IDH-mutant astrocytoma with EGFR amplification-Genomic profiling in four cases and review of literature.
IDH-mutant astrocytoma with EGFR amplification-Genomic profiling in four cases and review of literature.
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DOI：
10.1093/noajnl/vdac067
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发表时间：
2022-01
期刊：
影响因子：
--
通讯作者：
Tsankova, Nadejda M.
中科院分区：
文献类型：
--
作者：
Umphlett, Melissa;Bilal, Khawaja Hasan;Martini, Michael L.;Suwala, Abigail K.;Ahuja, Sadhna;Rashidipour, Omid;Germano, Isabelle;Snuderl, Matija;Morgenstern, Peter;Tsankova, Nadejda M.
IDH突变型星形细胞瘤与其IDH野生型4级（胶质母细胞瘤）对应物相比具有显著更好的预后。2021年CNS WHO分类中出现了几种分子诊断标志物，在对弥漫性IDH突变型星形细胞瘤进行分类时需要考虑强大的预后意义。1-3 EGFR扩增状态与胶质瘤侵袭性行为相关4，现在被认为是胶质母细胞瘤的分子特征，但目前并不是IDH突变型星形细胞瘤的诊断考虑因素。1尽管不常见，但在大型已发表数据集中存在EGFR扩增的IDH突变型星形细胞瘤，但其相关性一直未得到充分强调，并且仍然知之甚少。5- 8为了更好地理解“EGFR扩增的IDH突变型星形细胞瘤”的生物学，我们介绍了两个机构遇到的四例罕见病例的临床和分子特征;基于细胞遗传学，DNA测序和DNA甲基化分析对其进行评估;并仔细检查该特定实体的已发表数据集，以进一步了解其诊断和预后意义。
IDH-mutant astrocytomas carry significantly better prognosis compared to their IDH-wildtype grade 4 (glioblastoma) counterpart. Several molecular diagnostic markers have emerged in the 2021 CNS WHO classification, with powerful prognostic implications to consider when classifying diffuse IDH-mutant astrocytomas. 1–3 EGFR amplification status, associated with aggressive glioma behavior 4 and now regarded as a molecular feature of glioblastoma, is not currently a diagnostic consideration in IDH-mutant astrocytomas. 1 Although uncommon, IDH-mutant astrocytomas with EGFR amplification exist in large published datasets but their relevance has been under-emphasized and remains poorly understood. 5–8In an effort to better understand the biology of “IDH-mutant astrocytoma with EGFR amplification,” we present the clinical and molecular profiles in four such rare cases encountered at two institutions; evaluate them based on cytogenetics, DNA sequencing, and DNA methylation profiling; and scrutinize published datasets for this specific entity to gain further insight into its diagnostic and prognostic implications.
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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：
6.4
作者：
Louis, David N.;Wesseling, Pieter;Ellison, David W.
通讯作者：
Ellison, David W.
影响因子：
5
作者：
Korshunov, A.;Casalini, B.;Sahm, F.
通讯作者：
Sahm, F.
影响因子：
12.7
作者：
Suwala AK;Stichel D;Schrimpf D;Kloor M;Wefers AK;Reinhardt A;Maas SLN;Kratz CP;Schweizer L;Hasselblatt M;Snuderl M;Abedalthagafi MSJ;Abdullaev Z;Monoranu CM;Bergmann M;Pekrun A;Freyschlag C;Aronica E;Kramm CM;Hinz F;Sievers P;Korshunov A;Kool M;Pfister SM;Sturm D;Jones DTW;Wick W;Unterberg A;Hartmann C;Dodgshun A;Tabori U;Wesseling P;Sahm F;von Deimling A;Reuss DE
通讯作者：
Reuss DE
影响因子：
64.5
作者：
Brennan CW;Verhaak RG;McKenna A;Campos B;Noushmehr H;Salama SR;Zheng S;Chakravarty D;Sanborn JZ;Berman SH;Beroukhim R;Bernard B;Wu CJ;Genovese G;Shmulevich I;Barnholtz-Sloan J;Zou L;Vegesna R;Shukla SA;Ciriello G;Yung WK;Zhang W;Sougnez C;Mikkelsen T;Aldape K;Bigner DD;Van Meir EG;Prados M;Sloan A;Black KL;Eschbacher J;Finocchiaro G;Friedman W;Andrews DW;Guha A;Iacocca M;O'Neill BP;Foltz G;Myers J;Weisenberger DJ;Penny R;Kucherlapati R;Perou CM;Hayes DN;Gibbs R;Marra M;Mills GB;Lander E;Spellman P;Wilson R;Sander C;Weinstein J;Meyerson M;Gabriel S;Laird PW;Haussler D;Getz G;Chin L;TCGA Research Network
通讯作者：
TCGA Research Network