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原发性胶质母细胞瘤患者杂合性缺失与较短生存期的关联。

Association of loss of heterozygosity with shorter survival in primary glioblastoma patients.

作者信息

Jesionek-Kupnicka D, Szybka M, Potemski P, Kulczycka-Wojdala D, Jaskólski D, Bieńkowski M, Skowroński W, Papierz W, Kordek R, Zawlik I

机构信息

Dorota Jesionek-Kupnicka, PhD, Department of Pathology, Chair of Oncology, Medical University of Lodz, Pomorska 251, 92-213 Lodz, Poland, fax +48 42 272 56 04, e-mail:

出版信息

Pol J Pathol. 2013 Dec;64(4):268-75. doi: 10.5114/pjp.2013.39335.

DOI:10.5114/pjp.2013.39335
PMID:24375041
Abstract

Loss of heterozygosity (LOH) co-deletion 1p/19q, MGMT promoter methylation and/or IDH1 mutation generally signify a better prognosis for patients with glioma. However, the influence of 1p/19q co-deletion and the LOH on other chromosomes in primary glioblastoma on survival is still debatable. The aim of our study was to identify LOH on chromosomes 1p, 19q, 9p, 10q, 13q, and 17p, and evaluate their impact either alone or 1p/19q co-deletion or by groups of LOH on the overall survival of 42 primary glioblastoma patients without an oligodendroglial component. These patients were additionally molecularly characterized for EGFR amplification, IDH1 mutations and TP53 mutations. We assessed their influence on the overall survival of glioblastoma patients. LOH in at least one of the loci on all examined chromosomes was detected in 65% of cases and was significantly associated with shorter overall survival (hazard ratio 3.07; 95% CI: 1.29-7.31, p = 0.006). 1p/19q co-deletion was infrequent (7.14%) and had no impact on overall survival. Our results indicate that in primary glioblastoma a specific LOH group analysis may be important for the prognosis. LOH 1p/19q co-deletion is rare in glioblastoma without an oligodendroglial component and has no impact on patient survival.

摘要

杂合性缺失(LOH)1p/19q共缺失、MGMT启动子甲基化和/或IDH1突变通常预示着胶质瘤患者预后较好。然而,1p/19q共缺失和原发性胶质母细胞瘤中其他染色体上的杂合性缺失对生存的影响仍存在争议。我们研究的目的是确定1p、19q、9p、10q、13q和17p染色体上的杂合性缺失,并评估它们单独或与1p/19q共缺失或按杂合性缺失组对42例无少突胶质细胞成分的原发性胶质母细胞瘤患者总生存的影响。这些患者还进行了表皮生长因子受体(EGFR)扩增、IDH1突变和TP53突变的分子特征分析。我们评估了它们对胶质母细胞瘤患者总生存的影响。在65%的病例中检测到所有检测染色体上至少一个位点存在杂合性缺失,且其与较短的总生存显著相关(风险比3.07;95%可信区间:1.29 - 7.31,p = 0.006)。1p/19q共缺失不常见(7.14%),对总生存无影响。我们的结果表明,在原发性胶质母细胞瘤中,特定的杂合性缺失组分析对预后可能很重要。在无少突胶质细胞成分的胶质母细胞瘤中,1p/19q共缺失罕见,且对患者生存无影响。

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