Two chromosome anomalies are frequently acquired in the bone marrow (BM) of patients with Shwachman-Diamond syndrome (SDS): an isochromosome for the long arms of chromosome 7, i(7)(q10), and an interstitial deletion of the long arms of chromosome 20, del(20)(q). The role of these changes was studied in relation to the risk of SDS patients to develop myelodysplasia (MDS) and/or acute myeloid leukaemia (AML), and both were shown to be associated with a rather low risk. We monitor since 1999 the cytogenetic picture of a cohort of Italian patients, who are now 89: eight of these patients showed clonal acquired chromosome anomalies in BM different from the two most common ones. These clonal changes were: a very complex karyotype (1 case), a deletion of the long arms of chromosome 7 (1 case), a deletion of the long arms of chromosome X (1 case), an unbalanced translocation t(3;6) (2 cases, associated with an interstitial deletion of chromosome 17 long arms in one of them), an unbalanced translocation t(1;16) (1 case), a complex rearrangement involving chromosomes 1 and 3 (1 case). Four of these patients progressed to MDS/AML. In 5 patients an uncommon anomaly was present, but associated with i(7)(q10) or del(20)(q), or both. These anomalies included an inversion (1 case) and a long-arm deletion (1 case) of chromosome 7, a complex unbalanced rearrangement of the del(20)(q) (2 cases), a very complex karyotype (1 case). Two of these patients developed MDS and AML. A number of anomalies were found in single cells, also on blood stimulated cultures, in 7 patients lacking the most common anomalies, and in 8 patients in association with i(7)(q10) or del(20)(q). Among these non-clonal changes a translocation t(7;14) was found in 5 cases, that is with a frequency higher than in control unaffected population.
UNCOMMON ACQUIRED CHROMOSOME ANOMALIES IN SHWACHMAN-DIAMOND SYNDROME
DE PAOLI, ELENA;VALLI, ROBERTO;MONTALBANO, GIUSEPPE;PASQUALI, FRANCESCO;MASERATI, EMANUELA
2016-01-01
Abstract
Two chromosome anomalies are frequently acquired in the bone marrow (BM) of patients with Shwachman-Diamond syndrome (SDS): an isochromosome for the long arms of chromosome 7, i(7)(q10), and an interstitial deletion of the long arms of chromosome 20, del(20)(q). The role of these changes was studied in relation to the risk of SDS patients to develop myelodysplasia (MDS) and/or acute myeloid leukaemia (AML), and both were shown to be associated with a rather low risk. We monitor since 1999 the cytogenetic picture of a cohort of Italian patients, who are now 89: eight of these patients showed clonal acquired chromosome anomalies in BM different from the two most common ones. These clonal changes were: a very complex karyotype (1 case), a deletion of the long arms of chromosome 7 (1 case), a deletion of the long arms of chromosome X (1 case), an unbalanced translocation t(3;6) (2 cases, associated with an interstitial deletion of chromosome 17 long arms in one of them), an unbalanced translocation t(1;16) (1 case), a complex rearrangement involving chromosomes 1 and 3 (1 case). Four of these patients progressed to MDS/AML. In 5 patients an uncommon anomaly was present, but associated with i(7)(q10) or del(20)(q), or both. These anomalies included an inversion (1 case) and a long-arm deletion (1 case) of chromosome 7, a complex unbalanced rearrangement of the del(20)(q) (2 cases), a very complex karyotype (1 case). Two of these patients developed MDS and AML. A number of anomalies were found in single cells, also on blood stimulated cultures, in 7 patients lacking the most common anomalies, and in 8 patients in association with i(7)(q10) or del(20)(q). Among these non-clonal changes a translocation t(7;14) was found in 5 cases, that is with a frequency higher than in control unaffected population.
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