Clinical and histological characteristics of recurrent oligodendroglial tumors: comparison between primary and recurrent tumors in 18 cases

Clinical and histological characteristics of recurrent oligodendroglial tumors: comparison between primary and recurrent tumors in 18 cases
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DOI:
10.1007/s10014-012-0119-8
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发表时间:
2013-07-01
影响因子:
3.3
通讯作者:
Tominaga, Teiji
Tominaga, Teiji
中科院分区:
医学3区
文献类型:
--
作者:
Kanamori, Masayuki;Kumabe, Toshihiro;Tominaga, Teiji

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采用异柠檬酸脱氢酶(IDH)1和2基因突变的测序分析,Ki-67和p53免疫组化,以及染色体1 p和19 q杂合性丢失(1 p/19 q共缺失)的荧光原位杂交,研究了18对原发和复发少突胶质细胞肿瘤的组织学和遗传学特征的变化。8例WHO Ⅱ级肿瘤中5例发生恶性转化,10例WHO Ⅲ级肿瘤中0例进展为胶质母细胞瘤。18例中13例携带IDH 1基因突变。IDH 1突变的肿瘤倾向于生存更长时间,即使在复发后,但新发展的微血管增生,肿瘤坏死和Ki-67标记指数升高是常见的。13例IDH 1突变肿瘤中有11例有1 p/19 q共缺失或p53核表达,但所有5例IDH 1/2野生型肿瘤均无。所有病例复发时1 p/19 q状态相同,但6例IDH 1突变和1 p/19 q共缺失病例中有2例p53核表达由阴性变为阳性。WHO II级少突胶质细胞肿瘤恶性转化率高,可能涉及IDH 1突变和1 p/19 q共缺失的肿瘤中的p53。IDH 1突变的肿瘤具有更积极的组织学表型,尽管他们的预后更好。
Changes in histological and genetic characteristics were investigated in 18 paired primary and recurrent oligodendroglial tumors, using sequencing analysis for isocitrate dehydrogenase (IDH) 1 and 2 gene mutation, Ki-67 and p53 immunohistochemistry, and fluorescent in situ hybridization for loss of heterozygosity of chromosomes 1p and 19q (1p/19q co-deletion). Malignant transformation occurred in 5 of 8 cases with World Health Organization (WHO) grade II tumors, but in 0 of 10 cases with WHO grade III tumors progressing to glioblastoma. Thirteen of the 18 cases carried IDH1 gene mutation. Tumors with IDH1 mutation tended to survive for longer, even after recurrence, but newly developed microvascular proliferation, tumor necrosis, and elevated Ki-67 labeling index were common. Eleven of the 13 IDH1-mutation tumors had either 1p/19q co-deletion or nuclear expression of p53, but all 5 IDH1/2 wild-type tumors had neither. All cases had the same profile for 1p/19q status at recurrence, but nuclear expression of p53 changed from negative to positive in 2 of 6 cases with IDH1 mutation and 1p/19q co-deletion. WHO grade II oligodendroglial tumors show a high rate of malignant transformation, possibly involving p53 in tumors with IDH1 mutation and 1p/19q co-deletion. Tumors with IDH1 mutation had a more aggressive histological phenotype despite their better prognosis.