Myelodysplastic syndrome overview
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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
The myelodysplastic syndromes was first described in 1900 by Leube.[1] Myelodysplastic syndromes may be classified into several subtypes based on French-American-British (FAB) classification and World Health Organization (WHO) classification method.[2][3][4][5] 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] The cause of primary myelodysplastic syndrome has not been identified.[3] Common causes of secondary myelodysplastic syndrome include radiation, busulfan, nitrosourea, procarbazine, DNA topoisomerase inhibitors, acquired aplastic anemia, and Fanconi's anemia.[3] 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.[8][9][10] The incidence of myelodysplastic syndrome is approximately 4.4 to 4.6 cases per 100,000 individuals in the United States.[11] Myelodysplastic syndrome commonly affects older patients.[11] Males are more commonly affected with myelodysplastic syndrome than females.[11] Myelodysplastic syndrome usually affects individuals of the Caucasian race.[11] 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.[11] 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.[12] Common complications of myelodysplasia include progression to acute myeloid leukemia, bone marrow failure, infection, hemorrhage, and iron overload.[12] Prognosis is generally poor, and the 5-year survival rate of patients with high IPSS score myelodysplastic syndrome is approximately 55%.[13] Symptoms of myelodysplastic syndrome include bleeding, easy bruising, shortness of breath, weakness, and fatigue.[11][9] Common physical examination findings of myelodysplastic syndrome include pallor, hepatomegaly, splenomegaly, lymphadenopathy, fever, and petechiae.[14] Laboratory findings consistent with the diagnosis of myelodysplastic syndrome include abnormal complete blood count, peripheral blood smear, cytogenetic analysis, immunohistochemistry, and bone marrow biopsy.[15][16][17][18][19][6][20][21]
Historical Perspective
Myelodysplastic syndrome was first described in 1900 by Leube.[1]
Classification
Myelodysplastic syndrome may be classified into several subtypes based on French-American-British (FAB) classification and World Health Organization (WHO) classification method.[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
The cause of primary myelodysplastic syndrome has not been identified.[3] Common causes of secondary myelodysplastic syndrome include radiation, busulfan, nitrosourea, procarbazine, DNA topoisomerase inhibitors, acquired aplastic anemia, and Fanconi's anemia.[3]
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.[8][9][10]
Epidemiology and Demographics
The incidence of myelodysplastic syndrome is approximately 4.4 to 4.6 cases per 100,000 individuals in the United States.[11] Myelodysplastic syndrome commonly affects older patients.[11] Males are more commonly affected with myelodysplastic syndrome than females.[11] Myelodysplastic syndrome usually affects individuals of the Caucasian race.[11]
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.[11]
Screening
According to the United States Preventive Services Task Force, there is insufficient evidence to recommend routine screening for myelodysplastic syndrome.[22]
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.[12] Common complications of myelodysplasia include progression to acute myeloid leukemia, bone marrow failure, infection, hemorrhage, and iron overload.[12] Prognosis is generally poor, and the 5-year survival rate of patients with high IPSS score myelodysplastic syndrome is approximately 55%.[13]
Diagnosis
History and symptoms
Symptoms of myelodysplastic syndrome include bleeding, easy bruising, shortness of breath, weakness, and fatigue.[11][9]
Physical Examination
Common physical examination findings of myelodysplastic syndrome include pallor, hepatomegaly, splenomegaly, lymphadenopathy, fever, and petechiae.[14]
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.[15][16][17][18][19][6][20][21]
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.[23]
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.[21]
Treatment
Medical therapy
Chemotherapy is recommended among all patients who develop myelodysplastic syndrome.[24]
Surgery
Primary Prevention
Effective measures for the primary prevention of myelodysplastic syndrome include avoiding exposure to tobacco smoke, ionizing radiation, herbicides, and pesticides.[11]
Secondary Prevention
References
- ↑ 1.0 1.1 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 2.2 Classification of myelodysplastic syndrome. Radiopaedia (2015). http://radiopaedia.org/articles/myelodysplastic-syndrome. Accessed on December 7, 2015
- ↑ 3.0 3.1 3.2 3.3 3.4 3.5 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
- ↑ 4.0 4.1 French-American-British (FAB) classification of myelodysplastic syndrome. Wikipedia (2015). https://en.wikipedia.org/wiki/Myelodysplastic_syndrome. Accessed on December 7, 2015
- ↑ 5.0 5.1 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 6.3 6.4 6.5 Cytogenetics of myelodysplastic syndromes. Librepathology (2015). http://librepathology.org/wiki/index.php/Myelodysplastic_syndromes. Accessed on December 8, 2015
- ↑ 7.0 7.1 Associations of myelodysplastic syndromes. Librepathology (2015). http://librepathology.org/wiki/index.php/Myelodysplastic_syndromes. Accessed on December 8, 2015
- ↑ 8.0 8.1 Differential diagnosis of myelodysplastic syndromes. Librepathology (2015). http://librepathology.org/wiki/index.php/Myelodysplastic_syndromes. Accessed on December 9, 2015
- ↑ 9.0 9.1 9.2 9.3 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.
- ↑ 10.0 10.1 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.
- ↑ 11.00 11.01 11.02 11.03 11.04 11.05 11.06 11.07 11.08 11.09 11.10 11.11 11.12 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
- ↑ 12.0 12.1 12.2 12.3 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.
- ↑ 13.0 13.1 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
- ↑ 14.0 14.1 Clinical features of myelodysplastic syndromes. National Cancer Institute (2015). http://www.cancer.gov/types/myeloproliferative/patient/myelodysplastic-treatment-pdq. Accessed on December 13, 2015
- ↑ 15.0 15.1 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
- ↑ 16.0 16.1 Causes of macrocytosis. Wikipedia (2015). https://en.wikipedia.org/wiki/Macrocytosis. Accessed on December 14, 2015
- ↑ 17.0 17.1 Basophilic stippling. Wikipedia (2015). https://en.wikipedia.org/wiki/Basophilic_stippling. Accessed on December 14, 2015
- ↑ 18.0 18.1 Causes of Howell-Jolly body. Wikipedia (2015). https://en.wikipedia.org/wiki/Howell%E2%80%93Jolly_body. Accessed on December 14, 2015
- ↑ 19.0 19.1 Acquired or pseudo-Pelger-Huët anomaly. Wikipedia (2015). https://en.wikipedia.org/wiki/Pelger%E2%80%93Huet_anomaly. Accessed on December 14, 2015
- ↑ 20.0 20.1 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.
- ↑ 21.0 21.1 21.2 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.
- ↑ Myelodysplastic syndrome. USPSTF. http://www.uspreventiveservicestaskforce.org/BrowseRec/Search?s=myelodysplastic+syndrome Accessed on December 9, 2015
- ↑ 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
- ↑ 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