Journal
BRITISH JOURNAL OF HAEMATOLOGY
Volume 145, Issue 2, Pages 190-197Publisher
WILEY
DOI: 10.1111/j.1365-2141.2009.07611.x
Keywords
Shwachman-Diamond syndrome; myelodysplastic syndrome; acute leukaemia; karyotype instability; ageing
Categories
Funding
- Associazione Italiana Sindrome di Shwachman, AISS
- Ministero dell'Istruzione, dell'Universita della Ricerca, MIUR
- Associazione Italiana Ricerca sul Cancro, AIRC
- Consiglio Nazionale delle Ricerche, CNR
- European Union
- FP6 programs Allostem
- Fondazione IRCCS Policlinico
- Fondazione Banca del Monte di Lombardia
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An investigation of 22 new patients with Shwachman-Diamond syndrome (SDS) and the follow-up of 14 previously reported cases showed that (i) clonal chromosome changes of chromosomes 7 and 20 were present in the bone marrow (BM) of 16 out of 36 cases, but if non-clonal changes were taken into account, the frequency of anomalies affecting these chromosomes was 20/36: a specific SDS karyotype instability was thus confirmed; (ii) the recurrent isochromosome i(7)(q10) did not include short arm material, whereas it retained two arrays of D7Z1 alphoid sequences; (iii) the deletion del(20)(q11) involved the minimal region of deletion typical of myelodysplastic syndromes (MDS) and acute myeloid leukaemia (AML); (iv) only one patient developed MDS, during the rapid expansion of a BM clone with a chromosome 7 carrying additional material on the short arms; (v) the acquisition of BM clonal chromosome anomalies was age-related. We conclude that karyotype instability is part of the natural history of SDS through a specific mutator effect, linked to lacking SBDS protein, with consequent clonal anomalies of chromosomes 7 and 20 in BM, which may eventually promote MDS/AML with the patients' ageing.
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