During the follow-up of 71 Italian patients affected with Shwachman-Diamond syndrome (SDS, OMIM #260400), we observed some peculiarities concerning data obtained with cytogenetic methods and array-Comparative Genomic Hybridization (a-CGH).Our results, together witha review ofsimilar data from the literature,showed features relevant in prognostic evaluation of the risk of developingmyelodysplastic syndromes (MDS) and acute myeloid leukemia (AML) or bone marrow (BM) aplasia: 1 –No clonal evolution took place in anyof the cases with the most frequent chromosome anomalies in BM, theisochromosomei(7)(q10), and the interstitial deletionint del(20)(q11.21q13.32). 2 –In the 22 informative cases in which changes of the cytogenetic BM picture took place during the follow-up, new anomalies were always acquired in independent clones. 3 –The i(7)(q10) and the int del(20) seem to be mutually exclusive, as no cell with both the anomalies was ever observed. 4 – Out of 8 patients with an initial clone with the i(7)(q10) and then with anomalies different from int del(20), only two remained in stable not severe condition, and three evolved into MDS and AML. 5 –Out of 4 patients with an initial clone with the int del(20) and then with anomalies different from i(7)(q10), one remained in stable good condition, three developed MDS and AML. 6 –Out of the 6 patients who shared both i(7)(q10) and int del(20), four remained in stable not severe condition, two progressed to MDS. The i(7)(q10) and the int del(20) areconsidered good prognostic signs in SDS, but their effect is limited to the BM cells in which they are present, whereas the risk of aplasia is independent from them. The prognostic evaluation should take into account also the possibility, not rare, of other chromosome anomalies arising in independent clones, which may be linked to a malignant outcome.
Array-based Comparative Genomic Hybridization in Shwachman-Diamond syndrome: results in 24 patients
VALLI, ROBERTO;MARLETTA, CRISTINA;MARE, LYDIA;MONTALBANO, GIUSEPPE;LO CURTO, FRANCESCO;PASQUALI, FRANCESCO;MASERATI, EMANUELA
2013-01-01
Abstract
During the follow-up of 71 Italian patients affected with Shwachman-Diamond syndrome (SDS, OMIM #260400), we observed some peculiarities concerning data obtained with cytogenetic methods and array-Comparative Genomic Hybridization (a-CGH).Our results, together witha review ofsimilar data from the literature,showed features relevant in prognostic evaluation of the risk of developingmyelodysplastic syndromes (MDS) and acute myeloid leukemia (AML) or bone marrow (BM) aplasia: 1 –No clonal evolution took place in anyof the cases with the most frequent chromosome anomalies in BM, theisochromosomei(7)(q10), and the interstitial deletionint del(20)(q11.21q13.32). 2 –In the 22 informative cases in which changes of the cytogenetic BM picture took place during the follow-up, new anomalies were always acquired in independent clones. 3 –The i(7)(q10) and the int del(20) seem to be mutually exclusive, as no cell with both the anomalies was ever observed. 4 – Out of 8 patients with an initial clone with the i(7)(q10) and then with anomalies different from int del(20), only two remained in stable not severe condition, and three evolved into MDS and AML. 5 –Out of 4 patients with an initial clone with the int del(20) and then with anomalies different from i(7)(q10), one remained in stable good condition, three developed MDS and AML. 6 –Out of the 6 patients who shared both i(7)(q10) and int del(20), four remained in stable not severe condition, two progressed to MDS. The i(7)(q10) and the int del(20) areconsidered good prognostic signs in SDS, but their effect is limited to the BM cells in which they are present, whereas the risk of aplasia is independent from them. The prognostic evaluation should take into account also the possibility, not rare, of other chromosome anomalies arising in independent clones, which may be linked to a malignant outcome.
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