Diagnostic accuracy of 1p/19q codeletion tests in oligodendroglioma: A comprehensive meta-analysis based on a Cochrane systematic review.
Diagnostic accuracy of 1p/19q codeletion tests in oligodendroglioma: A comprehensive meta-analysis based on a Cochrane systematic review.
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DOI：
10.1111/nan.12790
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发表时间：
2022-06
影响因子：
5
通讯作者：
Kurian, Kathreena M.
中科院分区：
文献类型：
--
作者：
Brandner, Sebastian;McAleenan, Alexandra;Jones, Hayley E.;Kernohan, Ashleigh;Robinson, Tomos;Schmidt, Lena;Dawson, Sarah;Kelly, Claire;Leal, Emmelyn Spencer;Faulkner, Claire L.;Palmer, Abigail;Wragg, Christopher;Jefferies, Sarah;Vale, Luke;Higgins, Julian P. T.;Kurian, Kathreena M.
关键词：
染色体臂1 p和19 q的共缺失，结合异柠檬酸脱氢酶1或2基因的突变，是少突胶质细胞瘤、IDH突变体和1 p/19 q共缺失的分子诊断标准。1 p/19 q共缺失是一种诊断标志物，可以确定和预测IDH突变型肿瘤的最佳药物反应。我们进行了科克伦综述和简单的经济学分析，以建立最敏感，特异性和成本效益的技术来确定1 p/19 q共缺失状态。基于荧光原位杂交（FISH）和聚合酶链反应（PCR）的杂合性缺失（洛）检测方法被视为参考标准。大多数技术（FISH、显色原位杂交[CISH]、PCR、真实的实时PCR、多重连接依赖性探针扩增[MLPA]、单核苷酸多态性[SNP]阵列、比较基因组杂交[CGH]、阵列CGH、下一代测序[NGS]、质谱和NanoString）显示出良好的灵敏度（很少的假阴性）用于检测胶质瘤中的1 p/19 q共缺失，无论是否使用基于FISH或PCR的洛作为参考标准。当以FISH作为参考标准时，NGS和SNP阵列对1 p/19 q共缺失都具有高特异性（更少的假阳性）。我们的研究结果表明，G显带是不是一个合适的测试1 p/19 q分析。在这些限制范围内，考虑到每次诊断的成本并使用FISH作为参考，MLPA比其他测试稍微更具成本效益，尽管这些经济分析受到可用参数范围，时间范围和来自多个医疗机构的数据的限制。在这篇科克伦综述的总结中，我们分析了1 p/19 q共缺失检测在少突胶质细胞瘤中的诊断准确性，以建立最敏感、特异和成本效益最高的技术。基于荧光原位杂交（FISH）和聚合酶链反应（PCR）的杂合性缺失（洛）检测方法被视为参考标准。下一代测序和单核苷酸多态性阵列被发现具有高特异性。我们发现，使用两种不同的技术，基于PCR的洛缺失和FISH，研究之间的总生存率风险比没有差异。
Codeletion of chromosomal arms 1p and 19q, in conjunction with a mutation in the isocitrate dehydrogenase 1 or 2 gene, is the molecular diagnostic criterion for oligodendroglioma, IDH mutant and 1p/19q codeleted. 1p/19q codeletion is a diagnostic marker and allows prognostication and prediction of the best drug response within IDH‐mutant tumours. We performed a Cochrane review and simple economic analysis to establish the most sensitive, specific and cost‐effective techniques for determining 1p/19q codeletion status. Fluorescent in situ hybridisation (FISH) and polymerase chain reaction (PCR)‐based loss of heterozygosity (LOH) test methods were considered as reference standard. Most techniques (FISH, chromogenic in situ hybridisation [CISH], PCR, real‐time PCR, multiplex ligation‐dependent probe amplification [MLPA], single nucleotide polymorphism [SNP] array, comparative genomic hybridisation [CGH], array CGH, next‐generation sequencing [NGS], mass spectrometry and NanoString) showed good sensitivity (few false negatives) for detection of 1p/19q codeletions in glioma, irrespective of whether FISH or PCR‐based LOH was used as the reference standard. Both NGS and SNP array had a high specificity (fewer false positives) for 1p/19q codeletion when considered against FISH as the reference standard. Our findings suggest that G banding is not a suitable test for 1p/19q analysis. Within these limits, considering cost per diagnosis and using FISH as a reference, MLPA was marginally more cost‐effective than other tests, although these economic analyses were limited by the range of available parameters, time horizon and data from multiple healthcare organisations. In this summary of a Cochrane review, we analysed the diagnostic accuracy of 1p/19q codeletion tests in oligodendroglioma, to establish the most sensitive, specific and cost‐effective techniques. Fluorescent in situ hybridisation (FISH) and polymerase chain reaction (PCR)‐based loss of heterozygosity (LOH) test methods were considered as reference standards. Next‐generation sequencing and single nucleotide polymorphism arrays were found to have a high specificity. We found no difference in the hazard ratio for overall survival between studies, using two different techniques, PCR‐based LOH and FISH.
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影响因子：
64.8
作者：
Capper D;Jones DTW;Sill M;Hovestadt V;Schrimpf D;Sturm D;Koelsche C;Sahm F;Chavez L;Reuss DE;Kratz A;Wefers AK;Huang K;Pajtler KW;Schweizer L;Stichel D;Olar A;Engel NW;Lindenberg K;Harter PN;Braczynski AK;Plate KH;Dohmen H;Garvalov BK;Coras R;Hölsken A;Hewer E;Bewerunge-Hudler M;Schick M;Fischer R;Beschorner R;Schittenhelm J;Staszewski O;Wani K;Varlet P;Pages M;Temming P;Lohmann D;Selt F;Witt H;Milde T;Witt O;Aronica E;Giangaspero F;Rushing E;Scheurlen W;Geisenberger C;Rodriguez FJ;Becker A;Preusser M;Haberler C;Bjerkvig R;Cryan J;Farrell M;Deckert M;Hench J;Frank S;Serrano J;Kannan K;Tsirigos A;Brück W;Hofer S;Brehmer S;Seiz-Rosenhagen M;Hänggi D;Hans V;Rozsnoki S;Hansford JR;Kohlhof P;Kristensen BW;Lechner M;Lopes B;Mawrin C;Ketter R;Kulozik A;Khatib Z;Heppner F;Koch A;Jouvet A;Keohane C;Mühleisen H;Mueller W;Pohl U;Prinz M;Benner A;Zapatka M;Gottardo NG;Driever PH;Kramm CM;Müller HL;Rutkowski S;von Hoff K;Frühwald MC;Gnekow A;Fleischhack G;Tippelt S;Calaminus G;Monoranu CM;Perry A;Jones C;Jacques TS;Radlwimmer B;Gessi M;Pietsch T;Schramm J;Schackert G;Westphal M;Reifenberger G;Wesseling P;Weller M;Collins VP;Blümcke I;Bendszus M;Debus J;Huang A;Jabado N;Northcott PA;Paulus W;Gajjar A;Robinson GW;Taylor MD;Jaunmuktane Z;Ryzhova M;Platten M;Unterberg A;Wick W;Karajannis MA;Mittelbronn M;Acker T;Hartmann C;Aldape K;Schüller U;Buslei R;Lichter P;Kool M;Herold-Mende C;Ellison DW;Hasselblatt M;Snuderl M;Brandner S;Korshunov A;von Deimling A;Pfister SM
通讯作者：
Pfister SM
影响因子：
3.9
作者：
Ghasimi S;Wibom C;Dahlin AM;Brännström T;Golovleva I;Andersson U;Melin B
通讯作者：
Melin B
影响因子：
7.5
作者：
Burger, PC;Minn, AY;Feuerstein, BG
通讯作者：
Feuerstein, BG
影响因子：
4.1
作者：
Dubbink, Hendrikus J.;Atmodimedjo, Peggy N.;Dinjens, Winand N. M.
通讯作者：
Dinjens, Winand N. M.
影响因子：
--
作者：
Gadji, Macoura;Fortin, David;Drouin, Regen
通讯作者：
Drouin, Regen