Abstract:
:Results of bone marrow transplantation (BMT) in patients with Fanconi's anaemia (FA) in transformation are very poor and only a few cases with favourable outcome have been reported. We present the follow-up of two FA-myelodysplastic syndrome (MDS) patients with monosomy 7 and complex karyotype implicating chromosome 1. Both relapsed with acute myeloid leukaemia (AML) following an allogeneic BMT from an HLA-identical brother. The patients showed clonal cytogenetic evolution coinciding with the leukaemic transformation. In one patient, fluorescence in situ hybridization using X and Y chromosome probes detected an increase of host cells before clinical relapse. Both patients received a successful second allogeneic BMT from the same donor using a more intensive treatment regimen and remain in clinical and cytogenetic remission more than 3 years later.
journal_name
Br J Haematoljournal_title
British journal of haematologyauthors
Ortega M,Caballín MR,Ortega JJ,Olive T,Coll MDdoi
10.1046/j.1365-2141.2000.02334.xsubject
Has Abstractpub_date
2000-10-01 00:00:00pages
329-33issue
1eissn
0007-1048issn
1365-2141pii
bjh2334journal_volume
111pub_type
杂志文章abstract::In this study we have investigated the molecular basis for a mild form of beta-thalassaemia in three patients of Italian descent. In two, belonging to different families and affected by a mild and late-presenting form of thalassaemia major, direct sequencing of amplified DNA detected a C----T substitution at position ...
journal_title:British journal of haematology
pub_type: 杂志文章
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journal_title:British journal of haematology
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journal_title:British journal of haematology
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journal_title:British journal of haematology
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journal_title:British journal of haematology
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journal_title:British journal of haematology
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journal_title:British journal of haematology
pub_type: 杂志文章
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journal_title:British journal of haematology
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更新日期:1996-09-01 00:00:00
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