In this presentation I will summarize main cytogenetic data that we have collected since 1999 in an Italian cohort of 73 patients with SDS: the analyses have been performed on bone marrow (BM) and peripheral blood (PB), and the methods used include chromosome analysis, Fluorescent In Situ Hybridization (FISH), array-based Comparative Genomic Hybridization (a-CGH). The patients were monitored since diagnosis at least once per year. The results concern the acquired clonal anomalies found in BM and there possible role; another group of informations comes out from the analysis of changes in the cytogenetic picture during the follow-up. In particular: • The patients who showed chromosome anomalies in BM, either at onset or during the follow-up, were 29; • The isochromosome i(7)(q10), one of the most frequent anomalies in BM of SDS patients, was analyzed in 15 patients; • In 2 patients i(7)(q10) was found also in DNA from PB: the proportion of abnormal cells was comparable to neutrophils percentage, thus indicating that mature circulating neutrophils bear the anomaly; • The other frequent anomaly, the interstitial deletion del(20)(q11.21q13.32), was found in 11 cases, and in 7 the a-CGH defined the region lost, which included in all cases the region of the locus EIF6; • Other peculiar and informative anomalies were studied in 6 patients; • During the follow-up we established that no clonal evolution took place in any of the patients with i(7)(q10), or with del(20), but in 8 cases, as well as in other 14 informative similar cases from the literature, the changes of the cytogenetic BM picture consisted in new anomalies acquired in independent clones; • The i(7)(q10) and the del(20) are mutually exclusive, as no cell with both the anomalies was ever observed; • 8 out of 22 patients showed an initial clone with the i(7)(q10) and then anomalies different from del(20): only two of them remained in stable not severe condition, and three evolved into MDS and AML; • 4 out of 22 patients showed an initial clone with the del(20) and then anomalies different from i(7)(q10): one remained in stable good condition, three developed MDS and AML; • 6 patients shared both i(7)(q10) and del(20): four remained in stable not severe condition, two progressed to MDS. The BM clones with the i(7)(q10) and the del(20)(q) probably never give rise to the evolution into MDS/AML, but 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. The other relevant complication of SDS, BM aplasia, was never related to the presence of specific chromosome anomalies.

Chromosome anomalies and cytogenetic follow-up of SDS Italian patients.

MASERATI, EMANUELA
2013-01-01

Abstract

In this presentation I will summarize main cytogenetic data that we have collected since 1999 in an Italian cohort of 73 patients with SDS: the analyses have been performed on bone marrow (BM) and peripheral blood (PB), and the methods used include chromosome analysis, Fluorescent In Situ Hybridization (FISH), array-based Comparative Genomic Hybridization (a-CGH). The patients were monitored since diagnosis at least once per year. The results concern the acquired clonal anomalies found in BM and there possible role; another group of informations comes out from the analysis of changes in the cytogenetic picture during the follow-up. In particular: • The patients who showed chromosome anomalies in BM, either at onset or during the follow-up, were 29; • The isochromosome i(7)(q10), one of the most frequent anomalies in BM of SDS patients, was analyzed in 15 patients; • In 2 patients i(7)(q10) was found also in DNA from PB: the proportion of abnormal cells was comparable to neutrophils percentage, thus indicating that mature circulating neutrophils bear the anomaly; • The other frequent anomaly, the interstitial deletion del(20)(q11.21q13.32), was found in 11 cases, and in 7 the a-CGH defined the region lost, which included in all cases the region of the locus EIF6; • Other peculiar and informative anomalies were studied in 6 patients; • During the follow-up we established that no clonal evolution took place in any of the patients with i(7)(q10), or with del(20), but in 8 cases, as well as in other 14 informative similar cases from the literature, the changes of the cytogenetic BM picture consisted in new anomalies acquired in independent clones; • The i(7)(q10) and the del(20) are mutually exclusive, as no cell with both the anomalies was ever observed; • 8 out of 22 patients showed an initial clone with the i(7)(q10) and then anomalies different from del(20): only two of them remained in stable not severe condition, and three evolved into MDS and AML; • 4 out of 22 patients showed an initial clone with the del(20) and then anomalies different from i(7)(q10): one remained in stable good condition, three developed MDS and AML; • 6 patients shared both i(7)(q10) and del(20): four remained in stable not severe condition, two progressed to MDS. The BM clones with the i(7)(q10) and the del(20)(q) probably never give rise to the evolution into MDS/AML, but 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. The other relevant complication of SDS, BM aplasia, was never related to the presence of specific chromosome anomalies.
2013
Maserati, Emanuela
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11383/1854118
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus ND
  • ???jsp.display-item.citation.isi??? ND
social impact