Abstract |
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.
|
Authors | Joan Cunningham, Mark Sales, Andrew Pearce, Julie Howard, Ray Stallings, Nicholas Telford, Rosalie Wilkie, Brian Huntly, Angela Thomas, Aengus O'Marcaigh, Andrew Will, Norman Pratt |
Journal | British journal of haematology
(Br J Haematol)
Vol. 119
Issue 4
Pg. 1062-9
(Dec 2002)
ISSN: 0007-1048 [Print] England |
PMID | 12472589
(Publication Type: Journal Article, Review)
|
Topics |
- Adolescent
- Adult
- Bone Marrow Transplantation
- Child
- Child, Preschool
- Chromosomes, Human, Pair 7
(genetics)
- Disease Progression
- Failure to Thrive
(genetics)
- Humans
- In Situ Hybridization, Fluorescence
- Infant
- Isochromosomes
(genetics)
- Karyotyping
- Myelodysplastic Syndromes
(genetics, therapy)
- Patient Selection
- Syndrome
|