Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5

被引:52
作者
Abedalthagafi, Malak S. [1 ]
Merrill, Parker H. [1 ]
Bi, Wenya Linda [2 ]
Jones, Robert T. [1 ]
Listewnik, Marc L. [3 ]
Ramkissoon, Shakti H. [1 ]
Thorner, Aaron R. [4 ,5 ]
Dunn, Ian F. [2 ]
Beroukhim, Rameen [4 ,6 ,9 ]
Alexander, Brian M. [7 ]
Brastianos, Priscilla K. [4 ,6 ,8 ]
Francis, Joshua M. [4 ,6 ]
Folkerth, Rebecca D. [1 ]
Ligon, Keith L. [1 ,4 ]
Van Hummelen, Paul [4 ,5 ]
Ligon, Azra H. [3 ]
Santagata, Sandro [1 ,9 ]
机构
[1] Harvard Univ, Brigham & Womens Hosp, Sch Med, Dept Pathol,Div Neuropathol, Boston, MA 02115 USA
[2] Harvard Univ, Brigham & Womens Hosp, Sch Med, Dept Neurosurg, Boston, MA 02115 USA
[3] Harvard Univ, Brigham & Womens Hosp, Sch Med, Clin Cytogenet Lab,Ctr Adv Mol Diagnost,Dept Path, Boston, MA 02115 USA
[4] Dana Farber Canc Inst, Dept Med Oncol, Boston, MA 02115 USA
[5] Dana Farber Canc Inst, Ctr Canc Genome Discovery, Boston, MA 02115 USA
[6] Broad Inst MIT & Harvard, Cambridge, MA USA
[7] Harvard Univ, Brigham & Womens Hosp, Sch Med, Dept Radiat Oncol, Boston, MA 02115 USA
[8] Harvard Univ, Massachusetts Gen Hosp, Sch Med, Dept Neurooncol, Boston, MA USA
[9] Dana Farber Canc Inst, Dept Canc Biol, Boston, MA 02115 USA
关键词
meningioma; angiomatous; polysomy; aCGH; molecular diagnostics; Next Generation Sequencing; CIRCULAR BINARY SEGMENTATION; MUTATIONS; CANCER; HEMANGIOBLASTOMAS; INACTIVATION; ANEUPLOIDY; FRAMEWORK; VARIANTS; TRAF7; AKT1;
D O I
10.18632/oncotarget.2517
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
Meningiomas are a diverse group of tumors with a broad spectrum of histologic features. There are over 12 variants of meningioma, whose genetic features are just beginning to be described. Angiomatous meningioma is a World Health Organization (WHO) meningioma variant with a predominance of blood vessels. They are uncommon and confirming the histopathologic classification can be challenging. Given a lack of biomarkers that define the angiomatous subtype and limited understanding of the genetic changes underlying its tumorigenesis, we compared the genomic characteristics of angiomatous meningioma to more common meningioma subtypes. While typical grade I meningiomas demonstrate monosomy of chromosome 22 or lack copy number aberrations, 13 of 14 cases of angiomatous meningioma demonstrated a distinct copy number profile - polysomies of at least one chromosome, but often of many, especially in chromosomes 5, 13, and 20. WHO grade II atypical meningiomas with angiomatous features have both polysomies and genetic aberrations characteristic of other atypical meningiomas. Sequencing of over 560 cancer-relevant genes in 16 cases of angiomatous meningioma showed that these tumors lack common mutations found in other variants of meningioma. Our study demonstrates that angiomatous meningiomas have distinct genomic features that may be clinically useful for their diagnosis.
引用
收藏
页码:10596 / 10606
页数:11
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