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Analysis of point mutations and copy number variation in Grade II and III meningioma.

Abstract：

:Meningiomas are among the most common tumors of the adult central nervous system (CNS). They are classified by the World Health Organization into three pathologic grades with increasing severity: grade I are benign with favorable treatment outcomes and low recurrence rates while grade III display malignant behavior and poor progression-free survival. Previous studies have shown that inactivation of NF-2 is the most common genetic event in high-grade meningioma; however, there is dearth of molecular data to distinguish grade II (AM-II) from the even more aggressive grade III (AM-III). As part of a routine diagnostic workup, 19 AM-II and 5 AM-III were submitted for targeted sequencing on a panel of twenty-four genes relevant to CNS tumors. The data generated during the course of clinical care was collected and re-analyzed with the aim of identifying molecular features to distinguish AM-II and AM-III. Our cases contained several well-characterized, potentially actionable mutations, but we did not find any novel, recurrent sequence variants. Copy number variations were common in both AM-II and AM-III; chr22q loss was the most prevalent followed in decreasing frequency by losses of chr1p, chr14q, and chr10. In particular, chr10 loss was noted in 4 of 5 AM-III cases but none of the AM-II cases. This suggests that chr10 loss may serve as a diagnostic and perhaps a prognostic marker to differentiate AM-II from AM-III. If confirmed in larger studies, our finding could further aid the classification of meningioma.

journal_name

Exp Mol Pathol

journal_title

Experimental and molecular pathology

authors

McNulty SN,Schwetye K,Goldstein M,Carter J,Schmidt RE,Ansstas G,Tsien CI,Kim AH,Dahiya S

doi

10.1016/j.yexmp.2018.10.007

subject

Has Abstract

pub_date

2018-12-01 00:00:00

pages

328-333

issue

3

eissn

0014-4800

issn

1096-0945

pii

S0014-4800(18)30243-0

journal_volume

105

pub_type

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