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

作者：Abedalthagafi Malak S; Merrill Parker H; Bi Wenya Linda; Jones Robert T; Listewnik Marc L; Ramkissoon Shakti H; Thorner Aaron R; Dunn Ian F; Beroukhim Rameen; Alexander Brian M; Brastianos Priscilla K; Francis Joshua M; Folkerth Rebecca D; Ligon Keith L; Van Hummelen Paul; Ligon Azra H; Santagata Sandro^*

来源：Oncotarget, 2014, 5(21): 10596-10606.

DOI：10.18632/oncotarget.2517

• meningioma
• angiomatous
• polysomy
• aCGH
• molecular diagnostics
• Next Generation Sequencing

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.

• 出版日期2014-11-15