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myelodysplastic syndromes (MDS)

Stem and progenitor cells in myelodysplastic syndromes show aberrant stage specific expansion and harbor genetic and epigenetic alterations.

Author(s): 
Will B, Zhou L, Vogler TO, Ben-Neriah S, Schinke C, Tamari R, Yu Y, Bhagat T, Bhattacharya S, Barreyro L, Heuck C, Mo Y, Parekh S, McMahon C, Pellagatti A, Boultwood J, Montagna C, Silverman L, Maciejewski J, Greally JM, Ye BH, List AF, Steidl C, Steidl U
Primary Author: 
Will B
Journal Title: 
Blood
Original Publication Date: 
Jul 2012

Even though hematopoietic stem cell (HSC) dysfunction is presumed in MDS, the exact nature of quantitative and qualitative alterations is unknown. We conducted a study of phenotypic and molecular alterations in highly fractionated stem and progenitor populations in a variety of MDS subtypes. We observed an expansion of the phenotypically primitive long-term HSC (Lineage-/CD34+/CD38-/CD90+) in MDS, which was most pronounced in higher risk cases. These MDS HSC demonstrated dysplastic clonogenic activity. Examination of progenitors revealed that lower risk

Bone Marrow Disease(s): 

Emerging roles of the spliceosomal machinery in myelodysplastic syndromes and other hematological disorders

Author(s): 
Visconte V, Makishima H, Maciejewski JP, Tiu RV
Primary Author: 
Visconte V
Journal Title: 
Leukemia
Original Publication Date: 
May 2012

In humans, the majority of all protein-coding transcripts contain introns that are removed by mRNA splicing carried out by spliceosomes. Mutations in the spliceosome machinery have recently been identified using whole-exome/genome technologies in

Bone Marrow Disease(s): 

Myelodysplastic syndromes: 2012 update on diagnosis, risk-stratification, and management

Author(s): 
Garcia-Manero G
Primary Author: 
Garcia-Manero G
Journal Title: 
Am J Hematol
Original Publication Date: 
Jul 2012

Disease Overview: The myelodysplastic (MDS) are a very heterogeneous group of myeloid disorders characterized by peripheral blood cytopenias and increased risk of transformation to

Bone Marrow Disease(s): 

Myelodysplastic syndromes: a challenging disease for patients and physicians

Author(s): 
Somani N
Primary Author: 
Somani N
Journal Title: 
J Assoc Physicians India
Original Publication Date: 
Feb 2012

The biological mechanisms underlying the ineffective haematopoiesis and increased risk of leukaemic evolution in MDS is largely known. A careful clinical and cytogenetical assessment is required to correctly classify and risk stratify the patients. A curative approach with allogeneic stem cell transplantation should always be considered at the initial assessment. In low-risk patient receiving chronic RBC transfusions, symptomatic iron-overload is a reality and carries a significant mortality, and therefore, the iron status should be monitored and chelators used when indicated.

Bone Marrow Disease(s): 
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