Does isochromosome 7q mandate bone marrow transplant in children with Shwachman-Diamond syndrome?
Will, Andrew M
AffiliationNinewells Hospital and Medical School, Dundee, Western General Hospital, Edinburgh, UK. email@example.com
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AbstractWe 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.
CitationDoes isochromosome 7q mandate bone marrow transplant in children with Shwachman-Diamond syndrome? 2002, 119 (4):1062-9 Br. J. Haematol.
JournalBritish Journal of Haematology
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- Malignant myeloid transformation with isochromosome 7q in Shwachman-Diamond syndrome.
- Authors: Dror Y, Squire J, Durie P, Freedman MH
- Issue date: 1998 Oct
- Discordant detection of monosomy 7 by GTG-banding and FISH in a patient with Shwachman-Diamond syndrome without evidence of myelodysplastic syndrome or acute myelogenous leukemia.
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