Table 1 Summary of chromosomal abnormalities and sequencing variants identified in 20 known and newly proposed meningioma genes in four meningiomas families, four sporadic meningioma cases, and a meningioma replication cohort
From: Novel germline and somatic variants in familial and sporadic meningioma genes
Gene | Chromosome | Tumors with CA in gene | Loss | Gain | Germline replication variants | Somatic replication variants | Germline variants identified by WES | Meningiomas | Histology |
|---|---|---|---|---|---|---|---|---|---|
Variants in known meningioma genes | |||||||||
AKT1 | 14q32.33 | 23 | 16 | 7 | 0 | 6 | - | - | - |
CDKN2A | 9p21.3 | 20 | 14 | 6 | 1 | 0 | - | - | - |
KLF4 | 9q31.2 | 11 | 4 | 7 | 0 | 3 | - | - | - |
NF2 | 22q12.2 | 71 | 66 | 5 | 0 | 20 | - | - | - |
SMARCB1 | 22q11.23 | 69 | 64 | 5 | 0 | 1 | - | - | - |
SMARCE1 | 17q21.2 | 14 | 2 | 12 | 0 | 1 | - | - | - |
SMO | 7q32.1 | 19 | 3 | 16 | 0 | 3 | - | - | - |
SUFU | 10q24.32 | 22 | 18 | 4 | 0 | 1 | - | - | - |
TERT | 5p15.33 | 18 | 1 | 17 | 0 | 3 | - | - | - |
TP53 | 17p13.1 | 19 | 12 | 7 | 0 | 1 | - | - | - |
TRAF7 | 16p13.3 | 12 | 5 | 7 | 0 | 7 | - | - | - |
Variants in newly proposed meningioma genes | |||||||||
BMPR1A | 10q23.2 | 21 | 18 | 3 | 0 | 0 | c.A1255G:p.K419E | Multiple cranial | Transitional and meningothelial |
CSMD3† | 8q23.3 | 17 | 8 | 9 | 4 | 3 | c.2980_2986del: p.F994Sfs*10 | Multiple | - |
EXTL3 | 8p21.1 | 12 | 7 | 5 | 0 | 1 | c.1979G>A: p.R660Q | Multiple cranial | Meningothelial and fibroblastic |
FAT3 | 11q14.3 | 12 | 6 | 6 | 6 | 4 | c.G11546A:p.R3849Q | Multiple cranial | Meningothelial and fibroblastic |
FNDC3B | 3q26.31 | 7 | 4 | 3 | 0 | 0 | c.C224T:p.S75F | Multiple cranial | Transitional and meningothelial |
RAB44† | 6p21.2 | 12 | 3 | 9 | 2 | 2 | c.G2899C:p.E967Q | Recurrent | - |
RARA | 17q21.2 | 15 | 3 | 12 | 2 | 0 | c.C26T:p.P9L | Cranial and spinal | Meningothelial |
RECQL4† | 8q24.3 | 16 | 9 | 7 | 2 | 0 | c.C3227A:p.A1076D | Malignant recurrent | - |
TNRC6A | 16p12.1 | 11 | 4 | 7 | 2 | 1 | c.G31A:p.D11N | Multiple cranial | Meningothelial and fibroblastic |
