2019࠰10உ30ଐᅕৎ‫ܖٻ‬ᚘምᅹ‫ܖ‬૙ᏋἍὅἑὊ
ᚘምဃԡᅹ‫ܖ‬ỉؕᄽϫἢỶỼἳἙỵỽἽỶὅἧỻἰἘỵἁἋಒᛯ㛵す஦ᴗ㒊䝞䜲䜸䝯䝕䜱䜹䝹䜲䞁䝣䜷䝬䝔䜱䜽䝇㛤Ⓨ㒊㒊㛗 ㇂ᔱᡂᶞ1

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䝀䝜䝮䝤䝷䜴䝄
䝣䝸䞊䝋䝣䝖䜴䜵䜰䝎䜴䞁䝻䞊䝗
“GenomeJack”䛷᳨⣴2

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3

䠄Pathologists edited, Mitsubishi Space Software supervised clinical sequence system for personalized medicine䠅COPYRIGHT 2019, MITSUBISHI SPACE SOFTWARE CO., LTD. ALL RIGHTS RESERVEDɤᓛἋἬὊἋὉἏἧἚỸỺỴắኰʼ

4

COPYRIGHT 2019, MITSUBISHI SPACE SOFTWARE CO., LTD. ALL RIGHTS RESERVEDPleSSision౨௹ ඝ᪃
1962ᖺ
1992ᖺ
1999ᖺ
2000ᖺ

఍♫タ❧
䝞䜲䜸ศ㔝㐍ฟ䠄㎰Ỉ┬DNA䝞䞁䜽䠅䝞䜲䜸஦ᴗ㛵すᆅ༊䛻ᣑᙇ Paracel♫〇ရྲྀ䜚ᢅ䛔䝍䜹䝷䝞䜲䜸䝗䝷䝂䞁䝆䜵䝜䝭䜽䝇

2003ᖺ

MEDLINE䝅䝇䝔䝮 MedRodeo㓄ิDB BioINTEGRA๰⸆DB BioElephant

2010ᖺ

NGS䝀䝜䝮䝤䝷䜴䝄㛤Ⓨ
GenomeJack Free/〇ရ∧

2014ᖺ
ᖺ

ୡ⏺ึiPS⣽⬊䜢⏝䛔䛯⣽⬊἞⒪䛾⮫ᗋ◊✲䛻䛚䛔䛶ᙜ♫䜒㈉⊩䠄Mandai M, Watanabe A, Kurimoto Y, et al. N Engl J Med 2017;376:1038-46.䠅

2016ᖺึ䛾ᅜෆ᏶⤖ᆺ䛜䜣䜽䝸䝙䜹䝹䝅䞊䜿䞁䝇໭኱⑓㝔 䜽䝷䞊䜽᳨ᰝ㛤ጞ䠄すཎᗈྐ≉௵ᩍᤵ䠅2017ᖺ

6᭶ PleSSision ᳨ᰝ㛤ጞ䠄እὀᆺ䠅 ᪊໭ᾏ㐨䛜䜣䝉䞁䝍䞊11᭶ ៞᠕⩏ሿ኱Ꮫ᳨ᰝ㛤ጞ䠄すཎᗈྐᩍᤵ䠅2018ᖺ඲⑕౛䛜䜣䝀䝜䝮䝇䜽䝸䞊䝙䞁䜾PleSSision-Rapid䝥䝻䝆䜵䜽䝖㛤ጞ

2019ᖺ

PleSSision Exome(඲㑇ఏᏊゎᯒ)䝃䞊䝡䝇㛤ጞ

10᭶

1୓ே䛜䜣䜶䜻䝋䞊䝮◊✲㛤ጞ៞኱⑓㝔䚸䛜䜣䝀䝜䝮་⒪䛷᭱㐺䛺⸆㑅ᢥ 160㑇ఏᏊ䜢ゎᯒ
2017/11/4௜᪥ᮏ⤒῭᪂⪺ ኤห៞᠕⑓㝔䛻䛶䛜䜣䝀䝜䝮እ᮶䛜㛤タ䛥䜜䚸PleSSision᳨ᰝ䛜ጞ䜎䛳䛯䛣䛸䛜ሗ㐨䛥䜜䛯䚹5

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support your discovery
MSS Bioinformatics

䛜䜣䝀䝜䝮ኚ␗䛸䛿䠛6

COPYRIGHT 2019, MITSUBISHI SPACE SOFTWARE CO., LTD. ALL RIGHTS RESERVED‫ٶ‬െ᨞ႆầỮᛟỆؕỀẪἛἻỶἢὊᢡˡ‫ီ٭܇‬኱⭠⒴䛾Ⓨ⑕䝯䜹䝙䝈䝮䛾౛䠖䠐䠌䡚䠑䠌ᖺ௨ୖ䛾య⣽⬊䝀䝜䝮ኚ␗䛾⵳✚ṇᖖ䛺኱⭠⢓⭷ぢ䛯┠䛿ṇᖖ

“first hit”

“second hit”䛜䜣ᢚไ㑇ఏᏊ䛾ᶵ⬟䜢ᦆ䛺䛖ኚ␗䛜⏕䛨䜛䜶䝢䝀䝜䝮ኚ໬
䛻䜘䜚ṧ䛳䛯ṇᖖ䜰䝸䝹䛜୙άᛶ໬䛥䜜䜛

Ⰻᛶ⭘⒆
䠄䝫䝸䞊䝥䠅

ᝏᛶ⭘⒆

⢓⭷
⢓⭷ୗ⤌⧊
➽ᒙ

䝗䝷䜲䝞䞊
㑇ఏᏊኚ␗

APC

APC
Ȳ-catenin䛜䜣㑇ఏᏊ䜢
άᛶ໬䛥䛫䜛
ኚ␗䛜⏕䛨䜛

䛥䜙䛻䛜䜣ᢚไ㑇ఏᏊ䛜Ḟኻ䛩䜛䛥䜙䛻㑇ఏᏊኚ␗䛜⵳✚ᰁⰍయ䛾ᵓ㐀␗ᖖ䛜ቑຍ䛩䜛

K-RAS

P53
LOH at SMAD2/4

Telomerase
Many genes᭱ึ䛾య⣽⬊⣔ิ㑇ఏᏊኚ␗䠄䜎䜜䛻㑇ఏⓗ䛻⥅ᢎ䛥䜜䜛䠅య⣽⬊⣔ิኚ␗䛾ቑຍ

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7˳ኬᏘἄἠἲᣐЗỉᚐᛠ
䛜䜣⣽⬊

ᡭ⾡᳨య

䝸䝣䜯䝺䞁䝇䝀䝜䝮㓄ิ
͐*$7*&*$7&&*$7&*$77*&*&7͐_____________________
7*&*$7&&*$7&&&$77*&*&7$7&&*$7&*$77*&*&7
7&&*$7&*$77*&*&7*$7&&$77*&*&7௚䛾⣽⬊⏤᮶䛾DNA㓄ิṇᖖᆺGїC䛻ኚ␗䛧䛶䛔䜛㒊ศ䛜䚸䛜䜣⣽⬊⏤᮶
ȝP

⑓⌮᳨య

8

య⣽⬊䝀䝜䝮DNA㓄ิCOPYRIGHT 2019, MITSUBISHI SPACE SOFTWARE CO., LTD. ALL RIGHTS RESERVEDầỮἄἠἲỆ˴ầឪẮẾềỦỉẦᾎ• 䝀䝜䝮୙Ᏻᐃᛶ
– ᰁⰍయᵓ㐀ኚ␗ї䝁䝢䞊ᩘኚ␗– 䜶䝢䝀䝜䝮ኚ໬– ᰁⰍయᵓ㐀䛾๻ⓗ䛺ኚ໬ Chromathripsis, Kataegis• 䝀䝜䝮ಟ᚟ᶵᵓ䛾႙ኻ– 䝭䝇䝬䝑䝏ಟ᚟ᶵᵓ䛾႙ኻ
• MSI(Microsatellite Instability)• Hypermutated, Ultramutated• HRD(Homologous Recombination Deficiency)• ቑṪᶵᵓ䛾ஹ㐍– Oncogene䛾άᛶ໬• ⣽⬊Ṛᶵ⬟䚸ቑṪไᚚᶵᵓ䛾႙ኻ– Tumor Suppressor Gene䛾୙άᛶ໬9

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ദࠝኬᏘỉ௨ᑥ˳౨௹ίKaryotypeὸ10

COPYRIGHT 2019, MITSUBISHI SPACE SOFTWARE CO., LTD. ALL RIGHTS RESERVEDHELAኬᏘίΨỊ‫ܷ܇‬ᫀầỮὸỉKaryotype

11

COPYRIGHT 2019, MITSUBISHI SPACE SOFTWARE CO., LTD. ALL RIGHTS RESERVEDμἄἠἲᚐௌỂᙸẺầỮኬᏘỉἅἦὊૠ‫ီ٭‬ᖹᆒ῝䛥 x57 䛜䜣⣽⬊䛾ྵ᭷⋡47%

⦪㍈䠗CNV region, ᳨ฟ䛥䜜䛯CNV㡿ᇦ, LRR䠗Log R Ratio, VAF;Variant Allele Frequency
⦪㍈䠗ᰁⰍయ䠍䡚䠎䠎/X/Y, 䝀䝜䝮䝫䝆䝅䝵䞁12

COPYRIGHT 2019, MITSUBISHI SPACE SOFTWARE CO., LTD. ALL RIGHTS RESERVEDChRCCỆềᚇยẰủẺ Kataegis
Rain Fall Plot䠖ᶓ㍈䛿䝀䝜䝮䝫䝆䝅䝵䞁䚸⦪㍈䛿Somatic Mutation䛾㛫㝸ᖹᆒMutation Rate䜢♧䛩ᖏCabel F. D, et. al, Cancer Cell, 2014

ᰁⰍయ Translocation䜢క䛖㒊఩䛻C>T/G>Aኚ␗䛾䜽䝷䝇䝍䞊䛜ぢ䜙䜜䜛
13

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Chromothripsis ί౨˳ṟὸᐇ㦂་Ꮫ Vol.32 No.12䠄ቑห䠅2014
14

COPYRIGHT 2019, MITSUBISHI SPACE SOFTWARE CO., LTD. ALL RIGHTS RESERVEDἢỶỼỶὅἧỻἰἘỵἉἵὅỉྸᚐ• ⏕య䛾ᜏᖖᛶ

Ⓨ⏕

෌⏕䞉ಟ᚟

⥔ᣢ

䜰䝫䝖䞊䝅䝇

ಟ᚟䞉䝀䝜䝮䞉䝍䞁䝟䜽㉁䞉䝟䝇䜴䜵䜲䛾ື䛝

ቑṪ

䡺䢙䡷䡬

䜶䝷䞊
」〇

ච␿ᢚไ

ච␿䝅䝇䝔䝮COPYRIGHT 2019, MITSUBISHI SPACE SOFTWARE CO., LTD. ALL RIGHTS RESERVED

15

˴૏ầỮỆễỦỉẦᾎ ίἢỶỼỶὅἧỻἰἘỵἉἵὅỉྸᚐὸ• タィᅗ䠄䝀䝜䝮䠅䛾ᚋኳⓗ䛺ኚ␗䛻䜘䜚䚸ᭀ㉮䜎䛯䛿ᶵ⬟୙඲ᭀ㉮Ⓨ⏕

Loss Of
Function ?
䜰䝫䝖䞊䝅䝇

୙඲

෌⏕䞉ಟ᚟

⥔ᣢ

ಟ᚟

䡺䢙䡷䡬

୙඲

ቑṪ
ᭀ㉮

PD-L1
㐣๫Ⓨ⌧?

䜶䝷䞊
」〇

Gain Of
Function ?
16ᭀ㉮
Neo-antigen
䠄Mutation
Burden䠅ච␿䝅䝇䝔䝮ච␿ᢚไ

COPYRIGHT 2019, MITSUBISHI SPACE SOFTWARE CO., LTD. ALL RIGHTS RESERVEDKRASᢡˡ‫܇‬ỉGain Of Functionỉ̊㢮ఝ䠄㻤㻡䠂䠅

ྠ୍䝅䞊䜽䜶䞁䝇㻳㻝㻞 㻳㻝㻟 㻸㻝㻥㻭㻡㻥 㻽㻢㻝

㻭㻝㻠㻢

㻷㻝㻝㻣

ከᵝ

㻾㻝㻢㻠 㻾㻝㻣㻟㻔㻷㻙㻾㼍㼟 㻺㻿㻼㻕㻷㻾㻭㻿㼔㼥㼜㼑㼞㼢㼍㼞㼕㼍㼎㼘㼑㼞㼑㼓㼕㼛㼚

㻝㻿㼣㼕㼠㼏㼔㻌㻝㻦㻌㻱㼒㼒㼑㼏㼠㼛㼞㻛㻳㻭㻼㻝㻤㻢㼍㼍㻯㼍㼍㼤 㼎㼛㼤

㻿㼣㼕㼠㼏㼔㻌㻞㻦㻌㻳㻱㻲㻌㼕㼚㼠㼑㼞㼍㼏㼠㼕㼛㼚㼑㼒㼒㼑㼏㼠㼛㼞㻌㼐㼛㼙㼍㼕㼚㻔㻞㻢㻙㻠㻡㻕㻳㼀㻼㻌㼎㼕㼚㼐㼕㼚㼓

䛭䛾௚GTP䝞䜲䞁䝕䜱䞁䜾䝃䜲䝖䛾ኚ␗䛻䛿⤖ྜ䛧䛯GDP䛾ゎ㞳㏿ᗘ䜢㏿䜑䛶GTP⤖ྜ≧ែ䛾Ꮡᅾ๭ྜ䜢㧗䜑䜛ຠᯝ䜢䜒䛴㻼㼕㻺㼑㼡㼞㼛㼒㼕㼎㼞㼛㼙㼕㼚

㻼㻝㻟㻷
㻳㻭㻼

G12,G13,Q61ኚ␗䛿䚸䝇䜲䝑䝏ᶵᵓ䛾◚ቯ䛻䜘䜛άᛶ໬ᆺ䜈䛾ᅛᐃ

Ras-GDP
୙άᛶᆺ
㻳㻰㻼

㻼㻰㻷
Ras-GTP
㻭㼗㼠

άᛶ໬ᆺ

㻳㼀㻼

άᛶя୙άᛶ
䝇䜲䝑䝏ᶵᵓ

㻾㼍㼒

㻳㻱㻲
㻳㼀㻼
㻿㼔㼏

SOS

㻿㻴㻼㻙㻞

㻳㼞㼎㻞

㻳㻰㻼

Nucleus䠄᰾䠅㻹㻱㻷䛆⣽⬊ቑṪ䛇
㻱㻾㻷

᰾ෆᅉᏊ

17

COPYRIGHT 2019, MITSUBISHI SPACE SOFTWARE CO., LTD. ALL RIGHTS RESERVEDầỮ৮Сᢡˡ‫ ܇‬Single hit or Two Hits ?
ဵ䠗㑇ఏᛶ⭘⒆䛾䜋䛸䜣䛹䛾㑇ఏᏊ䛿TSG

ὀព䠗DNA-Seqἲ䛻䛚䛔䛶䛿䝯䝏䝹໬䛿᳨ฟ䛷䛝䛺䛔䛯䜑䚸䛩䜉䛶䛾䠎䝁䝢䞊ኻά䜢᳨ฟ䛩䜛䛣䛸䛿ᅔ㞴䛷䛒䜛䚹18

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support your discovery
MSS Bioinformatics

䛜䜣䝀䝜䝮ゎᯒ䛾䝞䜲䜸䜲䞁䝣䜷䝬䝔䜱䜽䝇

䝕䞊䝍ゎᯒ

19

䜰䝜䝔䞊䝅䝵䞁
䜻䝳䝺䞊䝅䝵䞁἞⒪᳨⣴COPYRIGHT 2019, MITSUBISHI SPACE SOFTWARE CO., LTD. ALL RIGHTS RESERVED

ầỮἄἠἲᚐௌ౨௹ίἩἾἉἊἹὅ౨௹ὸỉҾྸ
ṇᖖ䝀䝜䝮
䠄ᮎᲈ⾑䠅

ṇᖖ䝀䝜䝮
㻰㻺㻭㓄ิ
ẚ㍑䞉⤫ィฎ⌮䛜䜣䝀䝜䝮䠄䛜䜣⤌⧊⣽⬊䠅㻳㼑㼞㼙㼘㼕㼚㼑ኚ␗ඛኳⓗ䛺ྵ䜎䜜䜛ኚ␗䛷ᐙ᪘ᛶ䛜䜣䛾ཎᅉ䛸䛺䜛㻿㼛㼙㼍㼠㼕㼏ኚ␗ᚋኳⓗ䛻Ⓨ⏕䛩䜛ኚ␗䛷䚸䛜䜣䛾⤌ᡂ䛻኱䛝䛟㛵䜟䜛

䛜䜣䝀䝜䝮
㻰㻺㻭㓄ิ

䝕䞊䝍䝧䞊䝇䛻䜘䜛䝷䞁䜻䞁䜾᪤Ꮡ䛾◊✲䛷䝗䝷䜲䝞䞊㑇ఏᏊ䛸ุᐃ䛥䜜䛶䛔䜛䛛䠛⑓ⓗኚ␗䛾≉ᐃ䛜䜣⣽⬊⤌⧊䛾ᙧᡂ䛸ゎᯒ⤖ᯝ䛜୍⮴䛧䛶䛔䜛䛛䠛
᪥ᮏே≉᭷䛾ኚ␗䛷䛿䛺䛔䛛䠛ᶵ⬟ኚ໬䛾ண

ኚ␗䛻䜘䛳䛶ᶵ⬟䛻ᙳ㡪䛜䛹䛾⛬ᗘ䛒䛳䛯䛛䠛䝗䝷䜲䝞䞊㑇ఏᏊኚ␗䛾ೃ⿵䛆デ᩿䛇䞉㻭㼏㼠㼕㼛㼚㼍㼎㼘㼑㻌ኚ␗㑅ู䞉㻰㼞㼡㼓㼓㼍㼎㼘㼑 ኚ␗㑅ู䛆἞⒪䛇䞉᥎ዡ἞⒪䠄ศᏊᶆⓗ⸆䠅䚸἞㦂
20

COPYRIGHT 2019, MITSUBISHI SPACE SOFTWARE CO., LTD. ALL RIGHTS RESERVEDầỮἄἠἲ౨௹ᾉPleSSision౨௹ỉὁὊἁἧἿὊ
䛆䛜䜣䡵䢚䢅䢍䡰䡳䡹䢆䢛䡬䢀䢆䢛䢄䢕䛇
䞉Web䡲䢙䢈䡣䢖䢙䡹䛷᥎ዡ἞⒪Ỵᐃ䞉㛵㐃ศ㔝䛾䡰䡳䡹䢆䢛䡬䢀䛻䜘䜚ᵓᡂእ᮶䞉᥇⾑䞉䛜䜣⤌⧊⑓⌮デ᩿
FFPE䞉ᮎᲈ⾑⮫ᗋ⤒⦋ 䢆䢚䡬䡽䡨䢕䡹䢓䡮䢀䢚Ⓩ㘓

PleSSision䢄䡫䢀䢘䡬䡴ཧຍ་ᖌ䛿㜀ぴྍ⬟㐣ཤ⑕౛ཧ↷

䡱䡬䡼䢚䡬⟶⌮ web䠄ゎᯒ䡱䡬䡼䢚䡬䢀䢓䡫䡳䢙䡴䢚䠅Internet VPN䠄䢘䢙䡼䡮䢍䢆䢛䡹䢘䡬䢀䢚䛷䡭䡴䡺䡹䠅㉳ືCase Knowledge web䠄ኚ␗䡿䢚䡬䡼䢉䢚䡬䡹䠅ඹ᭷䝣䜷䝹䝎
䠄䝺䝫䞊䝖୍ᘧ䠅᳨ᰝ䝉䞁䝍䞊
(⾨⏕᳨ᰝᡤ)ゎᯒ䝺䝫䞊䝖

ゎᯒ䝟䜲䝥䝷䜲䞁䠄⮬ືฎ⌮䠅

㛢㙐⣔
VPN⥙

DNA

䡳䡩䢖䡬䡸䡪䢙䡸䡬䢀䡲䢙䢈䡣䢖䢙䡹䡸䡬䢀䛆♫ෆ䡳䡩䢖䡬䡸䡪䢙䛇♫ෆ⤫ྜDB䝅䞊䜿䞁䝇䝉䞁䝍䞊

Gene/Variants/Disease/Drug/Clinical Trialsኚ␗䡼䢚䢎䡬䡸䢚ண
SNPeffdbNSFP䠄14✀㢮䛾ணCNV⿵ṇ䠅Black list䞉ရ㉁䚸䡶䢙䡼䢌䡽䡦䡫䡴䞉Tumor Contentホ౯䞉䢀䢚䢓䡮䢆䢚䡬ኚ␗㑅ู
PleSSision Score௜ຍ

OG/TSG DBೃ⿵⸆๣䠄3Ꮫ఍䡲䢚䡮䡼䢚䢙䡹䠅䛆♫ෆ䡸䡹䡿䢍䞉♫ෆ▱㆑䡿䢚䡬䡼䢉䢚䡬䡹䠄䡴䢗䡬䡹䢚䢀䢚䢄䡫䢀䢘䡬䡴䠅䛇
COPYRIGHT 2019, MITSUBISHI SPACE SOFTWARE CO., LTD. ALL RIGHTS RESERVED

21ầỮἄἠἲἣ἟Ἵ౨௹ỉἙὊἑᚐௌἣỶἩἻỶὅ䝕䞊䝍ཷಙ䛜䜣㑇ఏᏊゎᯒ䝺䝫䞊䝖

䝸䞊䝗QC
䝬䝑䝢䞁䜾
䜶䝷䞊㝖ཤ
ኚ␗䝁䞊䝹

䝀䝜䝮ゎᯒ䝟䜲䝥䝷䜲䞁
GenomeJack Analysis

Normal/Tumorẚ㍑᳨ᐃ
䝗䝷䜲䝞ኚ␗᳨⣴䜾䝷䝣䞉䝺䝫䞊䝖⏕ᡂ䝺䝫䞊䝖ရ㉁䝏䜵䝑䜽
䝕䞊䝍㏦ಙ

22

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ἰἕἦὅἂ὾ỴἻỶἳὅἚ䝸䝣䜯䝺䞁䝇䝀䝜䝮㓄ิ
͐*$7*&*$7&&*$7&*$77*&*&7͐_____________________
7*&*$7&&*$7&&&$77*&*&7$7&&*$7&*$77*&*&7ゎᯒᑐ㇟䛾⤌⧊䛛䜙ᚓ䜙䜜䛯DNA㓄ิ
7&&*$7&*$77*&*&7*$7&&$77*&*&7GїCኚ␗ᅗ䠍 䝬䝑䝢䞁䜾䠋䜰䝷䜲䝯䞁䝖23

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ἄἠἲໜ‫(ီ٭‬SNV)• 䝸䝣䜯䝺䞁䝇䝀䝜䝮䜈䛾䝸䞊䝗䝬䝑䝢䞁䜾䛻䜘䜚ᚓ䜛䝸䝣䜯䝺䞁䝇
䝀䝜䝮㓄ิ

䛜䜣
䝀䝜䝮㓄ิ

䞉㑇ఏᏊᶵ⬟䛾ஹ㐍䞉㑇ఏᏊ䛾ኻά
Loss Of Functionኚ␗䝇䝖䝑䝥ኚ␗䠄䝘䞁䝉䞁䝇ኚ␗䠅䝣䝺䞊䝮䝅䝣䝖

‘A’䛜’G’䛻ኚ໬䛧䛶䛔䜛
24

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Somatic Mutatioỉ౨Ј• 䠄౛䠅䝣䜱䝑䝅䝱䞊䛾ṇ☜ᛶ᳨ᐃ䛻䜘䜚P್䜢⟬ฟ䝸䝣䜯䝺䞁䝇
䝀䝜䝮㓄ิ

䜸䝸䝆䝘䝹
䝀䝜䝮㓄ิ

‘A’䛜’G’䛻ኚ໬䛧䛶䛔䜛

A䠖14
G䠖11
䝣䜱䝑䝅䝱䞊᳨ᐃ䠄䜽䝻䝇㞟ィ⾲䠅

iPS⣽⬊
䝀䝜䝮㓄ิ

25

A䠖4
G䠖15

p=0.03᭷ពỈ‽ p<0.05䛸䛩䜛䛸䚸᭷ពᕪ᭷COPYRIGHT 2019, MITSUBISHI SPACE SOFTWARE CO., LTD. ALL RIGHTS RESERVEDᚐௌἣỶἩἻỶὅẆ἖ὊἽỉ̊

26

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Whole Genome Sequence䛻䜘䜛CNVゎᯒ䝸䞊䝗䝬䝑䝢䞁䜾䛾ᒁᡤⓗ䛺ቑῶ䜢᳨▱䛧䛶”B”䛾䝁䝢䞊ᩘ䜢᳨ฟ䛩䜛

A
B
C

A
C

deletion

A
B
C

A
B
C

Duplication

One copy of “B”

A
B
C

A
B
B
C

Three copies of “B”
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27

CNV Mosaic Loss , Mosaic Gain䝬䜲䜽䝻䜰䝺䜲䛾ሙྜ

gain

gain
100%
0%

Can A. et al. Nat Rev Gen 12, 363-376 (May 2011)28

COPYRIGHT 2019, MITSUBISHI SPACE SOFTWARE CO., LTD. ALL RIGHTS RESERVEDCNV᳨ฟ᪉ἲ
䝸䞊䝗䝬䝑䝢䞁䜾⤖ᯝྛbinẖ䛾
Log2(germline/somatic)
䝸䞊䝗ẚ䜢1䝗䝑䝖䛻䛧䛶䝥䝻䝑䝖䛩䜛䚹

䝀䝜䝮䝃䜲䝈ẖ䛾䝡䞁(bin)䛻
䝀䝜䝮ධ䜜䛶䚸䝸䞊䝗ᩘ䜢䜹䜴䞁䝖䜰䝑䝥ධ䜜䛶

duplication
Germline䞉䞉䞉
neutralSomatic

deletion䞉䞉䞉䝀䝜䝮䝫䝆䝅䝵䞁

1kbp
䝀䝜䝮䝫䝆䝅䝵䞁29

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CNV䝁䞊䝹 䜰䝹䝂䝸䝈䝮䠄䠍䠅Log2್䛾ᕪศ䛻䜘䜚䝀䜲䞁ኚ໬Ⅼ䠄䜶䝑䝆䠅䜢ồ䜑䜛⡆᫆ἲồ䜑䛯䛔䝷䜲䞁

Log2( somatic/germline) 䛾䝥䝻䝑䝖ኚ໬㔞᳨ฟ䠄window size 10䝫䜲䞁䝖䠅

CNV䜶䝑䝆᳨ฟ䠄z-score >= 4.0䛾䜶䝑䝆ᢳฟ䠅䜶䝑䝆㛫䠄䝸䞊䝆䝵䞁䠅䛾䝀䜲䞁䜢ồ䜑䜛
30

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Binary Segmentation 䜰䝹䝂䝸䝈䝮䐠䐡䐟

Log2ẚ䛜䛂ୖ䛜䛳䛶ୗ䛜䜛䛃䜎䛯䛿䛂ୗ䛜䛳䛶ୖ䛜䜛䛃
2Ⅼ䜢᥈䛧䛶CNV䝸䞊䝆䝵䞁䜢ồ䜑䜛䐟ĺ䐠䚸䐠ĺ䐡䛾䝀䜲䞁ኚ໬䛜᭷ព䛻ኚື䛧䛶䛔䜛䜒䛾䜢ᢳฟ䛩䜛䚹ඛ㗦໬䛆ᢳฟ᪉ἲ䛇
䞉⥲ᙜ䛯䜚䛷ୖ఩䠑䠂䜢ᢳฟ䛩䜛䞉኱ὠ䛾䜰䝹䝂䝸䝈䝮➼䛷㜈್䜢ồ䜑䛶ศ๭䛩䜛䠄⏬ീ䛾஧್໬䛷䜘䛟⏝䛔䜙䜜䜛䜰䝹䝂䝸䝈䝮䠅

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31

Whole Genome Sequencing 䛻䜘䜛
12␒䝖䝸䝋䝭䞊䛾CNV᳨ฟ౛䠄඲ᰁⰍయ⾲♧䠅䝃䞁䝥䝹

Origin : Normal
CNV : Somatic Cells

Karyotype: 47,XY,+12[20]Log2R

Allele Freq
CAN region኱ὠ䛾䜰䝹䝂䝸䝈䝮䛻䜘䛳䛶᳨ฟ32

COPYRIGHT 2019, MITSUBISHI SPACE SOFTWARE CO., LTD. ALL RIGHTS RESERVEDFFPE‫ࣖݣ‬ἅἦὊૠᙀദỴἽἆἼἌἲ
䝃䞁䝥䝹䝥䞊䝹
ᩘ༑䡚100䝃䞁䝥䝹௨ୖ䛾depthศᕸDNA᩿∦໬䛜⃭䛧䛟ᚑ᮶䛿
CNVィ 䛜㞴䛧䛛䛳䛯FFPE
䝃䞁䝥䝹䛾ゎᯒ䛜ྍ⬟䛻䛺䛳䛯䜀䜙䛴䛝䛜ከ䛔䝥䝻䞊䝤䜢㝖ཤ

FFPE䝜䜲䝈ᡂศ䜢ᢳฟ䛜䜣⣽⬊ィ ್䠄ᮍ⿵ṇ䠅⿵ṇᚋண ್
㑇ఏᏊẖ䛾CN್⿵ṇ

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33

NGSἣ἟ἽᚐௌỆấẬỦFFPEἇὅἩἽỉCNAᚐௌ̊
LOH

LOH

LOH

LOH

LOH

䝁䝢䞊ᩘ

SNP䛾
䜰䝸䝹
㢖ᗘ

34

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HRD(Homologous Recombination Deficiency)

35

COPYRIGHT 2019, MITSUBISHI SPACE SOFTWARE CO., LTD. ALL RIGHTS RESERVEDgBRCA2 TruncateMutation+gATM VUSHRDỉႆၐửွỪủỦ̊ PleSSision
HRD䝇䝁䜰=10.15

36

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Tumor content ਖ਼‫ܭ‬䞉Germlineኚ␗䛾䜲䞁䝞䝷䞁䝇䞉Somaticኚ␗䛾VAF

ண

್79%

Depth

⑓⌮་䛾ุᐃ䠖䠔䠌䠂

0%

100%
Allele Frequency

0%

100%
Tumor Content

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37ἨἻἕἁἼἋἚᾉ౨ЈỴἼἽ᫁ࡇầɟ‫ܭ‬ỂẝỦ䛜䜣⣽⬊ྵ᭷⋡䛻䜘䜙䛪୍ᐃ䛾䜰䝸䝹㢖ᗘ䜢♧䛩ኚ␗䜢䜹䝍䝻䜾໬䛧䛶䚸䝣䜱䝹䝍䞊䛸䛧䛶ά⏝䛩䜛䚹䠄ᙜヱ䝫䝆䝅䝵䞁䛾ሙྜ䚸஧㡯᳨ᐃ䛻䛶䜶䝷䞊ุᐃ䛩䜛䠅ṇᖖ䜶䝷䞊᳨ฟ౛

BRAF V600E

BRCA2 K2188R

䜰䝸䝹㢖ᗘҸ䛜䜣⣽⬊ྵ᭷⋡㾂2䜰䝸䝹㢖ᗘ䛿䛜䜣⣽⬊ྵ᭷⋡䛻䜘䜙䛪୍ᐃᶓ㍈䠖䛜䜣⣽⬊ྵ᭷⋡䚸⦪㍈䠖䜰䝸䝹㢖ᗘ38

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ṇᖖ

ṇᖖ

㽢

㽢

㽢

㽢

㽢

㽢

㽢

㽢

㽢

㽢

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39

support your discovery
MSS Bioinformatics

PleSSision᳨ᰝ䛻䜘䜛䝗䝷䜲䝞䞊㑇ఏᏊኚ␗䛾ゎ㔘䠄Pathologists edited, Mitsubishi Space Software supervised clinical sequence system forpersonalized medicine䠅

䝕䞊䝍ゎᯒ

40

䜰䝜䝔䞊䝅䝵䞁
䜻䝳䝺䞊䝅䝵䞁἞⒪᳨⣴COPYRIGHT 2019, MITSUBISHI SPACE SOFTWARE CO., LTD. ALL RIGHTS RESERVEDPleSSision౨௹ỉἋἬἕἁ• Amplicon-Seqἲ䛻䜘䜛䝟䝛䝹䝅䞊䜿䞁䝇䠇⊂⮬䛾ゎᯒ䝟䜲䝥䝷䜲䞁
኱ศ㢮

ᇶᮏ௙ᵝ

ᑠศ㢮

௙ᵝ

㑇ఏᏊᩘ

160㑇ఏᏊ

䝍䞊䝀䝑䝖䝃䜲䝈

744,835 bp

Somatic Call᪉ἲNormal/Tumor䝨䜰ゎᯒCNVゎᯒ

160୰147㑇ఏᏊ

⼥ྜ㑇ఏᏊ

䛺䛧

MMR㑇ఏᏊኚ␗

5㑇ఏᏊ

TMBィ

Mbᙜ䛯䜚䛾ኚ␗ᩘ

MSIィ

ᑐᛂ

HRD㑇ఏᏊኚ␗

8㑇ఏᏊ

TMB㛵㐃

HRD㛵㐃

䠄䢈䢛䢗䡬䢈䢚㑇ఏᏊᩘ䠅

CNBィ䝗䝷䜲䝞䞊㑇ఏᏊ㑇ఏᛶ⭘⒆

ᑐᛂ䠄133䠅COSMIC Census(tier1)152㑇ఏᏊCOSMIC Census(tier2)2㑇ఏᏊ

ACMG IF gene21㑇ఏᏊ

ACMG IF gene(⭘⒆㛵㐃)

21㑇ఏᏊ

䛭䛾௚

䛜䜣⣽⬊ྵ᭷⋡ணྍ⬟

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41ỺỿἋἣὊἚἣ἟ἽỆᐱỦὁὊἁἧἿὊ
᳨య㓄㏦

䛆㐠㏦ᒇ䛇

NG

⑓⌮⏬ീసᡂ䠋Ⓩ㘓

䝬䜽䝻䝎䜲䝉䜽䝅䝵䞁䛆⾨⏕᳨ᰝᡤ䛇

DNAᢳฟ

QC䠄཰㔞/QC-score/Amplifiable䠅䝃䞁䝥䝹䝅䞊䝖సᡂ䠄⮫ᗋ᝟ሗධຊ䠅䝃䞁䝥䝹䝅䞊䝖సᡂ䠄⑓⌮᝟ሗධຊ䠅᩿∦໬/䝟䝛䝹

䛆䝅䞊䜿䞁䝇䝉䞁䝍䞊䛇䝷䜲䝤䝷䝸స〇NG

䝃䞁䝥䝹䝅䞊䝖సᡂ䠄ṧ䛥䜜䛯ᶆ‽἞⒪䠅

䝅䞊䜿䞁䝅䞁䜾(MiSeq)䝕䞊䝍ゎᯒ䠋䝺䝫䞊䝖⏕ᡂ䜻䝳䝺䞊䝅䝵䞁

42䛆౫㢗ඖ⑓㝔䛇

෌ุᐃ䛆୰᰾ᣐⅬ⑓㝔䛇෌ゎᯒ

䛆MSS䠋䜲䞁䝣䜷䝬䝔䜱䜽䝇䛇䛆⑓⌮እὀ఍♫䛇䜶䜻䝇䝟䞊䝖䝟䝛䝹ච␿ᰁⰍ

COPYRIGHT 2019, MITSUBISHI SPACE SOFTWARE CO., LTD. ALL RIGHTS RESERVEDỴỸἚἩἕἚἾἯὊἚỉನ঺‫׋‬ṞὺṟὺṠ䐟ゎᯒሗ࿌᭩

䐠䜻䝳䝺䞊䝅䝵䞁䝅䞊䝖䐡䜹䞁䝣䜯䝺䞁䝇䝅䞊䝖䛾㞮ᙧ᳨ᰝ䛻㛵䛩䜛䛩䜉䛶䛾᝟ሗ䛜グ㍕䛥䜜䛶䛔䜛䛯䛰䛧䚸᳨య୙Ⰻ䛻㉳ᅉ䛩䜛䜶䝷䞊䛿䛭䛾䜎䜎䝺䝫䞊䝖䛥䜜䛶䛔䜛

䝇䝁䜰䠄PLS:PleSSision Score)䛻ᇶ䛵䛝䝗䝷䜲䝞䞊ೃ⿵䛸VUS䛾䜏グ㍕䛥䜜䜛䚹Benign䛚䜘䜃᳨య୙Ⰻ䛻㉳ᅉ䛩䜛䜶䝷䞊䛿㝖ཤ䛥䜜䜛

⮫ᗋ⤒㐣䜢㏣ຍ䛧䛶䚸䜹䞁䝣䜯䝺䞁䝇䛻ᚲせ䛺᝟ሗ䜢䜎䛸䜑䛯䝅䞊䝖䚹䝀䝜䝮䛻㛵䛧䛶䛿䚸䝗䝷䜲䝞䞊ೃ⿵䛾䜏グ㍕䠄Actionable䛸Druggable䠅䝇䝁䜰䠄▱㆑䝕䞊䝍䝧䞊䝇ཧ↷䠅䝗䝷䜲䝞䞊ೃ⿵䚸ಟṇ䛥䜜䛯TMB
ྵ᭷⋡䛷⿵ṇ䛥䜜䛯CN್䚸etcೃ⿵⸆๣䝸䝇䝖
ᅜෆ἞㦂䝸䝇䝖
䛣䛾㒊ศ䛻㛵䛧䛶䛿䜶䜻䝟䝛᫬䛻་ᖌ䛜グධ䜻䝳䝺䞊䝅䝵䞁䝅䞊䝖䛾ෆᐜ䜢䛣䛣䛻จ⦰
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43

PleSSision౨௹ỂჷụࢽỦʙ᪮
Her2, EGFR…

TKI

ཷᐜయ㑇ఏᏊ䛾ቑᖜ
AKT,PIK3CA,TP53…

ཷᐜయ㑇ఏᏊ
䛾Ꮡᅾ☜ㄆ䛆䝗䝷䜲䝞䞊ኚ␗䛾ྠᐃ䛇
Oncogeneάᛶ໬Suppressor gene䝎䝤䝹䝠䝑䝖
Fusion geneቑṪ䝅䜾䝘䝹
䠄ศᏊᶆⓗ⸆䠅
CDK4㑇ఏᏊ䛾ቑᖜ

ADC
Antibody Drug Conjugation
An

ẅ⣽⬊ᛶ
ᢠ䛜䜣๣

⣽⬊࿘ᮇ
CDK4/6 inh.

Hypermutated㽢
Neoantigen䛾⏕ᡂ㽢ච␿
ICB, ච␿⒪ἲ

PD-1,CTLA-4

PD-L1㐣๫Ⓨ⌧
44

MLH1,MSH2,MSH6…

㽢䝭䝇䝬䝑䝏ಟ᚟

㽢㽢㽢

BRCA1/2,PALB2…

HRD㑇ఏᏊ䛾䝎䝤䝹䝠䝑䝖

ྜᡂ⮴Ṛ
PARP inh.

HRD䛾Ⓨ⏕

䝥䝷䝏䝘〇๣
䝥
MMR㑇ఏᏊ䛾䝎䝤䝹䝠䝑䝖COPYRIGHT 2019, MITSUBISHI SPACE SOFTWARE CO., LTD. ALL RIGHTS RESERVED౨ЈẰủẺ‫ီ٭‬ầἛἻỶἢὊͅᙀẦỄạẦᾎ• Mutation• CIViC– e.g., ERBB2 G309E• Oncogenic• OncoKB– Yes/No• Effect– Gain of function/Loss of function

•
•
•
•

– https://civic.genome.wustl.edu/– DLྍ⬟䚸CC䝷䜲䝉䞁䝇

Cancer type
Drug
Evidence Level
Citation– http://oncokb.org/– DLྍ⬟䚸CC䝷䜲䝉䞁䝇䠄㠀Ⴀ฼䠅• JAX-CKB– https://ckb.jax.org/– DL୙ྍ䚸CC䝷䜲䝉䞁䝇䠄Ⴀ฼᭷ൾ䝷䜲䝉䞁䝇䠅• CANCER GENOME INTERPRETER– https://www.cancergenomeinterpreter.org/– DLྍ⬟䚸CC䝷䜲䝉䞁䝇– PMID㑇ఏᛶ⑌ᝈ䛻䛴䛔䛶䛿䚸ClinVar, HGMD, DisGeNET➼䜒ཧ⪃䛻䛺䜛䚹
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45ἅὅἦἷὊἑỆợỦ‫ီ٭‬ἒἳὊἊʖย(dbNSFP)• 䝕䞊䝍䝧䞊䝇䛻↓䛔VUS䛾ホ౯䜢ᨭ᥼䛩䜛
BRCA2 p.G2748D ClinVar Pathogenicኚ␗䝎䝯䞊䝆ண 䝋䝣䝖䜴䜵䜰⤖ᯝ䛾㞟ྜ䜢䝅䜾䝘䝹⾲♧dbNSFP Signature䜰䝸䝹㢖ᗘ䛜ప䛔䜎䛯䛿↓Ⓩ㘓
䛛䛴༙ᩘ௨ୖ䛾ᡭἲ䛷䝎䝯䞊䝆᭷䛸ண

BRCA2 p.N991D ClinVar Benign

Common SNP䜎䛯䛿䜋䛸䜣䛹䛾ᡭἲ䛷䝎䝯䞊䝆↓䛧䛸ண
dbNSFP 䛿䚸https://sites.google.com/site/jpopgen/dbNSFP

46

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dbNSFP Signature converting ruledbNSFP signature was converted from dbNSFP 3.4c.
benignlikely damaging

0
0
0
0
0
0
0
0
0
0
0
0
0
0

0.5
0.5
0.5
0.5
0.5
0.5
0.5
0.5
0.5
0.5
0.5
0.5
0.5
0.5

damaging

Converted Color
MetaLR_rankscore
MetaSVM_rankscore
phyloP20way_mammalian_rankscore
phyloP100way_vertebrate_rankscore
integrated_fitCons_score_rankscore
GenoCanyon_score_rankscore
Eigen-PC-raw_rankscore
GERP++_RS_rankscore
SIFT_converted_rankscore
PROVEAN_converted_rankscore
fathmm-MKL_coding_rankscore
FATHMM_converted_rankscore
MutationAssessor_rankscore
MutationTaster_converted_rankscore

1
1
1
1
1
1
1
1
1
1
1
1
1
1

Excepted mutation(dbNSFP supports only nonsynonymous mutation)

CITATION:
1. Liu X, Jian X, and Boerwinkle E. 2011. dbNSFP: a lightweight database of human non-synonymous SNPs and their functional predictions. Human Mutation. 32:894-899.
2. Liu X, Wu C, Li C and Boerwinkle E. 2016. dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Non-synonymous and Splice Site SNVs. Human
Mutation. 37:235-241.
3. Dong C, Wei P, Jian X, Gibbs R, Boerwinkle E, Wang K* and Liu X*. (2015) Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in wholeexome sequencing studies. Human Molecular Genetics 24(8):2125-2137. *corresponding authors

47

COPYRIGHT 2019, MITSUBISHI SPACE SOFTWARE CO., LTD. ALL RIGHTS RESERVEDClinVar Pathogenic‫ီ٭‬ỉ౨Ј̊ĸdbNSFPホ౯䜒䛂㉥䛃䛜ከ䛔

48

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support your discovery
MSS Bioinformatics

ኚ␗䛾䝇䝁䜰䝸䞁䜾
PleSSision Score䛚䜘䜃䜶䜻䝇䝟䞊䝖䝟䝛䝹䜰䝜䝔䞊䝅䝵䞁
䜻䝳䝺䞊䝅䝵䞁

䝕䞊䝍ゎᯒ

἞⒪᳨⣴

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49

ỺỿἋἣὊἚἣ἟ἽỆᐱỦἑỶἲἻỶὅ
䜾䝹䞊䝥

᪋タ

䜾䝹䞊䝥䠍 ⑓㝔
⾨⏕᳨ᰝᡤ

᭶ ⅆ
䕦Ⓨ㏦

Ỉ

➨୍㐌
ᮌ 㔠

ᅵ

᪥

᭶

ⅆ

Ỉ

➨஧㐌
ᮌ 㔠

ᅵ

᪥

᭶

ⅆ

Ỉ

➨୕㐌
ᮌ 㔠

ᅵ

᪥

᭶

ⅆ

Ỉ

➨ᅄ㐌
ᮌ 㔠

ᅵ

᪥

䝃䞁䝥䝹䝅䞊䝖

䕦᳨య╔䚼᪥
䛆㻰㻺㻭ᢳฟ䛇

䝅䞊䜿䞁䝇
䝉䞁䝍䞊

䕦㻰㻺㻭ධ╔䚼᪥䛆㻽㻯䢓䡮䢈䢚䢓䢔ㄪ〇䡸䡬䡵䢙䡸䢙䡴䢚䛇䕦䝅䞊䜿䞁䝇䝕䞊䝍㏦ಙ㻹㻿㻿䕦ཷಙ䊻䝕䞊䝍ゎᯒ䠄㻹㻿㻿䚼᪥䠅䕦䜻䝳䝺䞊䝅䝵䞁
䕦㛤ദ᱌ෆ䕦䜶䜻䝇䝟䞊䝖䝟䝛䝹䠄㻝㻣᫬䡚䠅䕦䜶䜻䝇䝟䞊䝖䝟䝛䝹䠄16᫬䡚䠅䜾䝹䞊䝥䠎 ⑓㝔
⾨⏕᳨ᰝᡤ

䕦Ⓨ㏦

䝃䞁䝥䝹䝅䞊䝖

䕦᳨య╔䚼᪥
䛆㻰㻺㻭ᢳฟ䛇

䝅䞊䜿䞁䝇
䝉䞁䝍䞊

䕦㻰㻺㻭ධ╔䚼᪥䛆㻽㻯䢓䡮䢈䢚䢓䢔ㄪ〇䡸䡬䡵䢙䡸䢙䡴䢚䛇䕦䝅䞊䜿䞁䝇䝕䞊䝍㏦ಙ㻹㻿㻿䕦ཷಙ䊻䝕䞊䝍ゎᯒ䠄㻹㻿㻿䚼᪥䠅䕦䜻䝳䝺䞊䝅䝵䞁
䕦㛤ദ᱌ෆ䕦䜶䜻䝇䝟䞊䝖䝟䝛䝹䠄㻝㻣᫬䡚䠅䕦䜶䜻䝇䝟䞊䝖䝟䝛䝹䠄16᫬䡚䠅

50

COPYRIGHT 2019, MITSUBISHI SPACE SOFTWARE CO., LTD. ALL RIGHTS RESERVEDἛἻỶἢὊ‫ီ٭‬ỉᚸ̖ίPleSSision Scoreὸ䝗䝷䜲䝞䞊䛸䛧䛶᥇⏝䛷䛝䛺䛔἞⒪⸆䜢᥎ዡ䛷䛝䜛䝗䝷䜲䝞䞊௚䛻㑅ᢥ⫥䛜↓䛔ሙྜ἞⒪⸆䜢᥎ዡ䛷䛝䜛䝗䝷䜲䝞䞊㠀ᖖ䛻ᙅ䛔
Tolerant

ᙅ䛔
Weak

ᙉ䛔
Strong㠀ᖖ䛻ᙉ䛔Very Strong

1

2

3

Ӎ4

䠇

デ⒪䜺䜲䝎䞁䝇1.0
䜶䝡䝕䞁䝇䝺䝧䝹䛆⾲ 䝗䝷䜲䝞䞊ኚ␗䛾≉ᚩ䛇
㡯┠
ᶵ⬟

䛜䜣㑇ఏᏊ
㻻㻳
ቑṪ䜢ಁ㐍䠄䜰䜽䝉䝹䠅䛜䜣䛷䛾␗ᖖኚ␗䛾⤖ᯝᑐ❧㑇ఏᏊ䛾ኚ␗ᚲせ䛺ኚ␗ᩘ
⣽⬊䛜䜣໬䛻

άᛶ໬
ᶵ⬟⋓ᚓ
∦ഃ
䠍ᅇ
ඃᛶ

ኚ␗䛾ศᏊᶵᵓ

Ⅼ✺↛ኚ␗䚸
㑇ఏᏊቑᖜ㑇ఏᏊ෌ᵓᡂ
䠄㼙㼕㻾㻺㻭䠅

51䛜䜣ᢚไ㑇ఏᏊ
㼀㻿㻳ቑṪ䜢ᢚไ䠄䝤䝺䞊䜻䠅䚸ᜏᖖᛶ⥔ᣢ䠄䝯䞁䝔䝘䞁䝇䠅
୙ά໬
ᶵ⬟႙ኻ
୧ഃ
䠎ᅇ
ຎᛶ
䝭䝇 䝉䞁䝇 ኚ␗䚸䝣䝺䞊䝮䝅䝣䝖ኚ␗䚸䝇 䝥䝷䜲䝅䞁䜾ኚ␗
㑇ఏᏊḞኻ
ᰁⰍయḞᦆ
䠄㑇ఏᏊୖὶኚ␗䠅䠄ᰁⰍయ୙ศ㞳䠅䠄㑇ఏᏊ஺᥮䠅䠄య⣽⬊⤌䜏᥮䛘䠅䠄䝥䝻䝰䞊䝍䞊䝯䝏䝹໬䠅䠄㼙㼕㻾㻺㻭䛻䜘䜛ᢚไ䠅

Tumor Content䛾⑓⌮䛸䛾ᩚྜᛶ☜ㄆ䝁䞁䝍䝭䝛䞊䝅䝵䞁䛾䝏䜵䝑䜽䠇ĺ 䝘䝸䝑䝆䝧䞊䝇䠄CIViC,COSMIC,etc)䠇ண 䝒䞊䝹ĺ CN್䠇䜰䝸䝹㢖ᗘ䠇SNV VAF䛾䜲䞁䝞䝷䞁䝇䠇
TMB(Tumor Mutation Burden)ホ౯䝒䞊䝹
MSI(Microsatellite Instability)ホ౯䝒䞊䝹᳨ฟኚ␗䜻䝳䝺䞊䝅䝵䞁䠄䝞䜲䜸䜲䞁䝣䜷䝬䝔䜱䝅䝱䞁䠅

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β၃ἓỹἕἁἯỶὅἚ᧹ܹдầ‫ڌ‬јẴỦ᧤͌ỉᎋả૾
15 mut/Mb

Mark Y. et al. NEJM 377;25 (Dec 2017)52

COPYRIGHT 2019, MITSUBISHI SPACE SOFTWARE CO., LTD. ALL RIGHTS RESERVEDᢡˡ‫܇‬ȑȍȫ౨௹ƴؕƮƘƕǜᚮၲǬǤȀȳǹᲢ
ƴؕƮ
ƮƘƕ
Ƙƕǜ
ƕǜᚮ
ᚮၲǬ
ၲ
Ტ
༿Უ

࠰
࠰
உ
உ
ଐᲢᇹ
ᇹ
༿Უ
඙ၲјௐ
#

ǨȓȇȳǹȬșȫЎ᫏ǨȓȇȳǹȬșȫƴؕƮƘ‫̊ࣖݣ‬ǳȳȑȋǪȳᚮૺƷኽௐǋƾǇƑ১ᛐƞǕƨ඙ၲᕤƷ̅ဇǛᎋॾ࢘ᛆƕǜᆔƴƓƍƯǳȳȑȋǪȳᚮૺᕤƱƠƯᕤʙ১ᛐƞǕƨᢡˡ‫ࠝီ܇‬࢘ᛆƕǜᆔƴƓƍƯǳȳȑȋǪȳᚮૺᕤƱƠƯ(&#ư১ᛐƞǕƨᢡˡ‫ࠝီ܇‬$࢘ᛆƕǜᏽƴƓƍƯȐǤǪȞȸǫȸƴǑǔधᎍᢠ৸ǛᘍƏЭӼƖᐮ࠿ᚾ᬴ǋƠƘƸȡǿᚐௌȇȸǿƴǑǓᐮ࠿ႎஊဇࣱƕࢽǒǕƯƍǔᢡˡ‫ࠝီ܇‬җЎƳᅹ‫ܖ‬ႎఌਗƕƋǓŴ඙᬴ȷέᡶҔၲȷᢘࣖ‫̅ٳ‬ဇሁƷᚸ̖ၲ᫱ǍधᎍဎЈၲ᫱ሁƷ̬ᨖ‫́ٳ‬ဇၲ᫱ᝲСࡇƷМဇǛᎋॾƢǔ

#࢘ᛆƕǜᆔƴƓƍƯŴЭӼƖᐮ࠿ᚾ᬴ƷǵȖǰȫȸȗᚐௌƴǑǓᐮ࠿ᚾ᬴ஊဇࣱǛᅆƢኽௐƕࢽǒǕƯƍǔᢡˡ‫ࠝီ܇‬ᅹ‫ܖ‬ႎఌਗƕƋǓŴ඙᬴ȷέᡶҔၲȷᢘࣖ‫̅ٳ‬ဇሁƷᚸ̖ၲ᫱ǍधᎍဎЈၲ᫱ሁƷ̬ᨖ‫́ٳ‬ဇၲ᫱ᝲСࡇƷМဇǛᎋॾƢǔ$ီƳǔƕǜᆔƴƓƍƯᕤʙ১ᛐƞǕƯƍǔŴǋƠƘƸᐮ࠿ႎஊဇ
ࣱǛᅆƢኽௐƕࢽǒǕƯƍǔᢡˡ‫ࠝီ܇‬ᅹ‫ܖ‬ႎఌਗƕƋǓŴ඙᬴ȷέᡶҔၲȷᢘࣖ‫̅ٳ‬ဇሁƷᚸ̖ၲ᫱ǍधᎍဎЈၲ᫱ሁƷ̬ᨖ‫́ٳ‬ဇၲ᫱ᝲСࡇƷМဇǛᎋॾƢǔ#ᅹ‫ܖ‬ႎჷᙸƴؕƮƘၐ̊‫إ‬ԓሁƴǑǓᐮ࠿ႎஊဇࣱƱƷ᧙ᡲƕ‫إ‬ԓƞǕƯƍǔᢡˡ‫ࠝီ܇‬ȒȈǁƷ৲ɨƷ‫إ‬ԓƕƋǔƜƱǛ៊ǇƑŴधᎍƷ඙᬴ሁƷཞඞǛ៊ǇƑƯŴǨǭǹȑȸȈȑȍȫưƷᜭᛯǛኺƯኽௐᡉҲŵᅹ‫ܖ‬ႎఌਗƸҗЎưƸƳƍƕŴ඙᬴ȷέᡶҔၲሁƷᎋॾǛƠƯǋǑƍ$+PXKVTQӏƼKPXKXQưƷᕤщ‫ܖ‬ႎᚸ̖ƴǑǓ඙ၲјௐƱƷ᧙ᡲƕ‫إ‬ԓƞǕƯƍǔᢡˡ‫ࠝီ܇‬ɟ‫ܭ‬Ʒᅹ‫ܖ‬ႎఌਗƕƋǔƕŴȒȈǁƷ৲ɨƕƳƍƜƱƔǒŴ
ҾЩኽௐǛᡉҲƠƳƍƕŴᡈƍ‫ݩ‬ஹǨȓȇȳǹȬșȫƕɥƕǔƜƱƕᙸᡂǇǕǔƕǜƴ᧙ɨƢǔƜƱƕჷǒǕƯƍǔᢡˡ‫ࠝီ܇‬ྵ଺ໜư඙ၲᢠ৸ƴ᧙Ƣǔᅹ‫ܖ‬ႎఌਗƸƳƍƕ‫ݩ‬ஹƷƨǊƴऴ‫إ‬ƷᔛᆢǛᘍƏ

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53ᵮᶊᶃᵱᵱᶇᶑᶇᶍᶌ ᵱᶁᶍᶐᶃểᵮᶊᶃᵱᵱᶇᶑᶇᶍᶌ ᵡᶐᶇᶒᶃᶐᶇᵿỉἰἚἼἕἁἋỂ඙ၲਖ਼‫ڜ‬ἾἫἽൿ‫ܭ‬
Target Strength(PleSSision Score)䠄䠍䛴䛾᳨ᰝ䛷᳨ฟ䛥䜜䛯」ᩘ䛾䝗䝷䜲䝞䞊ೃ⿵䛾䛹䜜䜢㑅䜆䛛䠛䠅἞⒪䜶䝡䝕䞁䝇䝺䝧䝹ĺ䛜䜣デ⒪䜺䜲䝎䞁䝇
䠄1.0∧䠅
2017ᖺ10᭶11᪥

Tolerant

Weak

StrongVery Strong

䠍

䠎

䠏

Ӎ䠐

ᙜヱ἞⒪䜢
᥎ዡ

ᙜヱ἞⒪䜢
ᙉ䛟᥎ዡ

1A
1B
2A
2B
3A

௚䛻㑅ᢥ⫥䛜↓䛔ሙྜ䛻᥎ዡ┤᥋἞⒪⸆䛻䛿⤖䜃䛴䛛䛺䛔䛜䚸ணᚋ䝬䞊䜹䞊䛺䛹䛻ά⏝䛷䛝䜛㡿ᇦ

3B
4
἞⒪⸆䛿᥎ዡ䛧䛺䛔54

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ỺỿἋἣὊἚἣ἟ἽỆ࣏ᙲễᐮ࠿ऴ‫إ‬• 䜻䝳䝺䞊䝅䝵䞁䛚䜘䜃䜶䜻䝇䝟䞊䝖䝟䝛䝹᫬䛻ཧ↷䛩䜉䛝᝟ሗ– 㐣ཤ䛾ዌຠ౛䠄䛯䛸䛘䜀䝥䝷䝏䝘ឤཷᛶ䛒䜚䠅– ᪤▱䛾㑇ఏᏊ᳨ᰝ⤖ᯝ– 䛭䛾௚䚸௨ୗ䛾౛䜢ཧ↷ᖺ㱋䠖䠐䠎ṓ ᛶู䠖ዪᛶ⤂௓ඖ་⒪ᶵ㛵䠖ᑽᓮ኱Ꮫ⑓㝔 ங⭢እ⛉ ሯཱྀඛ⏕᳨ᰝ⏦㎸་⒪ᶵ㛵䠖ᑽᓮ኱Ꮫ⑓㝔⮫ᗋデ᩿ྡ䠖ங⒴⑓⌮デ᩿ྡ䠖Ductal carcinoma 䝇䝔䞊䝆䠖4᪤▱䛾㑇ఏᏊ␗ᖖ䠖ER:- PR:- HER2:- BRCA1/2:㝜ᛶ⌧⑓ኚ䠖⫢⮚
ECOG PS: 0᳨య䠖201x+2ᖺ12᭶ ⫢㌿⛣⏕᳨䛜䜣⣽⬊ྵ᭷⋡䠖80%䠄⑓⌮䠅䛆⮫ᗋ⤒㐣䛇
201Xᖺ3᭶ ೺ᗣデ᩿䛷ᣦ᦬
201Xᖺ7᭶ NAC䠄䕿䕿䕿䠅᪋⾜䚸ุᐃ䛿PR
201X+1ᖺ12᭶ ங⒴ᡭ⾡ 㤶ᯢᅬ኱Ꮫ⑓㝔䛻䛶
201X+1ᖺ12᭶ Adj 䝊䝻䞊䝎༙ᖺ
201X+2ᖺ12᭶ ⫢㌿⛣䜢ᣦ᦬䠄⏕᳨᪋⾜䠅ĺ37[%HYணᐃᮍ᪋⾜䛾ಖ㝤ᢎㄆෆ἞⒪䠖
AC, EC, GEM, S-1, VNB, CBDCA, 䜶䝸䝤䝸䞁, Capecitabine䛆ᐙ᪘Ṕ䛇ẕ:ங⒴䚸ུẕ(ẕ᪉):ங⒴䚸ུẕ(ẕ᪉):༸ᕢ⒴䛆ႚ↮Ṕ䛇䛒䜚 BI=2000
䛆᪤ Ṕ䠄ᝏᛶ⭘⒆䠅䛇䛺䛧䛆Germline᝟ሗ㛤♧ᕼᮃ䛇᭷䜚

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55

ỺἥἙὅἋᚐ᣷ɥỉբ᫆䛜䜣㑇ఏᏊSomaticኚ␗䛾ศᕸ
㑇ఏᏊ

ங䛜䜣

PIK3CAX

BRCA1/2

X

X

їmTOR㜼ᐖ⸆X

XїPARP㜼ᐖ⸆䚸䝥䝷䝏䝘⣔

X

X

X

AKT1

їHer2㜼ᐖ⸆X

їAKT㜼ᐖ⸆

X

BRAF

X

їBRAF㜼ᐖ⸆

X X

CDK4
EGFR

X

X

䝗䝷䜲䝞䞊㑇ఏᏊᑐᛂ἞⒪⸆

⫵䛜䜣

X X

X

ERBB2

኱⭠䛜䜣

X

їCDK㜼ᐖ⸆XX

䝀䝜䝮་⒪䛷ᚓ䜙䜜䜛᥎ዡ἞⒪䠄䝞䝇䜿䝑䝖ᆺ䠅
䛆䛆䝫䜲䞁
䝫䜲䞁䝖
䝫
䝖䛇
䝖䛇
␗䛺䜛䛜䜣✀䛷✀䛷᭷ຠᛶ䛜ᮇᚅ
᭷ຠᛶ
ຠᛶ
ᛶ䛜ᮇᚅ
ᛶ䛜
ᚅ䛷
䛝䜛
䜛䛛䛹䛖䛛䚹

їEGFR㜼ᐖ⸆X

ALKᇶᮏⓗ䛻䛿䛜䜣✀ᶓ᩿ⓗ䛻䜶䝡䝕䞁䝇䜢ὶ⏝䛩䜛䛜䚸୍㒊ኚ␗䛿≉ᐃ䛾䛜䜣✀䛷἞⒪᢬ᢠᛶ䜢♧䛩ሙྜ䛜䛒䜛䛾䛷せὀព䠄౛ ERBB2 G778_P780dup䠅

X їALK㜼ᐖ⸆
…

…

ங䛜䜣
ᶆ‽἞⒪

኱⭠䛜䜣
ᶆ‽἞⒪

⫵䛜䜣
ᶆ‽἞⒪

HER2㝧ᛶ
їHer2㜼ᐖ⸆䞉䞉䞉

KRAS㝜ᛶ
їEGFR㜼ᐖ⸆䞉䞉䞉

EGFRኚ␗㝧ᛶ
їEGFR㜼ᐖ⸆
ALK㌿ᗙ㝧ᛶ
їALK㜼ᐖ⸆
䞉䞉䞉

୕Ꮫ఍ྜྠ
䜺䜲䝎䞁䝇

⌧᫬Ⅼ䛷ᵓ⠏䛥䜜䛶䛔䜛䜶䝡䝕䞁䝇䠄䜰䞁䝤䝺䝷ᆺ䠅
56

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㻹㼑㼠㼍㼟㼠㼍㼠㼕㼏Ҿႆߺể᠃ᆆߺỉൔ᠋

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57

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%Ტƕǜᆔƴ᧙ǘǒƣᲣᙹ೉Ʒ‫ݱ‬ƞƍᐮ࠿ᚾ᬴ưஊဇࣱƕᅆƞǕƯƍǔ

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(&#১ᛐᲢ၌धբǘƣᲣɥᚡˌ‫ٳ‬58

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COPYRIGHT 2019, MITSUBISHI SPACE SOFTWARE CO., LTD. ALL RIGHTS RESERVED

Ỻỿἣ἟ộỂỆแͳẴỔẨἙὊἑ䛆䜹䞁䝣䜯䝺䞁䝇䝅䞊䝖䛇• ἞⒪䜶䝡䝕䞁䝇䛾౛– CTB䜎䛷䛻MSS䛜‽ഛ• 䜹䞁䝣䜯䝺䞁䝇䝅䞊䝖䛾౛– CTB䛷᏶ᡂ䕔ྠ୍⒴⭘䛆἞⒪䜶䝡䝕䞁䝇䛇

䕔௚⒴⭘

䕔⸆๣⪏ᛶ
resistanceno benefit
59

COPYRIGHT 2019, MITSUBISHI SPACE SOFTWARE CO., LTD. ALL RIGHTS RESERVEDỺỿἋἣὊἚἣ἟ἽỂᛯᜭẴỔẨϋܾ• ᳨య䛸䝕䞊䝍ရ㉁䛻㛵䛩䜛ၥ㢟• ኚ␗䛾⏕≀Ꮫⓗព⩏䛵䛡䠄䛜䜣໬⬟䛺䛹ᙧ㉁⋓ᚓ䜈䛾ᐤ୚䠅– Two hit䝉䜸䝸䞊䚸heterogeneity䛺䛹䜒⪃៖䛧䛯ព⩏௜䛡

•
•
•
•

60

ኚ␗䛸ᝈ⪅ಶே䛾⮫ᗋ᝟ሗ䛻ᇶ䛵䛟⌮᝿ⓗ䛺᥎ዡ἞⒪䛸ඃඛᗘᅜෆ䛾஦᝟䠄⸆๣䜈䛾฿㐩ྍ⬟ᛶ䠅䜒ຍ࿡䛧䛯᥎ዡ἞⒪䛸ඃඛᗘணᚋ䛻㛵䛩䜛䜶䝡䝕䞁䝇䛾ゎ㔘⏕Ṫ⣽⬊⣔ิ䛾㑇ఏᏊ␗ᖖ䛾ព⩏௜䛡䛸ᑐᛂ⟇

COPYRIGHT 2019, MITSUBISHI SPACE SOFTWARE CO., LTD. ALL RIGHTS RESERVED࢘ଐỉỺỿἋἣὊἚἣ἟Ἵ᧏͵᫘୎ίWeb˟ᜭὸ䝅䝇䝔䝮䛛䜙ฟຊ䛥䜜䜛䝔䞁䝥䝺䞊䝖䛷䛿䛣䛣䛿✵ḍ䜶䜻䝇䝟䞊䝖䝟䝛䝹䛷ᢸᙜ་䛜Ỵᐃ䛩䜛䚹COPYRIGHT 2019, MITSUBISHI SPACE SOFTWARE CO., LTD. ALL RIGHTS RESERVED

61

⑕౛␒ྕ䠖099005984500䠄䠄NCCOP䠅ᖺ㱋䠖68ṓ
ᛶู䠖⏨ᛶ୰᰾ᣐⅬ⑓㝔䠖ᑽᓮ኱Ꮫ⑓㝔᳨ᰝ⏦㎸་⒪ᶵ㛵䠖୕⳻䝇䝨䞊䝇⑓㝔ᢸᙜ་䠖୕⳻ ኴ㑻
Ⓩ㘓᪥䠖2019/9/17
PS: 0䛜䜣✀༊ศ䠖⭈㌿⛣㒊఩䠖䝸䞁䝟⣔᪤▱䛾㑇ఏᏊ␗ᖖ䠖⑓⌮デ᩿ྡ䠖⭈⣽⬊䛜䜣᳨య✀ู䠖FFPE᳨య᥇ྲྀ᪥䠖2015/1/26䠄ᡭ⾡䠅⮫ᗋ⤒㐣䠖
2015/1/26 ᡭ⾡䠄⭈⮚䠅
2016/7/7-2016/11/25 ⾡ᚋ⿵ຓ⒪ἲ CDDP : ᭱Ⰻ⥲ྜຠᯝPRᮏேᕼᮃ䛻䜘䜚୰Ṇ䚸᭷ᐖ஦㇟䛒䜚
2017/1/11-2017/4/30 ⾡ᚋ⿵ຓ⒪ἲ 䜻䜲䝖䝹䞊䝎἞⒪䠖᭱Ⰻ⥲ྜຠᯝPD↓ຠ୰Ṇ
2018/5/18- ⾡ᚋ⿵ຓ⒪ἲ CDDP : ᭱Ⰻ⥲ྜຠᯝPR⥅⥆୰᳨య᥇ྲྀ㒊఩䠖ཎⓎᕢ᥇ྲྀ㒊఩䠖⭈Ꮧ䛜䜣⣽⬊ྵ᭷⋡䠖60%䛆㑇ఏᏊ䝥䝻䝣䜯䜲䝹䛻ᇶ䛵䛟᥎ዡ἞⒪䛇
1.
2.

䛆ᐙ᪘Ṕ䛇䛺䛧
䛆㔜」䛜䜣䛇䛺䛧
䛆ከⓎ䛜䜣䛇䛺䛧
䛆ႚ↮Ṕ䛇䛒䜚
䛆䜰䝹䝁䞊䝹ከ㣧䛇䛺䛧䛆᪤ Ṕ䠄ᝏᛶ⭘⒆䠅䛇䛺䛧䛆Germline᝟ሗ㛤♧ᕼᮃ䛇᭷䜚䛆ᥦ౪䛥䜜䛯᝟ሗ䞉䝀䝜䝮䝕䞊䝍➼䛾➨୕⪅ᥦ౪䜈䛾ྠព䛇䛒䜚

3.
4.
5.

CTNNB1 act mut э ICI decreased response
CDK4amp/MDM2 amp э ICI no benefit
PTEN inact mut э ḟ䛾䝨䞊䝆ཧ↷䛆䜻䝳䝺䞊䝅䝵䞁⤖ᯝ䛾䜎䛸䜑䛇¾ Actionable㑇ఏᏊ␗ᖖ
CTNNB1 S45F(PLS=3), PTEN R130*(PLS=2/3), ARID2
p.E1247*(PLS=2/3), CDK4 amp(PLS=3), MDM2 amp(PLS=3)¾ Druggable㑇ఏᏊ␗ᖖ
CTNNB1 S45F, PTEN R130*, CDK4 amp, MDM2 amp¾ Germline Variants䛺䛧62䜶䜻䝇䝟䞊䝖䝟䝛䝹ᐇ᪋᪥䠖2019ᖺ10᭶30᪥

CTLA4ᢠయ + PD-1/PD-L1ᢠయ C-3
э TMB highImatinibC-3
э CTNNB1 S45F
Palbociclib
C-3
DS-3032b䜎䛯䛿AMG 232
C-4ྰᐃⓗ䜶䝡䝕䞁䝇䛒䜚䛆⥲ྜⓗุ᩿䛻ᇶ䛵䛟᥎ዡ἞⒪䛇
1.
2.
3.

Imatinib or Palbociclib䠄ᝈ⪅⏦ฟ⒪㣴ไᗘ䠅
эCTNNB1 S45F, CDK4 amp
DS-3032b䜎䛯䛿AMG 232䠄἞㦂ᚅ䛱䠅
эMDM2 amp
CTLA4ᢠయ + PD-1/PD-L1ᢠయ䠄⮬㈝デ⒪䠅
э TMB high

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suup
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support your discovery
MSS Bioinformatics

䛜䜣䝀䝜䝮་⒪䛾⌧≧64

COPYRIGHT 2019, MITSUBISHI SPACE SOFTWARE CO., LTD. ALL RIGHTS RESERVEDPleSSision-DB ầỮἄἠἲDBỉᔛᆢ
800

700

䠎䠌䠍䠔ᖺ䠍䠍᭶᫬Ⅼ䠖䠓䠍䠔⑕౛䠄䜻䝳䝺䞊䝅䝵䞁῭䜏䚸⣙༙ᩘ䜶䜻䝇䝟䞊䝖䝟䝛䝹῭䜏䠅
PleSSision/PleSSision-Rapidྜィ

600

500

400

300

200

100

0

COPYRIGHT 2019, MITSUBISHI SPACE SOFTWARE CO., LTD. ALL RIGHTS RESERVED

65

PleSSision౨௹ ၐ̊ૠ

Pancreas, 50

Others, 43

Unknown
Primary, 7

኱⭠, 34䛭䛾௚, 27⫢, 4

Prostate, 9Biliary, 10
Peritoneal,
11
Esophagus,
12
Stomach,14

㢌㢕㒊, 6

Colorectal, 36➨஧ᮇPleSSision
N=312
2017/7/4~2018/11/7

66➨୍ᮇ N=161
2016/4/1~2017/4/20

㣗㐨, 8

⮅, 29

⫹㐨, 11

Breast, 30
ங⭢, 20

Cervix, 16
NSCLC, 26Ἢᒀჾ, 8

Ꮚᐑ, 12

Ovary, 27

Endometrial,
28

⫶, 13

༸ᕢ, 14⫵, 15

COPYRIGHT 2019, MITSUBISHI SPACE SOFTWARE CO., LTD. ALL RIGHTS RESERVEDܱᨥỆ඙ၲỆếễầỦधᎍẆᕤдỉјௐỊᾎ• Genotype Matched Treatment䛾ຠᯝᐇ㝿䛻἞⒪䛧䛯⤖ᯝ䠄䝧䝇䝖䝺䝇䝫䞁䝇䠅͗ΞΰόϞҫྏ͹ࣰࢬྭ
350

TOP-GEARங䛜䜣䛾䜏24⑕౛

PleSSisionዌຠ๭ྜ(PR+CR)

38%

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(CR+PR+SD)

ᮍⓎ⾲

73%

92%

300
250
200

59%

83%
59%

150
100

13%

50

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PleSSision࣑ྏᶆ‽἞⒪୙ᛂ䛾ᝈ⪅ᒙ䛸䛧䛶䛿Ⰻዲ䛺ຠᯝ᪥⤒䝞䜲䝔䜽䜸䞁䝷䜲䞁 2019ᖺ10᭶28᪥䛾グ஦䜢䝧䞊䝇䛻㇂ᔱ䛜䜎䛸䜑䛯䜒䛾
COPYRIGHT 2019, MITSUBISHI SPACE SOFTWARE CO., LTD. ALL RIGHTS RESERVED

67

ἋἅỴỆợụầỮᆔ್ૺႎễधᎍỉ‫ޖ‬К҄䝗䝷䜲䝞䞊ኚ␗䛸Genotype-matched Therapy⤖ᯝ䛛䜙ᚓ䜙䜜䛯ᝈ⪅ᒙู໬䝬䝑䝥᥎ዡ䛷䛝䜛⸆๣↓䛧㑇ఏᏊ䝟䝛䝹᳨ᰝ䛻ᇶ䛵䛟䛜䜣デ⒪䜺䜲䝎䞁䝇㻝㻚㻜∧㻔䛜䜣✀ၥ䜟䛪䝧䝇䝖䛾䝺䝧䝹㻕᭷ຠ䛺⸆๣᭷

⸆๣᥎ዡ㡿ᇦ
䠄䠑䠕䠂䠅

ዌຠ⋡
CR/PR
70%௨ୖ

ซ౛䠖䖃䠖㻼㻾䚸䕔㻿㻰䚸㽢䠖㻼㻰䚷㉥Ꮠ䛿㻷㻾㻭㻿㝧ᛶ⑕౛

㻝㻭
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䖃䖃䖃䖃䖃

䝗䝷䜲䝞䞊㑇ఏᏊኚ␗୙᫂
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䝗䝷䜲䝞䞊㑇ఏᏊኚ␗୙᫂᪂つ䝁䞁䝉䝥䝖἞⒪ἲ䛾㛤Ⓨ

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㻟

㻟㻚㻡

᫂☜䛺䝗䝷䜲䝞䞊᭷᫂☜䛺䝗䝷䜲䝞䞊↓᳨ฟ䛥䜜䛯䝗䝷䜲䝞䞊㑇ఏᏊኚ␗䛾䝇䝁䜰䠄䛜䜣䛾Ⓨ⑕䞉ቑṪ䛻㛵䜟䜛ᅉᏊ䠅68

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support your discovery
MSS Bioinformatics

௒ᚋ䛾ᒎ㛤

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69ầỮἄἠἲҔၲỉբ᫆ໜ

ᝏᾮ㉁

἞⒪㛤ጞ

ဵ䠗
ECOG PS(Performance Status)PSဵ ᛴ㏿䛻ᝏ໬䠄0/1ĺ2/3/4䠅

ಶே㍺ධ

㌿⛣ᕢቑ኱

೔⌮ᑂᰝᚅ参䠑䠕䠂䛾ே䛻⸆๣䜢᥎ዡ䛷䛝䛶䛔䜛

䠍䞃᭶⛬ᗘ
㈝⏝叏☜ಖ

ᝈ⪅䛥䜣
䛾ኚ໬

⮬㈝デ⒪ ⑓㝔᥈厹

෌Ⓨᚋ໬Ꮫ⒪ἲљ୙ᛂ䠍䞃᭶⛬ᗘ἞㦂叿呉吟呁᮲௳厭只叏㐓⬺䠍䞃᭶⛬ᗘ䛜䜣䝀䝜䝮᳨ᰝṚஸ䜢ྵ䜐἞⒪୙ᛂ≧ែ

἞⒪䜢ᚅ䛯䛪䛻≧ែ䛜ᛴ㏿䛻ᝏ໬䚸἞⒪䛻⮳䜙䛪෌Ⓨᚋ໬Ꮫ⒪ἲї୙ᛂ䜎䛷䛾἞⒪䛿䝀䝜䝮䛷᭱㐺໬䛥䜜䛺䛔

70

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厵厵叟又฿㐩又厯召叏叐咆咊咄咊䠂• ᶆ‽἞⒪⤊஢ᚋ䛾㐺ᛂ䛷䛿἞⒪䜎䛷䛾฿㐩⋡䛜ప䛔˯ἅἋἚἋἁἼὊἝὅἂ౨௹ PleSSision Rapid ửܱྵ៞᠕኱Ꮫ⑓㝔䛷⮫ᗋ◊✲䛸䛧䛶ᐇド୰

PleSSisio᳨ᰝᐇ⦼䠄⣙1000௳䠅䛆ᐇ⦼䝕䞊䝍䛻䜘䜛ᨵⰋ䛇䞉ⷧㄞ䜏䛻䜘䜛䝁䝇䝖䝎䜴䞁䞉䛜䜣᳨య䛰䛡䛻䜘䜛䝁䝇䝖䝎䜴䞁䞉䝺䝫䞊䝖᏶඲⮬ື໬䛻䜘䜛䝁䝇䝖䝎䜴䞁

3୓෇
/⑕౛

䛆PleSSision Rapid୰㛫ホ౯䛇⣙4๭䛾ᝈ⪅䛥䜣䛻䚸ዌຠ
ᮇᚅ್7๭䛾ศᏊᶆⓗ⸆䜢᥎ዡ䛷䛝䛶䛔䜛
⌧᫬Ⅼ䛷඲᪂ᝈ䠄100୓ே䠅䛻㐺ᛂ䛧䛯䛸䛧䛶⥲㢠300൨෇ї༢౯1୓෇⛬ᗘ䜎䛷䝁䝇䝖䝎䜴䞁ྍ⬟ї㏆䛔ᑗ᮶⥲㢠100൨෇䛾᳨ᰝ䝁䝇䝖䛷඲ᅜẸ䜢ᑐ㇟䛸䛩䜛䝀䝜䝮་⒪యไ䛜᏶ᡂ䛩䜛䚹
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71

ᩊ඙ࣱầỮίᐘầỮỉ‫ئ‬ӳὸỊᾈлˌɥẐ඙ၲễẲẑ⮅䛜䜣䛷ぢ䜙䜜䜛䝀䝜䝮ኚ␗䠄䝀䝜䝮᳨ᰝ⤖ᯝ䠅
KRAS㝜ᛶ

5%䝀䝜䝮᳨ᰝ䛛䜙
ᮇᚅ䛷䛝䜛἞⒪䝍䞊䝀䝑䝖䞉⼥ྜ㑇ఏᏊ
ALK, RET, ROS1, FGFR, NTRK,…
䞉䝗䝷䜲䝞䞊ኚ␗
EGFR Amp, BRAF V600E,…

᭷ຠ䛺἞⒪ἲ䛜ぢ䛴䛛䜛䛾䛿10%௨ୗ䠄඲ᝈ⪅䛿59%䠅

5%䛾㡿ᇦ䛻䛚䛔䛶ᵝ䚻䛺䝍䞊䝀䝑䝖䛜ぢ䛴䛛䜛

95% KRAS㝧ᛶ䞉䝀䝜䝮୙Ᏻᐃᛶ
HRD(Homologous Recombination Deficiency)䞉ච␿䝏䜵䝑䜽䝫䜲䞁䝖㜼ᐖ⸆
Hypermutated䚸ච␿ᛂ⟅ᛶ䛾ホ౯䞉Combination Treatment䛜䜣ቑṪ䝟䝇䜴䜵䜲඲య䛾ᢕᥱ

9๭௨ୖ䛾⑕౛䛿䛂἞⒪ἲ↓䛧䛃

95%䛾㡿ᇦ䛻䛚䛔䛶䛿䚸⌧ᅾ䛾䝟䝛䝹᳨ᰝ䛷䛿᭷ຠ䛺䝍䞊䝀䝑䝖䛿ぢ䛴䛛䜙䛺䛔䠄䝍䞊䝀䝑䝖㝧ᛶ⋡䛿ᩘ䠂䠅䜘䜚䝍䞊䝀䝑䝖ᑐᛂ✀ู䛜ከ䛔䚸㧗ᗘ໬䛧䛯䝀䝜䝮᳨ᰝ䠄䜶䜽䝋䞊䝮᳨ᰝ䠅䛾ᑟධ䛜ᮃ䜎䜜䜛
72

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᭗ࡇἄἠἲ౨௹PleSSision Exomeኰʼᚑ᮶䛾䝟䝛䝹䛿䛂䝬䝹䝏䝥䝺䝑䜽䝇䝁䞁䝟䝙䜸䞁䛃䛸䛔䛖ほⅬศᏊᶆⓗ⸆
Oncogene䚸Fusiongene
Tumor Suppressor Gene䛜䜣ቑṪ䛾䝟䝇䜴䜵䜲ஹ㐍䛜䜣ቑṪ䛾పୗ
୍ḟⓗ䛺⦰ᑠຠᯝ

㑇ఏᏊኚ␗䚸ᵓ㐀ኚ␗䝀䝜䝮䛾඲ㇺ䜢ぢ䜛䛣䛸䛷௨ୗ䛜ぢ䛘䛶䛟䜛䠄⬺䝁䞁䝟䝙䜸䞁䠅

PARP㜼ᐖ⸆䚸ᨺᑕ⥺⒪ἲ䚸䝥䝷䝏䝘〇๣

DDR㑇ఏᏊ䛾ኻά
䠄BER䚸MMR䚸NER䚸TLS䚸NHEJ䚸HR䠅䝀䝜䝮୙Ᏻᐃᛶ

ච␿㑇ఏᏊኚ␗䚸neoantigen䛜䜣⣽⬊Ṛච␿䝏䜵䝑䜽䝫䜲䞁䝖㜼ᐖ๣TMB䠄㉁䛸㔞䠅䚸Indel䚸HLA䚸ADCC
ච␿㑇ఏᏊ䚸⭘⒆ච␿᢬ᢠᛶ

䛜䜣ච␿పୗ

᫂☜䛺䝗䝷䜲䝞䞊ኚ␗
䛜䛺䛔⑕౛䛾἞⒪ຠᯝ䛜ᮇᚅ䛷䛝䜛䛜䜣ච␿䛾᚟ά

PleSSision Exome䛿2019ᖺ3᭶11᪥䛻៞᠕኱Ꮫ⑓་㝔䛷䝇䝍䞊䝖
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73

໒ణ崯嵤崧崣嵛崧嵤য়峋঱岼‫ق‬ফা‫ك‬䛤ཧຍ᪋タ㞟Ⲵ䚸DNAᢳฟPFPE䞉ᮎᲈ⾑DNA

DNA

RBI
䝻䝪䝑䝖໬
㐃⥆⮬ືฎ⌮

᥎ዡ἞⒪⟃Ἴ኱Ꮫ䝥䝺䝅䝆䝵䞁䞉䝯䝕䜱䝇䞁㛤Ⓨ䝉䞁䝍䞊䠄PMC䠅
iLAC⾨⏕᳨ᰝᡤ

䝅䞊䜿䞁䝇
䝷䜲䝤䝷䝸

iLAC
NovaSeq䜘䜛㉸㧗㏿䝅䞊䜿䞁䝇
䝅䞊䜿䞁䝇䝕䞊䝍䜶䜻䝇䝟䞊䝖䝟䝛䝹MSS⟃Ἴ䝕䞊䝍䝉䞁䝍䞊
ゎᯒሗ࿌᭩

74

䕔≉ᚩ
䞉䝀䝜䝮ゎᯒᑓ⏝DRAGEN/FPGA x2ྎ䞉ゎᯒィ⟬䝜䞊䝗
R730 x 5ྎ䞉䝇䝖䝺䞊䝆
୪ิ㧗㏿DDN GS7000

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ឬ᭗ᡮἄἠἲ‫ݦ‬ဇἩἿἍἕἇ DRAGENCOPYRIGHT 2019, MITSUBISHI SPACE SOFTWARE CO., LTD. ALL RIGHTS RESERVED

75ᡫࠝἉἋἘἲểỉൔ᠋ί24core/256GB x4 nodeὸ䝟䜲䝥䝷䜲䞁ᐇ⾜᫬㛫ẚ㍑(dragen vs PleSSisionExome)
800000SampleA

700000SampleB
8d4h32m

SampleC

7d4h57m

7d4h23mᐇ⾜᫬㛫(⛊)

600000500000400000300000

3
8
2
ಸ

3
3
9
ಸ

3
6
1
ಸ

20000010000007630m38s

30m54s28m37sSampleA-dragen

SampleA

SampleB-dragen

SampleB

SampleC-dragen

VariantCall

657

21420

685

19320

636

SampleC
18720

CreateAnalysisRdyBAM

883

516780887

637740810

559680QC+Mapping

298

84420

282

50460

271

42180

COPYRIGHT 2019, MITSUBISHI SPACE SOFTWARE CO., LTD. ALL RIGHTS RESERVEDϼྸὉЙૺỉᐯѣ҄ίAIỉ෇ဇὸ• 䛜䜣䝀䝜䝮ኚ␗䚸᥎ዡ἞⒪䛾▱㆑䝧䞊䝇ᵓ⠏э 䛣䜜䛿䜒䛿䜔䜸䞊䝹䝗䝣䜯䝑䝅䝵䞁• Molecular Cancer Board, Clinical Board, Expert Panel䛷ᚓ䜙䜜䛯ᬯ㯲▱䜢ᙧᘧ▱䛸䛧䛯▱㆑䝧䞊䝇䛾ᵓ⠏– 」ᩘ䛾἞⒪䜶䝡䝕䞁䝇䚸ྰᐃⓗ䜶䝡䝕䞁䝇䛛䜙䛹䛾䜘䛖䛻᥎ዡ἞⒪䛜Ỵᐃ䛥䜜䛯䛛– ᥎ዡ἞⒪䛛䜙ᐇ㝿䛻⾜䜟䜜䛯἞⒪䛾䜼䝱䝑䝥䛿䛺䛬Ⓨ⏕䛧䛯䛛– 䛭䜒䛭䜒䚸⸆๣᥎ዡ䛥䜜䛶ᐇ㝿䛻἞⒪䛥䜜䛺䛛䛳䛯⌮⏤䛿䛺䛻䛛– 㐺⏝እ౑⏝䛺䛹䛾᮲௳䚸἞⒪ሙᡤ䜢䛹䛾䜘䛖䛻Ỵ䜑䜛䛛– 䞉䞉䞉• 䛭䛾⑕౛䚸་⒪ᶵ㛵䛻౫Ꮡ䛧䛶Ⓨ⏕䛩䜛ၥ㢟ゎỴ䜢ᨭ᥼䛩䜛䝅䝇䝔䝮䛜ᮃ䜎䜜䜛

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77ấỪụ岾஬ല岬峴岶峒岰岾峀岮峨峁峉岞岾ସਖ岝崛嵉嵛崰峼岴ൢ岮岮峉峁峨峃岞78

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