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Molecular Analysis of Pediatric Oligodendrogliomas Highlights Genetic Differences with Adult Counterparts and Other Pediatric Gliomas

机译:儿科少突胶质细胞瘤的分子分析突出显示了与成年伴侣和其他儿科神经胶质瘤的遗传差异

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Oligodendroglioma represents a distinctive neoplasm in adults but similar neoplasms occur rarely in children. We studied 20 cases of pediatric oligodendroglioma by SNP array (median age 9 years, range 1-19; 15 grade II and 5 grade III). Cytogenetic abnormalities were present in 8 (53%) grade II and all five anaplastic oligodendrogliomas. Most changes were in the form of deletion and copy neutral loss of heterozygosity (LOH). The most common abnormality was 1p deletion (n=5). Whole arm 1p19q co-deletion was present in three cases from adolescent patients and 9p loss in 3, including one low-grade oligodendroglioma with CDKN2A homozygous deletion. Common losses were largely limited to the anaplastic subset (n=5) and included 3q29 (n=3), 11p (n=3), 17q (n=3), 4q (n=2), 6p (n=2), 13q (n=2), 14q (n=2), 17p (n=2) and whole Ch 18 loss (n=2). Gains were non-recurrent except for whole Ch 7 (n=2) and gain on 12q (n=2) including the MDM2 locus. Possible germ line LOH (or uniparental disomy) was present in seven cases (35%), with one focal abnormality (22q13.1-13.2) in two. BRAF-KIAA1549 fusions and BRAF p.V600E mutations were absent (n=13 and 8). In summary, cytogenetic alterations in pediatric oligodendrogliomas are characterized mostly by genomic losses, particularly in anaplastic tumors.
机译:少突胶质细胞瘤在成人中代表独特的肿瘤,但是在儿童中很少发生类似的肿瘤。我们通过SNP阵列研究了20例小儿少突胶质细胞瘤(中位年龄9岁,范围1-19; II级15例,III级5例)。 8例(53%)II级和所有5例间变性少突胶质细胞瘤均存在细胞遗传学异常。大多数变化是以缺失和复制中性杂合性缺失(LOH)的形式。最常见的异常是1p缺失(n = 5)。青少年患者中有3例存在全臂1p19q共缺失,三例中存在9p缺失,其中1例伴有CDKN2A纯合缺失的低度少突胶质细胞瘤。普通损失主要限于变性间子集(n = 5),包括3q29(n = 3),11p(n = 3),17q(n = 3),4q(n = 2),6p(n = 2) ,13q(n = 2),14q(n = 2),17p(n = 2)和整个Ch 18损失(n = 2)。除整个Ch 7(n = 2)和包括MDM2基因座的12q(n = 2)以外,收益均为非经常性收益。可能的种系LOH(或单亲二体性)存在于7例(35%)中,其中2例发生局灶性异常(22q13.1-13.2)。不存在BRAF-KIAA1549融合体和BRAF p.V600E突变(n = 13和8)。总之,小儿少突胶质细胞瘤的细胞遗传学改变主要以基因组丢失为特征,特别是在间变性肿瘤中。

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