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参考資料1０ 厚生労働科学研究費 がん対策推進総合研究事業研究班資料 (7 ページ)
出典
| 公開元URL | https://www.mhlw.go.jp/stf/newpage_23226.html |
| 出典情報 | 厚生科学審議会 科学技術部会全ゲノム解析等の推進に関する専門委員会（第7回 1／18）《厚生労働省》 |
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COL1A1−PDGFB
COL1A1−PDGFB
4
MUC16
MUC16
MUC19
MUC19
SS18−SSX1
SS18−SSX1
3
HLA−BHLA−B
MUC16
MUC19
SS18−SSX1
CSMD3
CSMD3
TP53
H3F3A
FAT4 FAT4
1
TTN
HLA−B
COL1A1−PDGFB
FLG FLG
MUC12
MUC16
FUS−CREB3L2
FUS−CREB3L2
MUC19
CACNA1C
SS18−SSX1
MUC17
MUC17
CSMD3
HELZ2HELZ2
MFS
UPS
ESOS
FBN3 FBN3
DDLPS
CSMD1
CSMD1
DNAH11
DNAH11
MPNST
SS
ASPS
MLS
DFSP
LGFMS
H3F3A
GCT
0
ATRX ATRX
FAT4
HLA−B
MUC12
FLG
CACNA1C
FUS−CREB3L2
CSMD3
MUC17
FAT4
FLG
ATRX
FUS−CREB3L2
CSMD1
MUC17
LOC100652833
LOC100652833
Structural variation
ATRX
DNAH11
LRP2 LRP2
CSMD1
FBN3
Gene M
DNAH11
MYH7MYH7
HELZ2
Gene N
FBN3
Translocation-related
HELZ2
Gene
O
LOC100652833
NF1 NF1
LOC100652833
Gene PLRP2
PKHD1L1
PKHD1L1
ASPLTFE3
BCORZC3H7B
COL1A1PDGFB
SYNE1
SYNE1
SS18SSX1
LRP2
EWSR1FLI1
NA
NA
COL1A1−PDGFB
CACNA1C
CACNA1C
14%
14%
13%
13%
8%
8%
8%
8%
8%
8%
7%
7%
6%
6%
NA
00
Gene QMYH7
MYH7
NF1
NF1 NF1
PKHD1L1
Gene
R
PKHD1L1
SYNE1
Gene SYNE1
S
Sarcoma type
NA
No. of samples
20
20
No. of samples
14%
14%
13%
13%
8%8%
5%
5%
8%8%
5%
5%
8%8%
4%
4%
7%7%
4%
4%
6%
14%
6%
4%
4%
13%
5%
5%
8%
5%
4%
4%
5%
8%
4%
4%
4%
8%
4%
4%
7%
4%
4%
4%
6%4%
4%
3%
3%
5%
4%
5%
4%
3%
3%
4%
4%
4%4%
3%
3%
4%
4%
4%3%
3%
3%
4%
3%3%
4%
3%
3%
3%3%
4%
3%
3%
3%
3%
3%3%
3%
3%
3%
3%3%
3%
3%
3%
3%
3%
3%
3%
3%
3%
3%
3%
3%
3%
3%
3%3%
3%
3%3%
3%
3%
3%
3%
3%
3%
3%3%
3%
FAB_classification
FAB_classification
3%3%
TTN
MUC12
MUC12
2
Altered in 109 (74.15%) of 147 samples.
TP53
H3F3AH3F3A
TMB
Log10(mutation count)
TTN TTN
20
0
No. of samples
No. of samples
TMB
TMB
TP53 TP53
0
NA
NA
5
0
Altered in 109 (74.15%) of 147 samples.
Mutational landscape
NA
Frequency of somatic mutations
0
SS18−SSX1
H3F3A
HLA−B
MUC12
CACNA1C
CSMD3
FAT4
FLG
FUS−CREB3L2
MUC17
612
612
ATRX
CSMD1
DNAH11
FBN3
HELZ2
LOC100652833
LRP2
MYH7
NF1
0 PKHD1L1
0
TP53
SYNE1
612
ALMS1
Gene A
ASPSCR1−TFE3
COL1A1-PDGFB CACNA1E
Gene B CCDC168
Gene C COL22A1
CSMD2
SS18-SSX10
DMD
H3F3ADSCAML1
FCGBP
Gene D
FRMPD4
Gene E
HYDIN
ITGAM
Gene F
MCF2L
Gene G
MGAM
MXRA5
Gene H
OBSCN
Gene I
PIK3CA
RELN
FUS-CREB3L2
RYR3
Gene J
SCN10A
SCN7A
ATRX
TENM4
Gene K
USH2A
Gene L
ZNF316
骨軟部腫瘍における組織横断的体細胞遺伝子変異解析
TMB
TMB
612612
0
20
No. of samples
NA
FAB_classification
FAB_classification
ASPS
DFSP
BCOR
SS
ES
Complex-karyotype
Missense_Mutation
Splice_Site
Missense_Mutation
Frame_Shift_Del
In_Frame_Ins
Nonsense_Mutation
Multi_Hit
Structural_Variant
FAB_classification
FAB_classification
Nonsense_Mutation
Missense_Mutation
Splice_Site
In_Frame_Ins
DDLPS
ESOS
Missense_Mutation
Missense_Mutation
Splice_Site
Splice_Site
In_Frame_Ins
In_Frame_Ins
Frame_Shift_Del
Frame_Shift_Del
LMS
MFS
MPNST
In_Frame_Ins
C>G
C>G
C>G
C>G
C>T
C>A
T>A T>A
T>A
T>A
T>C
T>C
T>C
T>C
T>A
T>G
C>A
C>A
C>A
C>G
T>G
T>G
T>C T>G
C>T
C>T
C>T
C>T
Nucleotide
alterations
ASPS
ASPS
Frame_Shift_Del
FAB_classification
Splice_Site
ASPS
Frame_Shift_Del
BCOR
CCS
Multi_Hit
FAB_classification
C>A
T>G
Translocation-related
FAB_classification
Complex−karyotype
others
Complex-karyotype
DFSP
SS
Complex−karyo
LGFMS
CDS
MLS
ASPS
Complex−karyotype
Complex−karyotype
Complex−karyotype
others
others
others
7
Fusion−type
NA
COL1A1−PDGFB
4
MUC16
MUC16
MUC19
MUC19
SS18−SSX1
SS18−SSX1
3
HLA−BHLA−B
MUC16
MUC19
SS18−SSX1
CSMD3
CSMD3
TP53
H3F3A
FAT4 FAT4
1
TTN
HLA−B
COL1A1−PDGFB
FLG FLG
MUC12
MUC16
FUS−CREB3L2
FUS−CREB3L2
MUC19
CACNA1C
SS18−SSX1
MUC17
MUC17
CSMD3
HELZ2HELZ2
MFS
UPS
ESOS
FBN3 FBN3
DDLPS
CSMD1
CSMD1
DNAH11
DNAH11
MPNST
SS
ASPS
MLS
DFSP
LGFMS
H3F3A
GCT
0
ATRX ATRX
FAT4
HLA−B
MUC12
FLG
CACNA1C
FUS−CREB3L2
CSMD3
MUC17
FAT4
FLG
ATRX
FUS−CREB3L2
CSMD1
MUC17
LOC100652833
LOC100652833
Structural variation
ATRX
DNAH11
LRP2 LRP2
CSMD1
FBN3
Gene M
DNAH11
MYH7MYH7
HELZ2
Gene N
FBN3
Translocation-related
HELZ2
Gene
O
LOC100652833
NF1 NF1
LOC100652833
Gene PLRP2
PKHD1L1
PKHD1L1
ASPLTFE3
BCORZC3H7B
COL1A1PDGFB
SYNE1
SYNE1
SS18SSX1
LRP2
EWSR1FLI1
NA
NA
COL1A1−PDGFB
CACNA1C
CACNA1C
14%
14%
13%
13%
8%
8%
8%
8%
8%
8%
7%
7%
6%
6%
NA
00
Gene QMYH7
MYH7
NF1
NF1 NF1
PKHD1L1
Gene
R
PKHD1L1
SYNE1
Gene SYNE1
S
Sarcoma type
NA
No. of samples
20
20
No. of samples
14%
14%
13%
13%
8%8%
5%
5%
8%8%
5%
5%
8%8%
4%
4%
7%7%
4%
4%
6%
14%
6%
4%
4%
13%
5%
5%
8%
5%
4%
4%
5%
8%
4%
4%
4%
8%
4%
4%
7%
4%
4%
4%
6%4%
4%
3%
3%
5%
4%
5%
4%
3%
3%
4%
4%
4%4%
3%
3%
4%
4%
4%3%
3%
3%
4%
3%3%
4%
3%
3%
3%3%
4%
3%
3%
3%
3%
3%3%
3%
3%
3%
3%3%
3%
3%
3%
3%
3%
3%
3%
3%
3%
3%
3%
3%
3%
3%
3%3%
3%
3%3%
3%
3%
3%
3%
3%
3%
3%3%
3%
FAB_classification
FAB_classification
3%3%
TTN
MUC12
MUC12
2
Altered in 109 (74.15%) of 147 samples.
TP53
H3F3AH3F3A
TMB
Log10(mutation count)
TTN TTN
20
0
No. of samples
No. of samples
TMB
TMB
TP53 TP53
0
NA
NA
5
0
Altered in 109 (74.15%) of 147 samples.
Mutational landscape
NA
Frequency of somatic mutations
0
SS18−SSX1
H3F3A
HLA−B
MUC12
CACNA1C
CSMD3
FAT4
FLG
FUS−CREB3L2
MUC17
612
612
ATRX
CSMD1
DNAH11
FBN3
HELZ2
LOC100652833
LRP2
MYH7
NF1
0 PKHD1L1
0
TP53
SYNE1
612
ALMS1
Gene A
ASPSCR1−TFE3
COL1A1-PDGFB CACNA1E
Gene B CCDC168
Gene C COL22A1
CSMD2
SS18-SSX10
DMD
H3F3ADSCAML1
FCGBP
Gene D
FRMPD4
Gene E
HYDIN
ITGAM
Gene F
MCF2L
Gene G
MGAM
MXRA5
Gene H
OBSCN
Gene I
PIK3CA
RELN
FUS-CREB3L2
RYR3
Gene J
SCN10A
SCN7A
ATRX
TENM4
Gene K
USH2A
Gene L
ZNF316
骨軟部腫瘍における組織横断的体細胞遺伝子変異解析
TMB
TMB
612612
0
20
No. of samples
NA
FAB_classification
FAB_classification
ASPS
DFSP
BCOR
SS
ES
Complex-karyotype
Missense_Mutation
Splice_Site
Missense_Mutation
Frame_Shift_Del
In_Frame_Ins
Nonsense_Mutation
Multi_Hit
Structural_Variant
FAB_classification
FAB_classification
Nonsense_Mutation
Missense_Mutation
Splice_Site
In_Frame_Ins
DDLPS
ESOS
Missense_Mutation
Missense_Mutation
Splice_Site
Splice_Site
In_Frame_Ins
In_Frame_Ins
Frame_Shift_Del
Frame_Shift_Del
LMS
MFS
MPNST
In_Frame_Ins
C>G
C>G
C>G
C>G
C>T
C>A
T>A T>A
T>A
T>A
T>C
T>C
T>C
T>C
T>A
T>G
C>A
C>A
C>A
C>G
T>G
T>G
T>C T>G
C>T
C>T
C>T
C>T
Nucleotide
alterations
ASPS
ASPS
Frame_Shift_Del
FAB_classification
Splice_Site
ASPS
Frame_Shift_Del
BCOR
CCS
Multi_Hit
FAB_classification
C>A
T>G
Translocation-related
FAB_classification
Complex−karyotype
others
Complex-karyotype
DFSP
SS
Complex−karyo
LGFMS
CDS
MLS
ASPS
Complex−karyotype
Complex−karyotype
Complex−karyotype
others
others
others
7
Fusion−type
NA