Trisomy 13 and myelodysplastic syndrome

Beverstock, Geoffrey C.; Ploem, J. E.; Wessels, H.; Keur, Daan v.d.; Mollevanger, P.

doi:10.1016/0165-4608(90)90117-s

Cited by 13 publications

(4 citation statements)

References 7 publications

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“…So, these data confirm the poor prognostic significance of 17p abnormalities [10,13,17] and for the first time suggest that also 113 might be associated with an unfavourable clinical outcome. Trisomy 13 has been rarely observed in MDS [42] and in AML it is strongly associated with AML1/RUNX mutations and increased FLT3 expression [43].…”

Section: Discussionmentioning

confidence: 99%

Validation of the new comprehensive cytogenetic scoring system (NCCSS) on 630 consecutive de novo MDS patients from a single institution

et al. 2013

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This study evaluated whether the NCCSS truly improves the prognostic stratification of 630 consecutive de novo MDS patients and established which cytogenetic grouping [NCCSS or International Prognostic Scoring System (IPSS)], when combined with the WHO classification, best predicted the clinical outcome of myelodysplastic syndromes (MDS). The frequency of chromosomal defects was 53.8%. Clinical parameters, including number of cytopenias, WHO classification, IPSS cytogenetic categories and scores, NCCSS were all relevant for overall survival (OS) and leukemia-free survival (LFS) and were included in six distinct multivariate models compared by the Akaike Information Criterion (AIC). The most effective model to predict OS included the number of cytopenias, the WHO classification and the NCCSS, whereas the model including the number of cytopenias, blast cell percentage and the NCCSS and the model including the number of cytopenias the WHO classification and the NCCSS were almost equally effective to predict LFS. In conclusion, the NCCS (i) improves the prognostic stratification of the good and poor IPSS cytogenetic categories by introducing the very good and the very poor categories; (ii) is still incomplete in establishing the prognostic relevance of rare/double defects, (ii) applied to patients who receive supportive treatment only identifies five different prognostic subgroups, but applied to patients treated with specific therapies reveals only a trend toward a significantly different OS and LFS when patients of the poor and intermediate cytogenetic categories are compared, (iii) combined with the WHO classification is much more effective than the IPSS in predicting MDS clinical outcome. Am. J. Hematol. 88:120-129,

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Section: Discussionmentioning

confidence: 99%

Validation of the new comprehensive cytogenetic scoring system (NCCSS) on 630 consecutive de novo MDS patients from a single institution

et al. 2013

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“…Fluorescent in situ hybridisation (FISH) with probe L.1.84, specific for the centromere of chromosome no. 18, was performed, using a previously described technique (Beverstock et al 1990). The extra marker chromosome was unequivocally identified as a ring chromosome no.…”

Section: Cytogeneticsmentioning

confidence: 99%

46,XY del(18) (q21.3q22.2) with mosaicism of r(18) and a milder form of the 18q— syndrome

Maaswinkel-Mooij¹,

Jong²,

Beverstock

1993

Clinical Genetics

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“…The X-chromosome centromere-specific probe pBamX5 (Willard et al 1983) was labelled by standard nick translation with biotin-1 1-UTP (Sigma, U.S.A.). The unstained chromosome preparations were treated according to the procedure previously described by Beverstock et al (1990). Four positive, X-chromosome specific signals were seen not only in all metaphases but also in almost all interphase nuclei.…”

Section: In Sifu Hybridisationmentioning

confidence: 99%