Identification of novel fusion transcripts in meningioma.
Identification of novel fusion transcripts in meningioma.
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DOI：
10.1007/s11060-020-03599-1
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发表时间：
2020-09
影响因子：
3.9
通讯作者：
Patel AJ
中科院分区：
文献类型：
--
作者：
Khan AB;Gadot R;Shetty A;Bayley JC 5th;Hadley CC;Cardenas MF;Jalali A;Harmanci AS;Harmanci AO;Wheeler DA;Klisch TJ;Patel AJ
脑膜瘤是最常见的原发性颅内肿瘤。最近的下一代测序分析已经阐述了这种疾病的分子驱动因素。我们的目的是确定和表征脑膜瘤中的新融合基因。我们对来自140例患者的145例原发性脑膜瘤的RNA测序数据进行了二次分析，以检测融合基因。进行半定量rt-PCR以确认融合基因在原始肿瘤中的转录。进行全外显子组测序以鉴定每个肿瘤样品内的拷贝数变异。进行比较RNA seq分析以评估肿瘤内融合构建体的克隆性。我们在145个肿瘤样品中的5个中检测到6个融合事件（NOTCH 3-SETBP 1、NF 2-SPATA 13、SLC 6A 3-AGBL 3、2个患者中的PHF 19-FOXP 2和ITPK 1-FBP 2）。除一个事件（NF 2-SPATA 13）外，所有事件均导致极短的阅读框，使这些事件事实上成为无效等位基因。五名患者中有三名有儿童辐射史。在表达C型肿瘤中检测到六分之四的融合事件，这代表了最具侵袭性的脑膜瘤。我们通过半定量RT PCR验证了肿瘤组织中RNA转录物的存在。除了两个PHF 19-FOXP 2融合体外，所有融合体都表现出高度的克隆性。融合基因很少出现在脑膜瘤中，更可能在基因组不稳定程度更高的肿瘤（表达类型C）或有颅脑照射史的患者中发现。
Meningiomas are the most common primary intracranial tumor. Recent next generation sequencing analyses have elaborated the molecular drivers of this disease. We aimed to identify and characterize novel fusion genes in meningiomas. We performed a secondary analysis of our RNA sequencing data of 145 primary meningioma from 140 patients to detect fusion genes. Semi-quantitative rt-PCR was performed to confirm transcription of the fusion genes in the original tumors. Whole exome sequencing was performed to identify copy number variations within each tumor sample. Comparative RNA seq analysis was performed to assess the clonality of the fusion constructs within the tumor. We detected six fusion events (NOTCH3-SETBP1, NF2-SPATA13, SLC6A3-AGBL3, PHF19-FOXP2 in two patients, and ITPK1-FBP2) in five out of 145 tumor samples. All but one event (NF2-SPATA13) led to extremely short reading frames, making these events de facto null alleles. Three of the five patients had a history of childhood radiation. Four out of six fusion events were detected in expression type C tumors, which represent the most aggressive meningioma. We validated the presence of the RNA transcripts in the tumor tissue by semi-quantitative RT PCR. All but the two PHF19-FOXP2 fusions demonstrated high degrees of clonality. Fusion genes occur infrequently in meningiomas and are more likely to be found in tumors with greater degree of genomic instability (expression type C) or in patients with history of cranial irradiation.
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DOI：
10.1073/pnas.92.11.4917
发表时间：
1995-05-23
影响因子：
11.1
作者：
GOLUB, TR;BARKER, GF;GILLILAND, DG
通讯作者：
GILLILAND, DG
影响因子：
4.6
作者：
Collord G;Tarpey P;Kurbatova N;Martincorena I;Moran S;Castro M;Nagy T;Bignell G;Maura F;Young MD;Berna J;Tubio JMC;McMurran CE;Young AMH;Sanders M;Noorani I;Price SJ;Watts C;Leipnitz E;Kirsch M;Schackert G;Pearson D;Devadass A;Ram Z;Collins VP;Allinson K;Jenkinson MD;Zakaria R;Syed K;Hanemann CO;Dunn J;McDermott MW;Kirollos RW;Vassiliou GS;Esteller M;Behjati S;Brazma A;Santarius T;McDermott U
通讯作者：
McDermott U
DOI：
10.1126/science.1233009
发表时间：
2013-03-01
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
Clark VE;Erson-Omay EZ;Serin A;Yin J;Cotney J;Ozduman K;Avşar T;Li J;Murray PB;Henegariu O;Yilmaz S;Günel JM;Carrión-Grant G;Yilmaz B;Grady C;Tanrikulu B;Bakircioğlu M;Kaymakçalan H;Caglayan AO;Sencar L;Ceyhun E;Atik AF;Bayri Y;Bai H;Kolb LE;Hebert RM;Omay SB;Mishra-Gorur K;Choi M;Overton JD;Holland EC;Mane S;State MW;Bilgüvar K;Baehring JM;Gutin PH;Piepmeier JM;Vortmeyer A;Brennan CW;Pamir MN;Kiliç T;Lifton RP;Noonan JP;Yasuno K;Günel M
通讯作者：
Günel M
影响因子：
16.8
作者：
Ballare, Cecilia;Lange, Martin;Lapinaite, Audrone;Martin, Gloria Mas;Morey, Lluis;Pascual, Gloria;Liefke, Robert;Simon, Bernd;Shi, Yang;Gozani, Or;Carlomagno, Teresa;Aznar Benitah, Salvador;Di Croce, Luciano
通讯作者：
Di Croce, Luciano
影响因子：
2.7
作者：
Achey, Thomas S.;McEwen, Corey L.;Hamm, Mark W.
通讯作者：
Hamm, Mark W.