A high-grade glioma with SOS1 hamplification

被引：1

作者：

Vidal, Barbara ^{[1
,6
]}

Bryke, Christine ^{[1
,6
]}

Hsu, Nancy ^{[1
,6
]}

Alterman, Ronnie ^{[2
,6
]}

Yeo, Alan T. ^{[4
,5
]}

Charest, Al ^{[3
,4
,6
]}

Varma, Hemant ^{[1
,6
]}

机构：

[1] Beth Israel Deaconess Med Ctr, Dept Pathol, 330 Brookline Ave, Boston, MA 02215 USA

[2] Beth Israel Deaconess Med Ctr, Dept Surg, 330 Brookline Ave, Boston, MA 02215 USA

[3] Beth Israel Deaconess Med Ctr, Dept Med, Boston, MA 02215 USA

[4] Beth Israel Deaconess Med Ctr, Canc Res Inst, Boston, MA 02215 USA

[5] Tufts Univ, Sch Med, Sackler Sch Grad Studies, Boston, MA 02111 USA

[6] Harvard Med Sch, Boston, MA 02115 USA

来源：

CLINICAL NEUROPATHOLOGY | 2020年 / 39卷 / 03期

关键词：

SOS1; glioma; glioneuronal tumor; TERT amplification; array CGH; GENE; MUTATION;

D O I：

10.5414/NP301182

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The molecular alterations underlying progression of low-grade glial/glioneuronal tumors remain to be elucidated. We present a case of a 56-year-old male with an enhancing left temporal lobe tumor. Histology revealed a high-grade glioma adjacent to a low-grade glioneuronal component with abundant Rosenthal fibers, focal eosinophilic granular bodies, and CD34-positive neurons. The tumor was negative for IDH1 (R132H), BRAF-V600E, and the KIAA1549-BRAF fusion. Comparative genomic hybridization detected a large amplification (> 15 copies) of the Son of Sevenless 1 (SOS1) gene, a component of the MAPK pathway. Although activating mutations in the MAPK pathway occur frequently in gliomas and glioneuronal tumors, SOS1 gene amplification has not been reported previously. This case indicates another potential mechanism for MAPK activation in glial tumors.

引用

页码：126 / 134

页数：9

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