Thoracic low grade glial neoplasm with concurrent H3 K27M and PTPN11 mutations.
Thoracic low grade glial neoplasm with concurrent H3 K27M and PTPN11 mutations.
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DOI：
10.1186/s40478-022-01340-9
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发表时间：
2022-04-28
影响因子：
7.1
通讯作者：
Canoll, Peter
中科院分区：
文献类型：
--
作者：
Argenziano, Michael G.;Furnari, Julia L.;Miller, Michael L.;Sun, Yu;Banu, Matei A.;Neira, Justin A.;Snuderl, Matija;Bruce, Jeffrey N.;Welch, Mary;McCormick, Paul;Canoll, Peter
我们报告一位41岁男性的病例，他发展为恶化的中胸背痛，影像显示胸髓内有一边界清楚的肿瘤。进行了次全切除，组织病理学分析显示为细胞学平淡、增生性最小的胶质瘤。测序显示H3K27M和一个激活的PTPN11突变。连续成像显示肿瘤在三年内再生缓慢，这促使了第二次切除。复发的肿瘤表现为类似的低级别组织学，并含有与原发肿瘤相同的H3K27M和PTPN11突变。虽然分离的H3K27M在脊髓胶质瘤中的预后重要性是众所周知的，但这两个突变在脊柱低级别胶质瘤中的组合尚未见报道。重要的是，PTPN11是MAPK信号通路的组成部分。因此，越来越多的证据表明，与孤立的H3 K27M突变中线胶质瘤相比，伴有BRAF或FGFR1突变的低度恶性胶质瘤具有相对更有利的病程，本病例为激活MAPK信号通路其他组成部分的突变对预后的重要性提供了新的证据。此病例进一步强调了临床-放射-病理相关性的重要性，当结合进化的遗传数据综合诊断罕见的神经上皮性肿瘤。网上版载有补充材料，可在10.1186/s40478-022-01340-9查阅。
We present the case of a 41-year-old man who developed worsening mid-thoracic back pain and imaging revealed a well-circumscribed intramedullary tumor in the thoracic spinal cord. Subtotal resection was performed, and histopathological analysis showed a cytologically bland, minimally proliferative glial neoplasm. Sequencing revealed H3 K27M and an activating PTPN11 mutation. Serial imaging revealed slow tumor regrowth over a three year period which prompted a second resection. The recurrent tumor displayed a similar low grade-appearing histology and harbored the same H3 K27M and PTPN11 mutations as the primary. While the prognostic importance of isolated H3 K27M in spinal gliomas is well-known, the combination of these two mutations in spinal low grade glioma has not been previously reported. Importantly, PTPN11 is a component of the MAPK signaling pathway. Thus, as building evidence shows that low grade-appearing gliomas harboring H3 K27M mutations along with BRAF or FGFR1 mutations have a relatively more favorable course compared to isolated H3 K27M-mutant midline gliomas, the present case provides new evidence for the prognostic importance of activating mutations in other components of the MAPK signaling pathway. This case further highlights the importance of clinico-radio-pathologic correlation when incorporating evolving genetic data into the integrated diagnosis of rare neuroepithelial tumors. The online version contains supplementary material available at 10.1186/s40478-022-01340-9.
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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
Olig2在小儿星形细胞和室室肿瘤中差异表达。
影响因子：
3.9
作者：
Otero, Jose Javier;Rowitch, David;Vandenberg, Scott
通讯作者：
Vandenberg, Scott
DOI：
10.1126/science.aao4750
发表时间：
2018-04-20
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
Filbin MG;Tirosh I;Hovestadt V;Shaw ML;Escalante LE;Mathewson ND;Neftel C;Frank N;Pelton K;Hebert CM;Haberler C;Yizhak K;Gojo J;Egervari K;Mount C;van Galen P;Bonal DM;Nguyen QD;Beck A;Sinai C;Czech T;Dorfer C;Goumnerova L;Lavarino C;Carcaboso AM;Mora J;Mylvaganam R;Luo CC;Peyrl A;Popović M;Azizi A;Batchelor TT;Frosch MP;Martinez-Lage M;Kieran MW;Bandopadhayay P;Beroukhim R;Fritsch G;Getz G;Rozenblatt-Rosen O;Wucherpfennig KW;Louis DN;Monje M;Slavc I;Ligon KL;Golub TR;Regev A;Bernstein BE;Suvà ML
通讯作者：
Suvà ML
影响因子：
4.6
作者：
Mosaab, Amal;El-Ayadi, Moatasem;El-Naggar, Shahenda
通讯作者：
El-Naggar, Shahenda
影响因子：
0.9
作者：
Boonyawat, Boonchai;Charoenpitakchai, Mongkon;Suwanpakdee, Piradee
通讯作者：
Suwanpakdee, Piradee