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Review
. 2002 Dec;119(4):1062-9.
doi: 10.1046/j.1365-2141.2002.03940.x.

Does isochromosome 7q mandate bone marrow transplant in children with Shwachman-Diamond syndrome?

Joan Cunningham  1 , Mark Sales, Andrew Pearce, Julie Howard, Ray Stallings, Nicholas Telford, Rosalie Wilkie, Brian Huntly, Angela Thomas, Aengus O'Marcaigh, Andrew Will, Norman Pratt
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Free article
Review

Does isochromosome 7q mandate bone marrow transplant in children with Shwachman-Diamond syndrome?

Joan Cunningham et al. Br J Haematol. 2002 Dec.
Free article

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.

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