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

2.50
Hdl Handle:
http://hdl.handle.net/10541/80150
Title:
Does isochromosome 7q mandate bone marrow transplant in children with Shwachman-Diamond syndrome?
Authors:
Cunningham, Joan; Sales, Mark; Pearce, Andrew; Howard, Julie; Stallings, Ray; Telford, Nicholas; Wilkie, Rosalie; Huntly, Brian; Thomas, Angela; O'Marcaigh, Aengus; Will, Andrew M; Pratt, Norman
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.
Affiliation:
Ninewells Hospital and Medical School, Dundee, Western General Hospital, Edinburgh, UK. joancunningham66@yahoo.co.uk
Citation:
Does isochromosome 7q mandate bone marrow transplant in children with Shwachman-Diamond syndrome? 2002, 119 (4):1062-9 Br. J. Haematol.
Journal:
British Journal of Haematology
Issue Date:
Dec-2002
URI:
http://hdl.handle.net/10541/80150
PubMed ID:
12472589
Type:
Article
Language:
en
ISSN:
0007-1048
Appears in Collections:
All Christie Publications

Full metadata record

DC FieldValue Language
dc.contributor.authorCunningham, Joan-
dc.contributor.authorSales, Mark-
dc.contributor.authorPearce, Andrew-
dc.contributor.authorHoward, Julie-
dc.contributor.authorStallings, Ray-
dc.contributor.authorTelford, Nicholas-
dc.contributor.authorWilkie, Rosalie-
dc.contributor.authorHuntly, Brian-
dc.contributor.authorThomas, Angela-
dc.contributor.authorO'Marcaigh, Aengus-
dc.contributor.authorWill, Andrew M-
dc.contributor.authorPratt, Norman-
dc.date.accessioned2009-09-07T16:22:15Z-
dc.date.available2009-09-07T16:22:15Z-
dc.date.issued2002-12-
dc.identifier.citationDoes isochromosome 7q mandate bone marrow transplant in children with Shwachman-Diamond syndrome? 2002, 119 (4):1062-9 Br. J. Haematol.en
dc.identifier.issn0007-1048-
dc.identifier.pmid12472589-
dc.identifier.urihttp://hdl.handle.net/10541/80150-
dc.description.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.en
dc.language.isoenen
dc.subject.meshAdolescent-
dc.subject.meshAdult-
dc.subject.meshBone Marrow Transplantation-
dc.subject.meshChild-
dc.subject.meshChild, Preschool-
dc.subject.meshChromosomes, Human, Pair 7-
dc.subject.meshDisease Progression-
dc.subject.meshFailure to Thrive-
dc.subject.meshHumans-
dc.subject.meshIn Situ Hybridization, Fluorescence-
dc.subject.meshInfant-
dc.subject.meshIsochromosomes-
dc.subject.meshKaryotyping-
dc.subject.meshMyelodysplastic Syndromes-
dc.subject.meshPatient Selection-
dc.subject.meshSyndrome-
dc.titleDoes isochromosome 7q mandate bone marrow transplant in children with Shwachman-Diamond syndrome?en
dc.typeArticleen
dc.contributor.departmentNinewells Hospital and Medical School, Dundee, Western General Hospital, Edinburgh, UK. joancunningham66@yahoo.co.uken
dc.identifier.journalBritish Journal of Haematologyen

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