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. 2007 Jan 12;8:16. doi: 10.1186/1471-2164-8-16

Table 1.

Genetic alterations in one hundred meningiomas.

Sample ID Subtype1 CH3 NF2 gene mutations DNA copy number profiles4
Position Mutation2 Assumed effect3 Chromosome 22 Chromosome 1 Loss of non-22 genes5
M26 A Ex 2 227_240del Lys76fs Monosomy Monosomy D1, S1A, S1B
M71 A Ex8 810+2T>C Abn. Spl. Monosomy 1p, 120.8 Mb TD D1, P2A, S1A, S1B
M38 A Ex6 573del; 575_581del Trp191fs Monosomy 1p 107.9 Mb TD P1B, P2A, S1A, S1B
M43 A Ex12 1185del Lys396fs Monosomy 1p 120.3 Mb TD, 4.4 Mb A
M46 A Ex8 810+2T>C Abn. Spl. NAD NAD
M33 A NAD 30.6 Mb TD [AC009516-AC002055] 1p, 90.2 Mb TD, 45.8 Mb ID
M9 A NAD NAD NAD
M20 A NAD NAD NAD
M13 F Ex 2 240+2T>C Abn. Spl. Monosomy 1p, 142.9 Mb TD P2A, S1A, S1B
M88 F Ex4 364-1G>A Abn. Spl. Monosomy 1p 84.1 Mb TD; 1q 4.6, 7.1 Mb IDs, 12.5 Mb TD P2A
M3 F Ex 2 240+2T>C Abn. Spl. Monosomy 1p 119.8 Mb TD
M14 F Ex3 249del His84fs Monosomy 1p 120.2 Mb TD
M15 F Ex8 683del Lys228fs Monosomy 1p 116.0 Mb TD
M39 F Ex8 810+1G>A Abn. Spl. Monosomy NS
M42 F Ex10 995del Lys332fs Monosomy NS
M70 F Ex6 599+1G>A Abn. Spl. Monosomy NS
M91 F Ex 2 154del Arg52fs Monosomy NS
M102 F Ex9 865A>T Lys289X Monosomy NS
M115 F Ex7 634C>T Gln212X NAD 1p 119.6 Mb TD
M646 F NAD 30.4 Mb TD [AC008079-AC002055], NF2 biallelic del [AC005529] 1p 98.8 Mb ID; 1q 24.2 Mb ID P1B, P2A
M66 F NAD Monosomy 1p 118.1 Mb TD P2A
M117 F NAD 0.55, 2.8, 4.5 Mb IDs [U07000-AP00034, AC005004-Z69907, AL022311-Z83851]; 5.9 Mb TD [Z93244-AC002055] 1p 116.8 Mb TD, 3.6 Mb A
M32 F NAD 5.3 Mb ID [AL022329-AL022336], 15.2 Mb TD [AL009049-AC002055] NS D1
M4 F NAD Monosomy NAD
M29 F NAD Monosomy NS
M41 F NAD Monosomy NS
M92 F NAD Monosomy NS
M114 F NAD 18.0 Mb ID [AP000525-Z68324] NS
M119 F NAD NAD NS
M10 M Ex13 1341-2A>G Abn. Spl. Monosomy 1p 120.3 Mb TD P2A
M23 M Ex3 241-2A>C Abn. Spl. Monosomy 1p 120.9 Mb TD P2A
M67 M Ex4 432C>A Tyr144X Monosomy 1p 120.8 Mb TD P2A
M98 M Ex14 1519_1520del Phe507fs Monosomy NAD D1, P2A, S1A, S1B
M57 M Ex 2 133_144 del Asp45fs Monosomy NS
M72 M Ex7 634C>T Gln212X Monosomy NS
M40 M NAD Monosomy 1p 164.9 Mb TD P1B, P2A
M76 M NAD Monosomy 1p 142.7 Mb TD P2A
M105 M NAD Monosomy 1p 116.3 Mb TD P1B, P2A
M348 M NAD 20.0 Mb TD [AC004542-AC002055] 1p 102.8 Mb ID
M44 M NAD Monosomy 1p 85.4 Mb TD
M101 M NAD 25.1 Mb ID [AP000525-AL035450], 7.9 Mb TD [AL049758-AC002055] Monosomy, 1p 2.1 Mb R
M30 M NAD Monosomy NAD D1, P2A
M112 M NAD NAD 1p 114.2 Mb TD
M2 M NAD NAD NAD
M5 M NAD NAD NAD
M77 M NAD NAD NAD
M82 M NAD NAD NAD
M45 M NAD NAD NS
M51 M NAD NAD NS
M54 M NAD NAD NS
M61 M NAD NAD NS
M63 M NAD NAD NS
M65 M NAD NAD NS
M69 M NAD NAD NS
M86 M NAD NAD NS
M95 M NAD NAD NS
M99 M NAD NAD NS
M107 M NAD NAD NS
M108 M NAD NAD NS
M111 M NAD NAD NS
M116 M NAD NAD NS
M120 M NAD NAD NS
M93 P Ex8 810G>T Glu270Asp Monosomy 1p 114.3 Mb ID P2A
M229 P Ex13, inter1 1390del; 28309611 C>A Ala464fs, unknown Monosomy NS
M62 P NAD Monosomy NS
M21 P NAD NAD NS
M60 T Ex14 1519_1528del Phe507fs Monosomy 1p 118.2 Mb TD P2A
M1 T Ex7 650del Tyr217X Monosomy 1p 65.0 Mb TD
M31 T Ex13 1325del Ala451fs Monosomy 1p 53.2, 36.3 Mb IDs
M58 T Ex 2 115-3G>C Abn. Spl. 30.1 Mb TD [AC007050-AC002055] 1p 120.2 Mb TD
M90 T Ex3 241-2A>G Abn. Spl. 20.1Mb ID [AP000525-AL079295], 13.4 Mb TD [AL049850-AC002055] 1p 83.3 Mb TD
M96 T Ex12 1175G>T Glu392X 2.0 Mb ID [AP000525-AC007666], 5.4 Mb A [AC006285-AC000102], 27.5 Mb TD [U07000-AC002055] 1p 43.3 Mb TD, 1q 69.9 Mb TD
M52 T Ex4 431_432insAA Tyr144X Monosomy NS P1B
M113 T Ex4 377del Leu127X Monosomy NAD D1, P1B, P2A, S1A, S1B
M18 T Ex12 1198C>T Gln400X Monosomy NS
M37 T Ex8 745_755del Arg249fs Monosomy NS
M48 T Ex 1 36_37del Leu14fs Monosomy NS
M75 T Ex8 750del Thr251fs Monosomy NS
M87 T Ex4 436G>A Val146Ile NAD NS
M56 T NAD Monosomy 1p 116.5 Mb TD P2A
M85 T NAD Monosomy 1p 108.2 Mb TD P2A
M109 T NAD 5.7 Mb A [AC006548-AC007957], 30.6 Mb TD [AC009516-AC002055] 1p 120.2 Mb TD
M27 T NAD 15.5Mb ID [AP000525-AC005005], 14.1 Mb TD [AL049749-AC002055] NS
M59 T NAD Monosomy NS
M68 T NAD Monosomy NS
M94 T NAD Monosomy NS
M97 T NAD Monosomy NS
M25 T NAD NAD 1p 98.7 Mb TD
M117 T NAD NAD 1p 36.1 Mb TD
M10410 T + NAD NAD NS
M8 T NAD NAD NS
M12 T NAD NAD NS
M17 T NAD NAD NS
M35 T NAD NAD NS
M55 T NAD NAD NS
M89 T NAD NAD NS
M103 T NAD NAD NS
M78 U Ex10 999+1G>T Abn. Spl. Monosomy 1p 3.8 Mb TD
M79 U NAD NAD 1p 39.1Mb ID, 1q 41.3Mb TD
M83 U NAD NAD NS

1 Tumors are grouped according to histopathological subtypes. Abbreviations: A, Anaplastic; F, Fibroblastic; M, Meningothelial; P, Psammomatous; T, Transitional and U, Unclassified.

2 Position of the mutations according to numbering of the cDNA sequence, nucleotide number one is the A in the ATG translation initiation codon [GenBank:AF369658]. Abbreviations: substitution, >; deletion, del; insertion, ins; No Aberration Detected, NAD. Donor splice site mutations indicated by the last nucleotide of the preceding exon, a plus sign and position in the intron (e.g. 240+2T>C). Acceptor splice site mutations denoted by the first nucleotide of the following exon, a minus sign and position in the intron (e.g. 241-2A>C).

3 Amino acid number one is the translation initiator Methionine. Abbreviations: translation termination codon, X; frame shift, fs; abnormal splicing, Abn. Spl.

4 Data from copy number imbalances on chromosome 1 were previously published [34]. Abbreviations: Terminal Deletion, TD; Interstitial Deletion, ID; Amplification/gain, A; Not Studied, NS; No Aberration Detected, NAD; Retained segment R. Genbank accession numbers in squared brackets.

5 Loss of non-chromosome 22 clones spanning the DAL1, D1; PTCH2A, P2A; PTCH1B, P1B; SUFU1A, S1A; and SUFU1B, S1B genes.

6 M64 displays a homozygous deletion of the NF2 gene.

7 M11 demonstrates multiple deletions not affecting the NF2 gene.

8 M34 displays a terminal deletion not affecting the NF2 locus.

9 M22 presents two mutations in the NF2 locus, in exon 13 and in the CNG inter1. The position of the inter1 mutation is according to numbering on chromosome 22 (UCSC Homo sapiens Genome Browser, assembly July 2003). Ten bases on each side of the mutation: agcaaagagaCaaattaccca.

10 Methylation of a single CpG site in the intron 1 of the NF2 gene in ~40% of DNA molecules.