Cytogenetic studies in 112 cases of untreated myelodysplastic syndromes

Solé, Françesc; Prieto, Félix; Badía, L; Woessner, S; Florensa, Lourdes; Caballı́n, Marı́a Rosa; Coll, Mercè Durfort i; Besses, Carles; Sans-Sabrafén, J

doi:10.1016/0165-4608(92)90315-y

Cited by 62 publications

(19 citation statements)

References 24 publications

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“…6,13,14 LOH on both arms of chromosome 7 was identified in two cases (Nos 4 and 12), indicating that these samples likely have monosomy chromosome 7, as has been frequently observed in MDS. 9,15 Representative examples of autoradiograms of LOH on chromosomal arms 1p, 1q, 18q and 20q are shown in Figure 2.…”

Section: Resultsmentioning

confidence: 99%

Allelotype analysis of the myelodysplastic syndrome

et al. 2000

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Myelodysplastic syndromes (MDS) are a group of clonal hematologic disorders found predominantly in the elderly. The molecular mechanisms underlying the development of MDS remain obscure. In order to begin to identify tumor suppressor genes involved in these disorders, we performed a detailed microsatellite allelotype of chromosomal deletions associated with MDS. DNAs from both bone marrow and peripheral blood of 32 MDS patients were studied using 84 highly informative microsatellite markers on all autosomal arms, excluding the short arms of the acrocentric chromosomes. A high percentage of loss of heterozygosity (LOH) was identified on chromosome 5q (40% of informative cases), 7q (45%), 17p (23%) and 20q (20%), which corresponds to the most common cytogenetic abnormalities reported in MDS. In addition, a high incidence of LOH (у20%) was observed on chromosomal arms which had not been previously reported including 1p (36%), 1q (35%), and 18q (23%). This extensive allelotype analysis focuses attention on several novel genomic regions that probably contain novel tumor suppressor genes whose loss of function contributes to the development of MDS. Leukemia (2000) 14, 805-810.

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Section: Resultsmentioning

confidence: 99%

Allelotype analysis of the myelodysplastic syndrome

et al. 2000

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“…Numerous reports have demonstrated that MDS karyotype abnormalities significantly affect OS and the risk of MDS/AML progression, [6][7][8][9][10][11][12][13][14][15][18][19][20][21][22][23][24][25][26] even in patients undergoing intensive chemotherapies. 27,28 Therefore, in 1997 the IPSS 15 grouped MDS patients (either untreated or submitted to low-dose chemotherapy or growth factors only) into three prognostically different cytogenetic categories and included the chromosome pattern in a new scoring system which has been validated by various reports.…”

Section: Discussionmentioning

confidence: 99%

“…[3][4][5][6][7][8][9][10][11][12][13][14][15][18][19][20][21][22][23][24][25][26] Chromosome defects were more common in RAEB and RAEB-t than in RARS and RA. Deletions or gains of entire chromosomes had an incidence of 60.4% and translocations of only 1.8%.…”

Section: Discussionmentioning

confidence: 99%

Incidence and prognostic significance of karyotype abnormalities in de novo primary myelodysplastic syndromes: a study on 331 patients from a single institution

et al. 2005

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The impact of clinical parameters, International Prognostic Scoring System (IPSS) scores/cytogenetic categories, and some single cytogenetic defects on overall survival (OS) and time to myelodysplastic syndromes (MDS)/AML progression (progression-free interval (PFI)) was evaluated in 331 MDS patients. Statistical analysis demonstrated that OS and PFI were significantly affected by all these parameters. Since single 7q-showed a better survival than the poor IPSS cytogenetic category (P ¼ 0.009), it was considered as a new prognostic entity ('modified IPSS categories'). In multivariate analysis OS was significantly influenced by age, marrow blast cell percentage, number of cytopenias and either modified or standard IPSS cytogenetic categories; hazard ratios for MDS/AML progression were influenced by all the former, except for age and cytopenias. Multivariate analysis of del (7)(q31q35) confirmed the results of univariate analysis, but the Akaike Information Criterion showed no difference in evaluating OS and PFI between the modified and standard IPSS cytogenetic grouping. In conclusion, (i) chromosome defects as grouped by IPSS and blast cell percentage are the most relevant parameters for predicting OS and PFI; (ii) the prognostic power of the IPSS cytogenetic grouping is not ameliorated by the introduction of del(7)(q31q35) as a new entity; (iii) complex karyotypes have a prognostic value independent of blast cell percentage.

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“…One case was of ALL showing the balanced translocation as part of a complex karyotype. 35 The remaining four reported cases showed the derived chromosome 11 as the unbalanced form of the translocation in association with other abnormalities, B-ALL (one case), 36 MDS (two cases) 37,38 and multiple myeloma (MM) (1 case). 39 4.…”

Section: A Overall Cases In 'Other' Groupmentioning

confidence: 99%

Ten novel 11q23 chromosomal partner sites

Cuneo²,

et al. 1998

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The MLL gene located at 11q23 has been described as a 'promiscuous' gene due its involvement with a large number of genetic partners. The EU Concerted Action Workshop on 11q23 provided 550 cases for study of which 82 showed abnormalities which did not involve the established translocations or deletion of 11q23. In these 'other' cases, which included inversions and duplications, 11q23 was found to be involved with 25 chromosome partners of which 10 had not been previously reported. These were 1q31, 4p11, 6q13, 8q21, 10q22, 10q25, 11q11, 11q21, 13q34 and 18q23. This study demonstrated the value of the Workshop, in confirming the diversity of chromosomal partner sites involved with 11q23 and in the identification of new partners.

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Cytogenetic studies in 112 cases of untreated myelodysplastic syndromes

Cited by 62 publications

References 24 publications

Allelotype analysis of the myelodysplastic syndrome

Allelotype analysis of the myelodysplastic syndrome

Incidence and prognostic significance of karyotype abnormalities in de novo primary myelodysplastic syndromes: a study on 331 patients from a single institution

Ten novel 11q23 chromosomal partner sites

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