Genomic profiling of atypical meningiomas associates gain of 1q with poor clinical outcome.
Genomic profiling of atypical meningiomas associates gain of 1q with poor clinical outcome.
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DOI：
10.1097/nen.0b013e3181ba3952
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发表时间：
2009-10
影响因子：
3.2
通讯作者：
Mohapatra G
中科院分区：
文献类型：
--
作者：
Gabeau-Lacet D;Engler D;Gupta S;Scangas GA;Betensky RA;Barker FG 2nd;Loeffler JS;Louis DN;Mohapatra G
非典型脑膜瘤表现出异质性的临床结果。目前尚不清楚哪些非典型脑膜瘤需要通过手术和放射治疗与单独手术进行积极的多方式治疗以防止复发。这些肿瘤的详细分子遗传学特征是必要的，以更好地了解其发病机制，并确定遗传标记。寡核苷酸阵列比较基因组杂交用于鉴定1987年8月至2006年9月间在马萨诸塞州总医院切除的47例原发性非典型脑膜瘤中常见的遗传变异。85%的样本表现出22 q的丢失，包括NF 2基因。第二个最常见的丢失区域局限于1号染色体的短臂，特别是1 p33-p36.2（70%）和1p13.2（64%）。在超过50%的样本中检测到的其他频繁丢失区域包括14 q，10 q，8 q，7 p，21 q，19，9 q34和4p 16。沿着1 q（59%）、17 q（44%）、9 q34（30%）和7 q36（26%）检测到频繁的增益区域。对所有常见的拷贝数改变进行单变量逐标记分析显示，1 q增加与较短的无进展生存期之间存在潜在相关性。考虑到非典型脑膜瘤的异质性治疗结果，在多机构的努力下对大规模和局灶性基因组改变的调查可能有助于澄清临床实用的分子遗传学特征。
Atypical meningiomas exhibit heterogeneous clinical outcomes. It is unclear which atypical meningiomas require aggressive multimodality treatment with surgery and radiation therapy versus surgery alone to prevent recurrence. Detailed molecular-genetic characterization of these neoplasms is necessary to better understand their pathogenesis and to identify genetic markers. Oligonucleotide array comparative genomic hybridization was used to identify frequent genetic alterations in 47 primary atypical meningiomas resected at Massachusetts General Hospital between August 1987 and September 2006. Eighty five percent of samples exhibited loss of 22q, including the NF2 gene. The second most frequent regions of loss were confined to the short arm of chromosome 1, particularly 1p33-p36.2 (70%) and 1p13.2 (64%). Other frequent regions of loss, detected in more than 50% of samples, included 14q, 10q, 8q, 7p, 21q, 19, 9q34, and 4p16. Frequent regions of gain were detected along 1q (59%), 17q (44%), 9q34 (30%) and 7q36 (26%). Univariate marker-by-marker analysis of all frequently identified copy number alterations showed potential correlation between gain of 1q and shorter progression free survival. Given the heterogeneous treatment outcomes of atypical meningioma, investigation of large-scale and focal genomic alterations in multi-institutional efforts may help clarify molecular-genetic signatures of clinical utility.