><ref name="MerrillSmith2011">{{cite journal|last1=Merrill|first1=Andrea L.|last2=Smith|first2=Hedy|title=Myelodysplastic Syndrome and Autoimmunity: A Case Report of an Unusual Presentation of Myelodysplastic Syndrome|journal=Case Reports in Hematology|volume=2011|year=2011|pages=1–4|issn=2090-6560|doi=10.1155/2011/560106}}</ref><ref name="DeZernSekeres2014">{{cite journal|last1=DeZern|first1=A. E.|last2=Sekeres|first2=M. A.|title=The Challenging World of Cytopenias: Distinguishing Myelodysplastic Syndromes From Other Disorders of Marrow Failure|journal=The Oncologist|volume=19|issue=7|year=2014|pages=735–745|issn=1083-7159|doi=10.1634/theoncologist.2014-0056}}</ref> | ||
==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
The incidence of myelodysplastic syndrome is approximately 4.4 to 4.6 cases per 100,000 individuals in the United States.<ref name=cancergov> | The incidence of myelodysplastic syndrome is approximately 4.4 to 4.6 cases per 100,000 individuals in the United States.<ref name="cancergov">Risk factors of myelodysplastic syndrome. National Cancer Institute (2015). http://www.cancer.gov/types/liver/hp/child-liver-treatment-pdq#link/_570_toc. Accessed on December 7, 2015</ref> Myelodysplastic syndrome commonly affects older patients.<ref name="cancergov">Clinical features of myelodysplastic syndromes. National Cancer Institute 2015. http://www.cancer.gov/types/myeloproliferative/hp/myelodysplastic-treatment-pdq#link/_291_toc. Accessed on December 3, 2015</ref> Males are more commonly affected with myelodysplastic syndrome than females.<ref name="cancergov">Incidence and mortality of myelodysplastic syndromes. National Cancer Institute 2015. http://www.cancer.gov/types/myeloproliferative/hp/myelodysplastic-treatment-pdq#link/_291_toc. Accessed on December 3, 2015</ref> Myelodysplastic syndrome usually affects individuals of the Caucasian race.<ref name="cancergov">Incidence and mortality of myelodysplastic syndromes. National Cancer Institute 2015. http://www.cancer.gov/types/myeloproliferative/hp/myelodysplastic-treatment-pdq#link/_291_toc. Accessed on December 3, 2015</ref> | ||
==Risk Factors== | ==Risk Factors== | ||
Common risk factors in the development of myelodysplastic syndrome are past treatment with [[chemotherapy]], [[radiation therapy]], past exposure to [[tobacco smoke]], [[ionizing radiation]], [[organic chemicals]], and [[heavy metals]].<ref name=cancergov>Risk factors of myelodysplastic syndrome. National Cancer Institute (2015). http://www.cancer.gov/types/liver/hp/child-liver-treatment-pdq#link/_570_toc. Accessed on December 7, 2015</ref> | Common risk factors in the development of myelodysplastic syndrome are past treatment with [[chemotherapy]], [[radiation therapy]], past exposure to [[tobacco smoke]], [[ionizing radiation]], [[organic chemicals]], and [[heavy metals]].<ref name="cancergov">Risk factors of myelodysplastic syndrome. National Cancer Institute (2015). http://www.cancer.gov/types/liver/hp/child-liver-treatment-pdq#link/_570_toc. Accessed on December 7, 2015</ref> | ||
==Screening== | ==Screening== | ||
According to the United States Preventive Services Task Force, there is insufficient evidence to recommend routine screening for myelodysplastic syndrome.<ref name=USPSTF>Myelodysplastic syndrome. USPSTF. http://www.uspreventiveservicestaskforce.org/BrowseRec/Search?s=myelodysplastic+syndrome Accessed on December 9, 2015</ref> | According to the United States Preventive Services Task Force, there is insufficient evidence to recommend routine screening for myelodysplastic syndrome.<ref name="USPSTF">Myelodysplastic syndrome. USPSTF. http://www.uspreventiveservicestaskforce.org/BrowseRec/Search?s=myelodysplastic+syndrome Accessed on December 9, 2015</ref> | ||
==Natural History, Complications and Prognosis== | ==Natural History, Complications and Prognosis== | ||
If left untreated, a high percentage of patients with myelodysplastic syndrome may progress to develop [[acute myeloid leukemia]] or die due to [[bone marrow failure]].<ref name="NatelsonPyatt2013">{{cite journal|last1=Natelson|first1=Ethan A.|last2=Pyatt|first2=David|title=Acquired Myelodysplasia or Myelodysplastic Syndrome: Clearing the Fog|journal=Advances in Hematology|volume=2013|year=2013|pages=1–11|issn=1687-9104|doi=10.1155/2013/309637}}</ref> Common complications of myelodysplasia include progression to acute myeloid leukemia, bone marrow failure, [[infection]], [[hemorrhage]], and [[iron overload]].<ref name="NatelsonPyatt2013">{{cite journal|last1=Natelson|first1=Ethan A.|last2=Pyatt|first2=David|title=Acquired Myelodysplasia or Myelodysplastic Syndrome: Clearing the Fog|journal=Advances in Hematology|volume=2013|year=2013|pages=1–11|issn=1687-9104|doi=10.1155/2013/309637}}</ref> [[Prognosis]] is generally poor, and the 5-year survival rate of patients with high IPSS score myelodysplastic syndrome is approximately 55%.<ref name=cancergov3>Prognostic Scoring Systems of myelodysplastic syndrome. National Cancer Institute (2015). http://www.cancer.gov/types/myeloproliferative/hp/myelodysplastic-treatment-pdq/#link/_204_toc. Accessed on December 11, 2015</ref> | If left untreated, a high percentage of patients with myelodysplastic syndrome may progress to develop [[acute myeloid leukemia]] or die due to [[bone marrow failure]].<ref name="NatelsonPyatt2013">{{cite journal|last1=Natelson|first1=Ethan A.|last2=Pyatt|first2=David|title=Acquired Myelodysplasia or Myelodysplastic Syndrome: Clearing the Fog|journal=Advances in Hematology|volume=2013|year=2013|pages=1–11|issn=1687-9104|doi=10.1155/2013/309637}}</ref> Common complications of myelodysplasia include progression to acute myeloid leukemia, bone marrow failure, [[infection]], [[hemorrhage]], and [[iron overload]].<ref name="NatelsonPyatt2013">{{cite journal|last1=Natelson|first1=Ethan A.|last2=Pyatt|first2=David|title=Acquired Myelodysplasia or Myelodysplastic Syndrome: Clearing the Fog|journal=Advances in Hematology|volume=2013|year=2013|pages=1–11|issn=1687-9104|doi=10.1155/2013/309637}}</ref> [[Prognosis]] is generally poor, and the 5-year survival rate of patients with high IPSS score myelodysplastic syndrome is approximately 55%.<ref name="cancergov3">Prognostic Scoring Systems of myelodysplastic syndrome. National Cancer Institute (2015). http://www.cancer.gov/types/myeloproliferative/hp/myelodysplastic-treatment-pdq/#link/_204_toc. Accessed on December 11, 2015</ref> | ||
==Diagnosis== | ==Diagnosis== | ||
===History and symptoms=== | ===History and symptoms=== | ||
Symptoms of myelodysplastic syndrome include [[bleeding]], [[easy bruising]], [[shortness of breath]], [[weakness]], and [[fatigue]].<ref name=cancergov>Clinical features of myelodysplastic syndromes. National Cancer Institute 2015. http://www.cancer.gov/types/myeloproliferative/hp/myelodysplastic-treatment-pdq#link/_291_toc. Accessed on December 3, 2015</ref><ref name="MerrillSmith2011">{{cite journal|last1=Merrill|first1=Andrea L.|last2=Smith|first2=Hedy|title=Myelodysplastic Syndrome and Autoimmunity: A Case Report of an Unusual Presentation of Myelodysplastic Syndrome|journal=Case Reports in Hematology|volume=2011|year=2011|pages=1–4|issn=2090-6560|doi=10.1155/2011/560106}}</ref> | Symptoms of myelodysplastic syndrome include [[bleeding]], [[easy bruising]], [[shortness of breath]], [[weakness]], and [[fatigue]].<ref name="cancergov">Clinical features of myelodysplastic syndromes. National Cancer Institute 2015. http://www.cancer.gov/types/myeloproliferative/hp/myelodysplastic-treatment-pdq#link/_291_toc. Accessed on December 3, 2015</ref><ref name="MerrillSmith2011">{{cite journal|last1=Merrill|first1=Andrea L.|last2=Smith|first2=Hedy|title=Myelodysplastic Syndrome and Autoimmunity: A Case Report of an Unusual Presentation of Myelodysplastic Syndrome|journal=Case Reports in Hematology|volume=2011|year=2011|pages=1–4|issn=2090-6560|doi=10.1155/2011/560106}}</ref> | ||
===Physical Examination=== | ===Physical Examination=== | ||
Common physical examination findings of myelodysplastic syndrome include [[pallor]], [[hepatomegaly]], [[splenomegaly]], [[lymphadenopathy]], [[fever]], and [[petechiae]].<ref name=cancergov4>Clinical features of myelodysplastic syndromes. National Cancer Institute (2015). http://www.cancer.gov/types/myeloproliferative/patient/myelodysplastic-treatment-pdq. Accessed on December 13, 2015</ref> | Common physical examination findings of myelodysplastic syndrome include [[pallor]], [[hepatomegaly]], [[splenomegaly]], [[lymphadenopathy]], [[fever]], and [[petechiae]].<ref name="cancergov4">Clinical features of myelodysplastic syndromes. National Cancer Institute (2015). http://www.cancer.gov/types/myeloproliferative/patient/myelodysplastic-treatment-pdq. Accessed on December 13, 2015</ref> | ||
===Laboratory Findings=== | ===Laboratory Findings=== | ||
Laboratory findings consistent with the diagnosis of myelodysplastic syndrome include abnormal [[complete blood count]], [[peripheral blood smear]], cytogenetic analysis, [[immunohistochemistry]], and [[bone marrow biopsy]].<ref name=cancergov5>Tests to examine and diagnose myelodysplastic syndromes. National Cancer Institute 2015. http://www.cancer.gov/types/myeloproliferative/patient/myelodysplastic-treatment-pdq. Accessed on December 14, 2015</ref><ref name=Macrocytosis>Causes of macrocytosis. Wikipedia (2015). https://en.wikipedia.org/wiki/Macrocytosis. Accessed on December 14, 2015</ref><ref name=Basophilic>Basophilic stippling. Wikipedia (2015). https://en.wikipedia.org/wiki/Basophilic_stippling. Accessed on December 14, 2015</ref><ref name=Howell>Causes of Howell-Jolly body. Wikipedia (2015). https://en.wikipedia.org/wiki/Howell%E2%80%93Jolly_body. Accessed on December 14, 2015</ref><ref name=Pseudopelger>Acquired or pseudo-Pelger-Huët anomaly. Wikipedia (2015). https://en.wikipedia.org/wiki/Pelger%E2%80%93Huet_anomaly. Accessed on December 14, 2015</ref><ref name=Librepathology2>Cytogenetics of myelodysplastic syndromes. Librepathology (2015). http://librepathology.org/wiki/index.php/Myelodysplastic_syndromes. Accessed on December 8, 2015</ref><ref name="Haase2008">{{cite journal|last1=Haase|first1=Detlef|title=Cytogenetic features in myelodysplastic syndromes|journal=Annals of Hematology|volume=87|issue=7|year=2008|pages=515–526|issn=0939-5555|doi=10.1007/s00277-008-0483-y}}</ref><ref name="TricotWolf-Peeters1984">{{cite journal|last1=Tricot|first1=G.|last2=Wolf-Peeters|first2=C. De|last3=Hendrickx|first3=B.|last4=Verwilghen|first4=R. L.|title=Bone marrow histology in myelodysplastic syndromes.|journal=British Journal of Haematology|volume=57|issue=3|year=1984|pages=423–430|issn=0007-1048|doi=10.1111/j.1365-2141.1984.tb02916.x}}</ref> | Laboratory findings consistent with the diagnosis of myelodysplastic syndrome include abnormal [[complete blood count]], [[peripheral blood smear]], cytogenetic analysis, [[immunohistochemistry]], and [[bone marrow biopsy]].<ref name="cancergov5">Tests to examine and diagnose myelodysplastic syndromes. National Cancer Institute 2015. http://www.cancer.gov/types/myeloproliferative/patient/myelodysplastic-treatment-pdq. Accessed on December 14, 2015</ref><ref name="Macrocytosis">Causes of macrocytosis. Wikipedia (2015). https://en.wikipedia.org/wiki/Macrocytosis. Accessed on December 14, 2015</ref><ref name="Basophilic">Basophilic stippling. Wikipedia (2015). https://en.wikipedia.org/wiki/Basophilic_stippling. Accessed on December 14, 2015</ref><ref name="Howell">Causes of Howell-Jolly body. Wikipedia (2015). https://en.wikipedia.org/wiki/Howell%E2%80%93Jolly_body. Accessed on December 14, 2015</ref><ref name="Pseudopelger">Acquired or pseudo-Pelger-Huët anomaly. Wikipedia (2015). https://en.wikipedia.org/wiki/Pelger%E2%80%93Huet_anomaly. Accessed on December 14, 2015</ref><ref name="Librepathology2">Cytogenetics of myelodysplastic syndromes. Librepathology (2015). http://librepathology.org/wiki/index.php/Myelodysplastic_syndromes. Accessed on December 8, 2015</ref><ref name="Haase2008">{{cite journal|last1=Haase|first1=Detlef|title=Cytogenetic features in myelodysplastic syndromes|journal=Annals of Hematology|volume=87|issue=7|year=2008|pages=515–526|issn=0939-5555|doi=10.1007/s00277-008-0483-y}}</ref><ref name="TricotWolf-Peeters1984">{{cite journal|last1=Tricot|first1=G.|last2=Wolf-Peeters|first2=C. De|last3=Hendrickx|first3=B.|last4=Verwilghen|first4=R. L.|title=Bone marrow histology in myelodysplastic syndromes.|journal=British Journal of Haematology|volume=57|issue=3|year=1984|pages=423–430|issn=0007-1048|doi=10.1111/j.1365-2141.1984.tb02916.x}}</ref> | ||
===CT=== | ===CT=== | ||
[[CT scan]] may be helpful in the diagnosis of myelodysplastic syndrome. Findings on CT scan of the spine suggestive of myelodysplastic syndrome include [[osteosclerosis]] and [[myelosclerosis]].<ref name=radiopaediaMDS>CT scan of myelodysplastic syndrome with osteomyelosclerosis. Dr Björn Jobke. Radiopaedia (2015). http://radiopaedia.org/cases/myelodysplastic-syndrome-with-osteomyelosclerosis. Accessed on December 14, 2015</ref> | [[CT scan]] may be helpful in the diagnosis of myelodysplastic syndrome. Findings on CT scan of the spine suggestive of myelodysplastic syndrome include [[osteosclerosis]] and [[myelosclerosis]].<ref name="radiopaediaMDS">CT scan of myelodysplastic syndrome with osteomyelosclerosis. Dr Björn Jobke. Radiopaedia (2015). http://radiopaedia.org/cases/myelodysplastic-syndrome-with-osteomyelosclerosis. Accessed on December 14, 2015</ref> | ||
===MRI=== | ===MRI=== | ||
[[Bone marrow]] [[MRI]] is helpful in the diagnosis of myelodysplastic syndrome. On MRI, myelodysplastic syndrome is characterized by low signal on T1-weighted imaging and high signal on T2-weighted imaging.<ref name=radiopaedia>Radiographic features MRI of myelodysplastic syndrome. Dr Yuranga Weerakkody et al. Radiopaedia (2015). http://radiopaedia.org/articles/myelodysplastic-syndrome. Accessed on December 14, 2015</ref> | [[Bone marrow]] [[MRI]] is helpful in the diagnosis of myelodysplastic syndrome. On MRI, myelodysplastic syndrome is characterized by low signal on T1-weighted imaging and high signal on T2-weighted imaging.<ref name="radiopaedia">Radiographic features MRI of myelodysplastic syndrome. Dr Yuranga Weerakkody et al. Radiopaedia (2015). http://radiopaedia.org/articles/myelodysplastic-syndrome. Accessed on December 14, 2015</ref> | ||
===Other Imaging Findings=== | ===Other Imaging Findings=== | ||
There are no other imaging findings associated with myelodysplastic syndrome. | There are no other imaging findings associated with myelodysplastic syndrome. | ||
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==Treatment== | ==Treatment== | ||
===Medical therapy=== | ===Medical therapy=== | ||
[[Chemotherapy]] is recommended among all patients who develop myelodysplastic syndrome.<ref name=cancerca>Treatment of myelodysplastic syndrome. National Cancer Institute (2015). http://www.cancer.ca/en/cancer-information/cancer-type/leukemia/leukemia/myelodysplastic-syndromes/?region=on. Accessed on December 15, 2015</ref> | [[Chemotherapy]] is recommended among all patients who develop myelodysplastic syndrome.<ref name="cancerca">Treatment of myelodysplastic syndrome. National Cancer Institute (2015). http://www.cancer.ca/en/cancer-information/cancer-type/leukemia/leukemia/myelodysplastic-syndromes/?region=on. Accessed on December 15, 2015</ref> | ||
===Surgery=== | ===Surgery=== | ||
Surgery is not the first-line treatment option for patients with myelodysplastic syndrome. [[Stem cell transplantation]] is usually reserved for patients who are either young or those with high-risk MDS.<ref name=cancerca>Treatment of myelodysplastic syndrome. National Cancer Institute (2015). http://www.cancer.ca/en/cancer-information/cancer-type/leukemia/leukemia/myelodysplastic-syndromes/?region=on. Accessed on December 15, 2015</ref> | Surgery is not the first-line treatment option for patients with myelodysplastic syndrome. [[Stem cell transplantation]] is usually reserved for patients who are either young or those with high-risk MDS.<ref name="cancerca">Treatment of myelodysplastic syndrome. National Cancer Institute (2015). http://www.cancer.ca/en/cancer-information/cancer-type/leukemia/leukemia/myelodysplastic-syndromes/?region=on. Accessed on December 15, 2015</ref> | ||
===Primary Prevention=== | ===Primary Prevention=== | ||
Effective measures for the primary prevention of myelodysplastic syndrome include avoiding exposure to [[tobacco smoke]], [[ionizing radiation]], [[herbicides]], and [[pesticides]].<ref name=cancergov>Risk factors of myelodysplastic syndrome. National Cancer Institute (2015). http://www.cancer.gov/types/liver/hp/child-liver-treatment-pdq#link/_570_toc. Accessed on December 7, 2015</ref> | Effective measures for the primary prevention of myelodysplastic syndrome include avoiding exposure to [[tobacco smoke]], [[ionizing radiation]], [[herbicides]], and [[pesticides]].<ref name="cancergov">Risk factors of myelodysplastic syndrome. National Cancer Institute (2015). http://www.cancer.gov/types/liver/hp/child-liver-treatment-pdq#link/_570_toc. Accessed on December 7, 2015</ref> | ||
===Secondary Prevention=== | ===Secondary Prevention=== | ||
There are no secondary preventive measures available for myelodysplastic syndrome. | There are no secondary preventive measures available for myelodysplastic syndrome. | ||
Revision as of 00:02, 3 January 2019
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Myelodysplastic syndrome Microchapters |
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Differentiating Myelodysplastic syndrome from other Diseases |
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Diagnosis |
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Myelodysplastic syndrome overview On the Web |
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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]Amandeep Singh M.D.[3]
Overview
The myelodysplastic syndromes was first described in 1900 by Leube. Myelodysplastic syndromes may be classified into several subtypes based on the French-American-British (FAB) classification and the World Health Organization (WHO) classification methods. Cytogenetic abnormalities involved in the pathogenesis of myelodysplastic syndrome include isolated deletion of 5q, monosomy 7, and monosomy 8. Myelodysplastic syndrome is associated with Fanconi syndrome, Diamond-Blackfan anemia, Shwachman-Diamond syndrome. There are no characteristic findings of myelodysplastic syndrome on gross pathology. On microscopic histopathological analysis, dyserythropoiesis, dysgranulopoiesis, and dysmegakaryocytopoiesis are findings of myelodysplastic syndrome. There are no known direct causes for primary myelodysplastic syndrome. Common risk factors for secondary myelodysplastic syndrome can be found here. Myelodysplastic syndrome must be differentiated from other diseases that cause anemia, neutropenia, and thrombocytopenia, such as: aplastic anemia, fanconi anemia, pure red cell aplasia, Shwachman-Diamond syndrome, paroxysmal nocturnal hemoglobinuria, parovirus B19 infection, and vitamin B12 defeciency. The incidence of myelodysplastic syndrome is approximately 4.4 to 4.6 cases per 100,000 individuals in the United States. Myelodysplastic syndrome commonly affects older patients. Males are more commonly affected with myelodysplastic syndrome than females. Myelodysplastic syndrome usually affects individuals of the Caucasian race. Common risk factors in the development of myelodysplastic syndrome are past treatment with chemotherapy, radiation therapy, past exposure to tobacco smoke, ionizing radiation, organic chemicals, and heavy metals. If left untreated, a high percentage of patients with myelodysplastic syndrome may progress to develop acute myeloid leukemia or die due to bone marrow failure. Common complications of myelodysplasia include progression to acute myeloid leukemia, bone marrow failure, infection, hemorrhage, and iron overload. Prognosis is generally poor, and the 5-year survival rate of patients with high IPSS score myelodysplastic syndrome is approximately 55%. Symptoms of myelodysplastic syndrome include bleeding, easy bruising, shortness of breath, weakness, and fatigue. Common physical examination findings of myelodysplastic syndrome include pallor, hepatomegaly, splenomegaly, lymphadenopathy, fever, and petechiae. Laboratory findings consistent with the diagnosis of myelodysplastic syndrome include abnormal complete blood count, peripheral blood smear, cytogenetic analysis, immunohistochemistry, and bone marrow biopsy. Chemotherapy is recommended among all patients who develop myelodysplastic syndrome. Surgery is not the first-line treatment option for patients with myelodysplastic syndrome. Stem cell transplantation is usually reserved for patients who are either young or those with high-risk MDS.
Historical Perspective
Myelodysplastic syndrome was first described in 1900 by Leube.[1]
Classification
Myelodysplastic syndrome may be classified into several subtypes based on the French-American-British (FAB) classification and the World Health Organization (WHO) classification methods.[2][3][4][5]
Pathophysiology
Cytogenetic abnormalities involved in the pathogenesis of myelodysplastic syndrome include isolated deletion of 5q, monosomy 7, and monosomy 8.[6] Myelodysplastic syndrome is associated with Fanconi syndrome, Diamond-Blackfan anemia, Shwachman-Diamond syndrome.[7] There are no characteristic findings of myelodysplastic syndrome on gross pathology. On microscopic histopathological analysis, dyserythropoiesis, dysgranulopoiesis, and dysmegakaryocytopoiesis are findings of myelodysplastic syndrome.[6]
Causes
There are no known direct causes for primary myelodysplastic syndrome. Common risk factors for secondary myelodysplastic syndrome can be found here.[8]
Differentiating Myelodysplastic syndrome from other Diseases
Myelodysplastic syndrome must be differentiated from other diseases that cause anemia, neutropenia, and thrombocytopenia, such as: aplastic anemia, fanconi anemia, pure red cell aplasia, Shwachman-Diamond syndrome, paroxysmal nocturnal hemoglobinuria, parovirus B19 infection, and vitamin B12 defeciency.[9][10][11]
Epidemiology and Demographics
The incidence of myelodysplastic syndrome is approximately 4.4 to 4.6 cases per 100,000 individuals in the United States.[12] Myelodysplastic syndrome commonly affects older patients.[12] Males are more commonly affected with myelodysplastic syndrome than females.[12] Myelodysplastic syndrome usually affects individuals of the Caucasian race.[12]
Risk Factors
Common risk factors in the development of myelodysplastic syndrome are past treatment with chemotherapy, radiation therapy, past exposure to tobacco smoke, ionizing radiation, organic chemicals, and heavy metals.[12]
Screening
According to the United States Preventive Services Task Force, there is insufficient evidence to recommend routine screening for myelodysplastic syndrome.[13]
Natural History, Complications and Prognosis
If left untreated, a high percentage of patients with myelodysplastic syndrome may progress to develop acute myeloid leukemia or die due to bone marrow failure.[14] Common complications of myelodysplasia include progression to acute myeloid leukemia, bone marrow failure, infection, hemorrhage, and iron overload.[14] Prognosis is generally poor, and the 5-year survival rate of patients with high IPSS score myelodysplastic syndrome is approximately 55%.[15]
Diagnosis
History and symptoms
Symptoms of myelodysplastic syndrome include bleeding, easy bruising, shortness of breath, weakness, and fatigue.[12][10]
Physical Examination
Common physical examination findings of myelodysplastic syndrome include pallor, hepatomegaly, splenomegaly, lymphadenopathy, fever, and petechiae.[16]
Laboratory Findings
Laboratory findings consistent with the diagnosis of myelodysplastic syndrome include abnormal complete blood count, peripheral blood smear, cytogenetic analysis, immunohistochemistry, and bone marrow biopsy.[17][18][19][20][21][6][22][23]
CT
CT scan may be helpful in the diagnosis of myelodysplastic syndrome. Findings on CT scan of the spine suggestive of myelodysplastic syndrome include osteosclerosis and myelosclerosis.[24]
MRI
Bone marrow MRI is helpful in the diagnosis of myelodysplastic syndrome. On MRI, myelodysplastic syndrome is characterized by low signal on T1-weighted imaging and high signal on T2-weighted imaging.[2]
Other Imaging Findings
There are no other imaging findings associated with myelodysplastic syndrome.
Other Diagnostic Studies
Other diagnostic studies for myelodysplastic syndrome include bone marrow biopsy.[23]
Treatment
Medical therapy
Chemotherapy is recommended among all patients who develop myelodysplastic syndrome.[8]
Surgery
Surgery is not the first-line treatment option for patients with myelodysplastic syndrome. Stem cell transplantation is usually reserved for patients who are either young or those with high-risk MDS.[8]
Primary Prevention
Effective measures for the primary prevention of myelodysplastic syndrome include avoiding exposure to tobacco smoke, ionizing radiation, herbicides, and pesticides.[12]
Secondary Prevention
There are no secondary preventive measures available for myelodysplastic syndrome.
References
- ↑ Nimer, S. D. (2008). "Myelodysplastic syndromes". Blood. 111 (10): 4841–4851. doi:10.1182/blood-2007-08-078139. ISSN 0006-4971.
- ↑ 2.0 2.1 Classification of myelodysplastic syndrome. Radiopaedia (2015). http://radiopaedia.org/articles/myelodysplastic-syndrome. Accessed on December 7, 2015
- ↑ Pathologic systems of myelodysplastic syndrome. National Cancer Institute (2015). http://www.cancer.gov/types/myeloproliferative/hp/myelodysplastic-treatment-pdq/#link/_204_toc. Accessed on December 7, 2015
- ↑ French-American-British (FAB) classification of myelodysplastic syndrome. Wikipedia (2015). https://en.wikipedia.org/wiki/Myelodysplastic_syndrome. Accessed on December 7, 2015
- ↑ World Health Organization classification of myelodysplastic syndrome. Wikipedia (2015). https://en.wikipedia.org/wiki/Myelodysplastic_syndrome. Accessed on December 8, 2015
- ↑ 6.0 6.1 6.2 Cytogenetics of myelodysplastic syndromes. Librepathology (2015). http://librepathology.org/wiki/index.php/Myelodysplastic_syndromes. Accessed on December 8, 2015
- ↑ Associations of myelodysplastic syndromes. Librepathology (2015). http://librepathology.org/wiki/index.php/Myelodysplastic_syndromes. Accessed on December 8, 2015
- ↑ 8.0 8.1 8.2 Risk factors of myelodysplastic syndrome. National Cancer Institute (2015). http://www.cancer.ca/en/cancer-information/cancer-type/leukemia/leukemia/myelodysplastic-syndromes/?region=on. Accessed on December 16, 2015
- ↑ Differential diagnosis of myelodysplastic syndromes. Librepathology (2015). http://librepathology.org/wiki/index.php/Myelodysplastic_syndromes. Accessed on December 9, 2015
- ↑ 10.0 10.1 Merrill, Andrea L.; Smith, Hedy (2011). "Myelodysplastic Syndrome and Autoimmunity: A Case Report of an Unusual Presentation of Myelodysplastic Syndrome". Case Reports in Hematology. 2011: 1–4. doi:10.1155/2011/560106. ISSN 2090-6560.
- ↑ DeZern, A. E.; Sekeres, M. A. (2014). "The Challenging World of Cytopenias: Distinguishing Myelodysplastic Syndromes From Other Disorders of Marrow Failure". The Oncologist. 19 (7): 735–745. doi:10.1634/theoncologist.2014-0056. ISSN 1083-7159.
- ↑ 12.0 12.1 12.2 12.3 12.4 12.5 12.6 Risk factors of myelodysplastic syndrome. National Cancer Institute (2015). http://www.cancer.gov/types/liver/hp/child-liver-treatment-pdq#link/_570_toc. Accessed on December 7, 2015
- ↑ Myelodysplastic syndrome. USPSTF. http://www.uspreventiveservicestaskforce.org/BrowseRec/Search?s=myelodysplastic+syndrome Accessed on December 9, 2015
- ↑ 14.0 14.1 Natelson, Ethan A.; Pyatt, David (2013). "Acquired Myelodysplasia or Myelodysplastic Syndrome: Clearing the Fog". Advances in Hematology. 2013: 1–11. doi:10.1155/2013/309637. ISSN 1687-9104.
- ↑ Prognostic Scoring Systems of myelodysplastic syndrome. National Cancer Institute (2015). http://www.cancer.gov/types/myeloproliferative/hp/myelodysplastic-treatment-pdq/#link/_204_toc. Accessed on December 11, 2015
- ↑ Clinical features of myelodysplastic syndromes. National Cancer Institute (2015). http://www.cancer.gov/types/myeloproliferative/patient/myelodysplastic-treatment-pdq. Accessed on December 13, 2015
- ↑ Tests to examine and diagnose myelodysplastic syndromes. National Cancer Institute 2015. http://www.cancer.gov/types/myeloproliferative/patient/myelodysplastic-treatment-pdq. Accessed on December 14, 2015
- ↑ Causes of macrocytosis. Wikipedia (2015). https://en.wikipedia.org/wiki/Macrocytosis. Accessed on December 14, 2015
- ↑ Basophilic stippling. Wikipedia (2015). https://en.wikipedia.org/wiki/Basophilic_stippling. Accessed on December 14, 2015
- ↑ Causes of Howell-Jolly body. Wikipedia (2015). https://en.wikipedia.org/wiki/Howell%E2%80%93Jolly_body. Accessed on December 14, 2015
- ↑ Acquired or pseudo-Pelger-Huët anomaly. Wikipedia (2015). https://en.wikipedia.org/wiki/Pelger%E2%80%93Huet_anomaly. Accessed on December 14, 2015
- ↑ Haase, Detlef (2008). "Cytogenetic features in myelodysplastic syndromes". Annals of Hematology. 87 (7): 515–526. doi:10.1007/s00277-008-0483-y. ISSN 0939-5555.
- ↑ 23.0 23.1 Tricot, G.; Wolf-Peeters, C. De; Hendrickx, B.; Verwilghen, R. L. (1984). "Bone marrow histology in myelodysplastic syndromes". British Journal of Haematology. 57 (3): 423–430. doi:10.1111/j.1365-2141.1984.tb02916.x. ISSN 0007-1048.
- ↑ CT scan of myelodysplastic syndrome with osteomyelosclerosis. Dr Björn Jobke. Radiopaedia (2015). http://radiopaedia.org/cases/myelodysplastic-syndrome-with-osteomyelosclerosis. Accessed on December 14, 2015