MDS-genetic change
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- 2010.11.23
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- 2009.07
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myelodysplastic syndrome의 genetic change에 대한 내용
목차
Myelodysplastic syndromes: genetic changes
Distinct chromosomal aberrations in MDS
Alteration of signal transduction
Alterations of transcription factors and cell-cycle control
참고문헌
본문내용
Myelodysplastic syndromes: genetic changes
MDSs : heterogeneous group of disorders characterized by impaired peripheral blood cell production (cytopenias) and most commonly a hypercellular, dysplastic-appearing bone marrow
Distinct chromosomal aberrations in MDS
common chromosomal abnormalities found in MDS
: 17p, loss of Y, 5q-, 7q- or monosomy 7, trisomy 8, 11q23 abnormalities, del 12p and 20q-, and in half of the patients, a normal chromosome pattern (MDS 뿐아니라 AML, MPD와도 관련이 있음)
1) Deletion 5q and MDS
- the most frequent genetic abnormalities in MDS
- sole aberration or combined with one or more defects
- major commonly deleted region (CDR) has been delineated at band 5q31.1
- Genes on 5q : human CD34+ hematopoietic cells에서 발현
SPARC, EGR1, CTNNA1(α-catenin), NPM1, RPS14등과 관련
* SPARC gene
- tumor suppressor gene
- antiproliferative, antiadhesive, and antiangiogenic functions
- located at 5q31-32
- murine model에서 SPARC-/- mice 는 심각한 thrombocytopenia 와 erythroid colony formation의 감소를 보였고, myelodysplastic phenotype에
기여를 한다고 추측
참고 자료
1. Nimer SD. Myelodysplastic syndromes. Blood. 2008;111(10):4841-51.
2. Nolte F, Hofmann WK. Myelodysplastic syndromes: molecular pathogenesis and genomic changes. Ann Hematol. 2008.[Epub ahead of print]
