1: Pathol Biol (Paris). 1997 Sep;45(7):556-60. 

[Molecular abnormalities and clonality in myelodysplastic syndromes]

[Article in French]

Fenaux P, Preudhomme C.

Service des Maladies du Sang, CHU de Lille, France.

Few genes have a proven role in the pathogenesis of myelodysplastic syndromes
(MDS). The most common abnormalities involve the RAS genes, most notably the
N-RAS gene, and are present in 10% of cases at diagnosis and in 30% to 40%
during the course of the disease. Mutations of the p53 are found in 5% to 10% of
cases. Mutations of the cFMS genes are less common, abnormalities of the NF1
genes seem to occur only in children, and abnormalities of the RB genes are
exceedingly rare. A few instances of t(5;12) or t(3;21) translocation have been
demonstrated, and their study has provided evidence that the TEL, EVI1, MDS1,
and AML1 genes are involved in some cases of MDS. The presence in MDS of
recurrent chromosome 7, 5q, and 20q deletions suggests that these chromosomal
segments may bear tumor suppressor genes involved in MDS. The gene(s) involved
remain(s) to be identified. Clonality studies have shown that stem cell
involvement usually occurs at the myeloid level and that normal multipotent stem
cells persist in many patients with MDS. This opens up the promising possibility
that transplantation of autologous multipotent stem cells may be an effective
therapeutic approach.

Publication Types:
    Review
    Review, Tutorial

PMID: 9404479 [PubMed - indexed for MEDLINE]


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