| Autor: |
Cunningham, Joan, Sales, Mark, Pearce, Andrew, Howard, Julie, Stallings, Ray, Telford, Nicholas, Wilkie, Rosalie, Huntly, Brian, Thomas, Angela, O'Marcaigh, Aengus, Will, Andrew, Pratt, Norman |
| Předmět: |
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| Zdroj: |
British Journal of Haematology; Dec2002, Vol. 119 Issue 4, p1062-1069, 8p |
| Abstrakt: |
Summary. We report on nine children with Shwachman–Diamond syndrome (SDS), eight of whom had clonal abnormalities of chromosome 7. Seven children had an isochromosome 7 [i(7)(q10)] and one a derivative chromosome 7, all with an apparently identical (centromeric) breakpoint. Children with SDS are predisposed to myelodysplasia (MDS) and acute myeloid leukaemia (AML) often with chromosome 7 abnormalities. Allogeneic transplants have been used to treat these children, however, they are a high-risk transplant group and require careful evaluation. Three of the children were transplanted but only one survived, who to our knowledge remains the longest surviving SDS transplant patient (4·5 years +). The six non-transplanted children are well. In classic MDS, chromosome 7 abnormalities are associated with rapid progression to acute leukaemia; however, we present evidence to suggest that isochromosome 7q may represent a separate disease entity in SDS children. This is a particularly interesting finding given that the SDS gene has recently been mapped to the centromeric region of chromosome 7. Our studies indicate that i(7)(q10) is a relatively benign rearrangement and that it is not advisable to offer allogeneic transplants to SDS children with i(7)(q10) alone in the absence of other clinical signs of disease progression. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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