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Myelodysplastic syndrome(MDS)

MedGen UID:
44547
Concept ID:
C0026986
Neoplastic Process
Synonyms: MDS; Myelodysplastic syndrome, somatic; MYELODYSPLASTIC SYNDROME, SUSCEPTIBILITY TO; Myelodysplastic Syndrome, Susceptibility, GATA2-Related
Modes of inheritance:
Somatic mutation
MedGen UID:
107465
Concept ID:
C0544886
Cell or Molecular Dysfunction
Sources: HPO, OMIM
An alteration in DNA that occurs after conception. Somatic mutations can occur in any of the cells of the body except the germ cells (sperm and egg) and therefore are not passed on to children. These alterations can (but do not always) cause cancer or other diseases.
Somatic mutation (HPO, OMIM)
 
Genes (locations): ASXL1 (20q11.21); GATA2 (3q21.3); SF3B1 (2q33.1); TET2 (4q24)
OMIM®: 614286

Definition

Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematologic stem cell disorders characterized by ineffective hematopoiesis resulting in low blood counts, most commonly anemia, and a risk of progression to acute myeloid leukemia (AML; 601626). Blood smears and bone marrow biopsies show dysplastic changes in myeloid cells, with abnormal proliferation and differentiation of 1 or more lineages (erythroid, myeloid, megakaryocytic). MDS can be subdivided into several categories based on morphologic characteristics, such as low-grade refractory anemia (RA) or high-grade refractory anemia with excess blasts (RAEB). Bone marrow biopsies of some patients show ringed sideroblasts (RARS), which reflects abnormal iron staining in mitochondria surrounding the nucleus of erythrocyte progenitors (summary by Delhommeau et al., 2009 and Papaemmanuil et al., 2011). [from OMIM]

Clinical features

Myelodysplastic Syndrome
MedGen UID:
483005
Concept ID:
C3463824
Neoplastic Process
Your bone marrow is the spongy tissue inside some of your bones, such as your hip and thigh bones. It contains immature cells, called stem cells. The stem cells can develop into the red blood cells that carry oxygen through your body, the white blood cells that fight infections, and the platelets that help with blood clotting. If you have a myelodysplastic syndrome, the stem cells do not mature into healthy blood cells. Many of them die in the bone marrow. This means that you do not have enough healthy cells, which can lead to infection, anemia, or easy bleeding. Myelodysplastic syndromes often do not cause early symptoms and are sometimes found during a routine blood test. If you have symptoms, they may include. -Shortness of breath. -Weakness or feeling tired. -Skin that is paler than usual. -Easy bruising or bleeding. -Pinpoint spots under the skin caused by bleeding. -Fever or frequent infections. Myelodysplastic syndromes are rare. People at higher risk are over 60, have had chemotherapy or radiation therapy, or have been exposed to certain chemicals. Treatment options include transfusions, drug therapy, chemotherapy, and blood or bone marrow stem cell transplants. NIH: National Cancer Institute.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMyelodysplastic syndrome

Recent clinical studies

Etiology

Endo M, Sekikawa A, Tsumura T, Maruo T, Osaki Y
Am J Case Rep 2015 Nov 21;16:827-31. PMID: 26590106Free PMC Article
Konuma T, Takahashi S, Uchida N, Kuwatsuka Y, Yamasaki S, Aoki J, Onishi Y, Aotsuka N, Ohashi K, Mori T, Masuko M, Nakamae H, Miyamura K, Kato K, Atsuta Y, Kato S, Asano S, Takami A, Miyazaki Y; Adult Myelodysplastic Syndrome and Adult Acute Myeloid Leukemia Working Group of the Japan Society for Hematopoietic Cell Transplantation.
Biol Blood Marrow Transplant 2015 Sep;21(9):1632-40. Epub 2015 May 16 doi: 10.1016/j.bbmt.2015.05.009. PMID: 25985920
de Witte TM, Bowen D, Robin M, Malcovati L, Mufti G, Niederwieser D, Yakoubagha I, Kröger N; Myelodysplastic Syndrome Stem Cell Transplant Guidelines Preparation Group from the Chronic Malignancies Working Party, European Group for Blood and Marrow Transplantation and European LeukemiaNet.
Clin Lymphoma Myeloma Leuk 2014 Sep;14 Suppl:S42-5. doi: 10.1016/j.clml.2014.06.015. PMID: 25486954
Kim SY, Le Rademacher J, Antin JH, Anderlini P, Ayas M, Battiwalla M, Carreras J, Kurtzberg J, Nakamura R, Eapen M, Deeg HJ
Haematologica 2014 Dec;99(12):1868-75. Epub 2014 Aug 8 doi: 10.3324/haematol.2014.108977. PMID: 25107891Free PMC Article
Rogers HJ, Vardiman JW, Anastasi J, Raca G, Savage NM, Cherry AM, Arber D, Moore E, Morrissette JJ, Bagg A, Liu YC, Mathew S, Orazi A, Lin P, Wang SA, Bueso-Ramos CE, Foucar K, Hasserjian RP, Tiu RV, Karafa M, Hsi ED
Haematologica 2014 May;99(5):821-9. Epub 2014 Jan 24 doi: 10.3324/haematol.2013.096420. PMID: 24463215Free PMC Article

Diagnosis

Endo M, Sekikawa A, Tsumura T, Maruo T, Osaki Y
Am J Case Rep 2015 Nov 21;16:827-31. PMID: 26590106Free PMC Article
Kaneko H, Shimura K, Kuwahara S, Ohshiro M, Tsutsumi Y, Iwai T, Horiike S, Yokota S, Ohkawara Y, Taniwaki M
J Med Case Rep 2014 Aug 5;8:268. doi: 10.1186/1752-1947-8-268. PMID: 25096479Free PMC Article
Rogers HJ, Vardiman JW, Anastasi J, Raca G, Savage NM, Cherry AM, Arber D, Moore E, Morrissette JJ, Bagg A, Liu YC, Mathew S, Orazi A, Lin P, Wang SA, Bueso-Ramos CE, Foucar K, Hasserjian RP, Tiu RV, Karafa M, Hsi ED
Haematologica 2014 May;99(5):821-9. Epub 2014 Jan 24 doi: 10.3324/haematol.2013.096420. PMID: 24463215Free PMC Article
Costantini B, Kordasti SY, Kulasekararaj AG, Jiang J, Seidl T, Abellan PP, Mohamedali A, Thomas NS, Farzaneh F, Mufti GJ
Haematologica 2013 Aug;98(8):1196-205. Epub 2012 Dec 14 doi: 10.3324/haematol.2012.074823. PMID: 23242597Free PMC Article
Geyer JT, Verma S, Mathew S, Wang YL, Racchumi J, Espinal-Witter R, Subramaniyam S, Knowles DM, Orazi A
Hum Pathol 2013 Mar;44(3):346-56. Epub 2012 Sep 17 doi: 10.1016/j.humpath.2012.05.022. PMID: 22995330

Therapy

Issa JP, Roboz G, Rizzieri D, Jabbour E, Stock W, O'Connell C, Yee K, Tibes R, Griffiths EA, Walsh K, Daver N, Chung W, Naim S, Taverna P, Oganesian A, Hao Y, Lowder JN, Azab M, Kantarjian H
Lancet Oncol 2015 Sep;16(9):1099-110. Epub 2015 Aug 19 doi: 10.1016/S1470-2045(15)00038-8. PMID: 26296954
Konuma T, Takahashi S, Uchida N, Kuwatsuka Y, Yamasaki S, Aoki J, Onishi Y, Aotsuka N, Ohashi K, Mori T, Masuko M, Nakamae H, Miyamura K, Kato K, Atsuta Y, Kato S, Asano S, Takami A, Miyazaki Y; Adult Myelodysplastic Syndrome and Adult Acute Myeloid Leukemia Working Group of the Japan Society for Hematopoietic Cell Transplantation.
Biol Blood Marrow Transplant 2015 Sep;21(9):1632-40. Epub 2015 May 16 doi: 10.1016/j.bbmt.2015.05.009. PMID: 25985920
de Witte TM, Bowen D, Robin M, Malcovati L, Mufti G, Niederwieser D, Yakoubagha I, Kröger N; Myelodysplastic Syndrome Stem Cell Transplant Guidelines Preparation Group from the Chronic Malignancies Working Party, European Group for Blood and Marrow Transplantation and European LeukemiaNet.
Clin Lymphoma Myeloma Leuk 2014 Sep;14 Suppl:S42-5. doi: 10.1016/j.clml.2014.06.015. PMID: 25486954
Kim SY, Le Rademacher J, Antin JH, Anderlini P, Ayas M, Battiwalla M, Carreras J, Kurtzberg J, Nakamura R, Eapen M, Deeg HJ
Haematologica 2014 Dec;99(12):1868-75. Epub 2014 Aug 8 doi: 10.3324/haematol.2014.108977. PMID: 25107891Free PMC Article
Rogers HJ, Vardiman JW, Anastasi J, Raca G, Savage NM, Cherry AM, Arber D, Moore E, Morrissette JJ, Bagg A, Liu YC, Mathew S, Orazi A, Lin P, Wang SA, Bueso-Ramos CE, Foucar K, Hasserjian RP, Tiu RV, Karafa M, Hsi ED
Haematologica 2014 May;99(5):821-9. Epub 2014 Jan 24 doi: 10.3324/haematol.2013.096420. PMID: 24463215Free PMC Article

Prognosis

Endo M, Sekikawa A, Tsumura T, Maruo T, Osaki Y
Am J Case Rep 2015 Nov 21;16:827-31. PMID: 26590106Free PMC Article
Issa JP, Roboz G, Rizzieri D, Jabbour E, Stock W, O'Connell C, Yee K, Tibes R, Griffiths EA, Walsh K, Daver N, Chung W, Naim S, Taverna P, Oganesian A, Hao Y, Lowder JN, Azab M, Kantarjian H
Lancet Oncol 2015 Sep;16(9):1099-110. Epub 2015 Aug 19 doi: 10.1016/S1470-2045(15)00038-8. PMID: 26296954
Konuma T, Takahashi S, Uchida N, Kuwatsuka Y, Yamasaki S, Aoki J, Onishi Y, Aotsuka N, Ohashi K, Mori T, Masuko M, Nakamae H, Miyamura K, Kato K, Atsuta Y, Kato S, Asano S, Takami A, Miyazaki Y; Adult Myelodysplastic Syndrome and Adult Acute Myeloid Leukemia Working Group of the Japan Society for Hematopoietic Cell Transplantation.
Biol Blood Marrow Transplant 2015 Sep;21(9):1632-40. Epub 2015 May 16 doi: 10.1016/j.bbmt.2015.05.009. PMID: 25985920
Kim SY, Le Rademacher J, Antin JH, Anderlini P, Ayas M, Battiwalla M, Carreras J, Kurtzberg J, Nakamura R, Eapen M, Deeg HJ
Haematologica 2014 Dec;99(12):1868-75. Epub 2014 Aug 8 doi: 10.3324/haematol.2014.108977. PMID: 25107891Free PMC Article
Rogers HJ, Vardiman JW, Anastasi J, Raca G, Savage NM, Cherry AM, Arber D, Moore E, Morrissette JJ, Bagg A, Liu YC, Mathew S, Orazi A, Lin P, Wang SA, Bueso-Ramos CE, Foucar K, Hasserjian RP, Tiu RV, Karafa M, Hsi ED
Haematologica 2014 May;99(5):821-9. Epub 2014 Jan 24 doi: 10.3324/haematol.2013.096420. PMID: 24463215Free PMC Article

Clinical prediction guides

Hu KX, Sun QY, Guo M, Qiao JX, Yu CL, Qiao JH, Dong Z, Sun WJ, Zuo HL, Huang YJ, Cai B, Ai HS
Stem Cells Transl Med 2016 Apr;5(4):524-9. Epub 2016 Feb 2 doi: 10.5966/sctm.2015-0196. PMID: 26838271Free PMC Article
Rogers HJ, Vardiman JW, Anastasi J, Raca G, Savage NM, Cherry AM, Arber D, Moore E, Morrissette JJ, Bagg A, Liu YC, Mathew S, Orazi A, Lin P, Wang SA, Bueso-Ramos CE, Foucar K, Hasserjian RP, Tiu RV, Karafa M, Hsi ED
Haematologica 2014 May;99(5):821-9. Epub 2014 Jan 24 doi: 10.3324/haematol.2013.096420. PMID: 24463215Free PMC Article
Geyer JT, Verma S, Mathew S, Wang YL, Racchumi J, Espinal-Witter R, Subramaniyam S, Knowles DM, Orazi A
Hum Pathol 2013 Mar;44(3):346-56. Epub 2012 Sep 17 doi: 10.1016/j.humpath.2012.05.022. PMID: 22995330
Santamaría C, Muntión S, Rosón B, Blanco B, López-Villar O, Carrancio S, Sánchez-Guijo FM, Díez-Campelo M, Alvarez-Fernández S, Sarasquete ME, de las Rivas J, González M, San Miguel JF, Del Cañizo MC
Haematologica 2012 Aug;97(8):1218-24. Epub 2012 Feb 27 doi: 10.3324/haematol.2011.054437. PMID: 22371183Free PMC Article
Chamuleau ME, Westers TM, van Dreunen L, Groenland J, Zevenbergen A, Eeltink CM, Ossenkoppele GJ, van de Loosdrecht AA
Haematologica 2009 Apr;94(4):496-506. Epub 2009 Feb 19 doi: 10.3324/haematol.13612. PMID: 19229054Free PMC Article

Recent systematic reviews

Esatoglu SN, Hatemi G, Salihoglu A, Hatemi I, Soysal T, Celik AF
Clin Exp Rheumatol 2015 Nov-Dec;33(6 Suppl 94):S145-51. Epub 2015 Feb 9 PMID: 25664843
Xie M, Jiang Q, Xie Y
Clin Lymphoma Myeloma Leuk 2015 Jan;15(1):22-8. Epub 2014 Jun 12 doi: 10.1016/j.clml.2014.04.010. PMID: 25042977
Meerpohl JJ, Schell LK, Rücker G, Fleeman N, Motschall E, Niemeyer CM, Bassler D
Cochrane Database Syst Rev 2014 Oct 28;(10):CD007461. doi: 10.1002/14651858.CD007461.pub3. PMID: 25348770
Frietsch JJ, Dornaus S, Neumann T, Scholl S, Schmidt V, Kunert C, Sayer HG, Hochhaus A, La Rosée P
Eur J Haematol 2014 Sep;93(3):247-59. Epub 2014 Apr 9 doi: 10.1111/ejh.12311. PMID: 24635656
Mufti GJ, Bennett JM, Goasguen J, Bain BJ, Baumann I, Brunning R, Cazzola M, Fenaux P, Germing U, Hellström-Lindberg E, Jinnai I, Manabe A, Matsuda A, Niemeyer CM, Sanz G, Tomonaga M, Vallespi T, Yoshimi A; International Working Group on Morphology of Myelodysplastic Syndrome.
Haematologica 2008 Nov;93(11):1712-7. Epub 2008 Oct 6 doi: 10.3324/haematol.13405. PMID: 18838480

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