日本血液学会 造血器腫瘍ゲノム検査ガイドライン2018年版

遺伝子

別名

該当する造血器腫瘍

遺伝子異常と関連した薬剤

ZRSR2 AML, MDS
ZNF384 B-ALL
ZBTB7A AML
XPO1 CRM1 PMBL, CHL
WWOX MM
WT1 AML, MDS
VAV1 ATLL, PTCL-NOS
USH2A B-ALL
UBR5 MCL
U2AF2 U2AF65 MDS
U2AF1 U2AF35 AML, MDS, ET
TYK2 B-ALL, C-ALCL
TSC2 NHL
TSC1 NHL
TRG T-NHL
TRD T-ALL, T-NHL
TRB T-ALL, T-NHL
TRAF5 DLBCL
TRAF3 MM
TRAF2 DLBCL
TRA T-ALL, T-PLL
TP73 FL, ATLL
TP63 ALCL (ALK-), C-ALCL
TP53BP2 CML
TP53 CHIP, AML, MDS, MPN, t-MNs, CML, Li-Fraumeni syndrome, B-ALL, B-lymphoblastic leukaemia/lymphoma with hypodiploidy, B-ALL, DLBCL, FL, BL, SMZL, MCL, HGBL, LBCL with IRF4-r, CLL/SLL, MM, WM/LPL, EATL, ENKTL, ALCL (ALK-), SS, T-PLL
TNFRSF1B TNFR2 SS
TNFRSF14 HVEM DLBCL, FL
TNFAIP3 A20 DLBCL, FL, MALT, MCL, PMBL, CHL
TLX3 HOX11L2 T-ALL
TLX1 HOX11 T-ALL
TINF2 IBMFS: Dyskeratosis congenita
TET2 CHIP, AML, MDS, MPN, CMML, MPAL, FTCL, Nodal PTCL with TFH phenotype, AITL
TERT IBMFS: Dyskeratosis congenita
TERC IBMFS: Dyskeratosis congenita
TCL1B T-PLL
TCL1A T-PLL
TCF7 T-ALL
TCF3 E2A B-ALL, B-lymphoblastic leukaemia/lymphoma with t(1;19)(q23;p13.3); TCF3-PBX1, BL
TBL1XR1 DLBCL, ATLL
TAL1 T-ALL
SYK AITL, FTCL
SUZ12 MDS/AA, Myeloid leukaemia associated with Down syndrome (AMKL)
SUSD2 PCNSL
STMN1 T-ALL
STIL T-ALL
STAT6 DLBCL, PMBL
STAT5B EATL, ENKTL, HSTL, MEITL, T-LGL, T-PLL, SS
STAT3 ALCL (ALK-), EATL, ATLL, ENKTL, HSTL, T-LGL, Mycosis fungoides, CLPD-NK
STAG2 AML, MDS
SSBP2 B-ALL
SRSF2 AML, MDS, MPN, CNL, CMML
SRP72 Myeloid neoplsms with germline predisposition
SRC NHL
SPI1 PU.1 T-ALL
SPEN DLBCL
SP140 MM
SOCS1 DLBCL, PMBL, CHL
SMO NHL
SMC3 AML, MDS
SMC1A AML, MDS
SMARCA4 BL
SH2B3 LNK CHIP, Familial MPN, ET, MF, Myeloid leukaemia associated with Down syndrome (AMKL), B-ALL, T-ALL
SGK1 DLBCL, NLPHL
SF3B1 CHIP, AML, MDS, ET, CLL/SLL
SETD2 HSTL, MEITL
SETD1B DLBCL
SETBP1 MDS, aCML, CNL
SBDS IBMFS: Shwachmann-Diamond syndrome, MDS
SAMD9L IBMFS
SAMD9 IBMFS
RUNX1T1 ETO, MTG8 AML
RUNX1 AML1 AML with RUNX1-RUNX1T1, AML with MRC, AML with mutated RUNX1, MDS, Myeloid neoplsms with germline predisposition, MPN, CML, B-lymphoblastic leukaemia/lymphoma with iAMP21, B-lymphoblastic leukaemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1, T-ALL
RRAGC FL
RPL10 T-ALL
RPL5 T-ALL
ROS1 JMML, NHL Crizotinib, Entrectinib
ROBO2 MDS
ROBO1 MDS
RIT1 MDS/AA
RHOH TTF NLPHL, PCNSL
RHOA BL, AITL, FTCL, Nodal PTCL with TFH phenotype, SS
RET NHL Alectinib, Regorafenib
REL DLBCL, PMBL, CHL
RB1 B-ALL, MCL, MM
RASA2 MM
RARA APL ATRA, Trisenoox (ATO)
RAF1 NHL Regorafenib
RAD21 CHIP, AML, MDS
PVT1 MM
PTPRK ENKTL
PTPN11 MDS, JMML, JMML associated with Noonan syndrome
PTPN1 PMBL, CHL
PTEN NHL, FL, Mycosis fungoides
PTCH1 NHL
PSMB5 MM
PRPS1 B-ALL
PRPF8 MDS
PRKD2 MM
PRKCB ATLL
PRDM1 BLIMP1 DLBCL, PCNSL, MM, ENKTL, ALCL (ALK-)
PPM1D CHIP, AML
POT1 CLL/SLL
PML APL with PML-RARA ATRA, Trisenoox (ATO)
PLCG2 CLL/SLL
PLCG1 AITL, ATLL, SS
PIM1 NLPHL, PCNSL
PIK3R1 NHL, BL LY3023414
PIK3CD PI3K-delta HSTL Copanlisib
PIK3CA PI3K-alpha NHL, MM Taselisib, LY3023414
PIGA MDS/AA
PICALM CALM AML, T-ALL
PHF6 AML, MDS
PEG3 MDS/AA
PDS5B CHIP, Myeloid neoplsms with germline predisposition
PDGFRB AML with MRC, Myeloid/lymphoid neoplasms with eosinophilia, NHL, B-ALL Imatinib, Dovitinib, Regorafenib, Sunitinib
PDGFRA Myeloid/lymphoid neoplasms with eosinophilia, NHL Imatinib, Dovitinib, Regorafenib, Sunitinib
PDCD1LG2 PD-L2 DLBCL, PMBL, CHL
PDCD1 ATLL
PCM1 Myeloid/lymphoid neoplasms with eosinophilia
PBX1 B-lymphoblastic leukaemia/lymphoma with t(1;19)(q23;p13.3); TCF3-PBX1
PAX5 B-ALL, NLPHL, PCNSL, WM/LPL
P2RY8 B-ALL
OSBPL10 PCNSL
NUP98 AML
NUP214 AML
NTRK3 TrkC NHL, B-ALL Entrectinib, Larotrectinib
NTRK2 TrkB NHL Entrectinib, Larotrectinib
NTRK1 TrkA NHL Entrectinib, Larotrectinib
NT5C2 B-ALL
NSD2 WHSC1, MMSET MCL, MM, B-ALL
NSD1 AML
NRAS AML, MDS, AML, MDS, MF, JMML, B-ALL, NHL, MM, ETP-ALL, T-ALL, ENKTL
NR3C1 BPDCN
NPM1 AML, AML with mutated NPM1, AML, AML with MRC, ALCL (ALK+)
NOTCH2 MCL, SMZL, T-ALL
NOTCH1 T-ALL, MPAL, CLL/SLL, MCL
NIPBL Myeloid leukaemia associated with Down syndrome (AMKL)
NFKBIE PMBL
NFKBIA MM
NFKB2 MM
NF2 Merlin NHL
NF1 AML, MDS, JMML, JMML associated with Nuerofibromatosis, MF, NHL
NDE1 AML with MRC
MYH11 AML with CBFB-MYH11
MYD88 DLBCL, HGBL, MALT, WM/LPL, CLL/SLL, PCNSL
MYC DLBCL, BL, HGBL, FL, MCL, NLPHL, CLL/SLL, PBL, PCNSL, CLL/SLL, WM/LPL, MM, MEITL, PCNSL, ALCL (ALK+), T-ALL, T-PLL
MYBBP1A WM/LPL
MTOR NHL, T-ALL Sapanisertib, Temsirolimus, LY3023414
MTCP1 T-PLL
MSN ENKTL
MPL MDS, PV, ET, MF
MNX1 AML
MLLT4 AF4 AML
MLLT3 AF9 B-lymphoblastic leukaemia/lymphoma with t(v;11q23.3); KMT2A rearranged
MLLT11 AF11 AML
MLLT10 AF10 AML, T-ALL
MLLT1 ENL B-lymphoblastic leukaemia/lymphoma with t(v;11q23.3); KMT2A rearranged, T-ALL
MLF1 AML, AML with MRC
MKL1 AML with RBM15-MKL1
miR16-1 CLL/SLL
miR-15a CLL/SLL
MGA AML, ENKTL
MFHAS1 PMBL
MET NHL Crizotinib, PF-02341066
MEF2D B-ALL
MEF2B DLBCL, FL
MECOM EVI1 AML, CML
MDM2 DLBCL DS-3032b, APG-115
MAX MM
MAP3K14 NIK MM
MAP2K1 MEK1 HCL-v
MALT1 MALT, PCNSL
MAFB MM
MAFA MM
MAF C-MAF MM
LYN NHL Bosutinib
LYL1 T-ALL
LUC7L2 MDS
LTB MM
LMO2 RBTN2 T-ALL
LMO1 RBTN1 T-ALL
LCK NHL, T-ALL Bosutinib, Dasatinib
LAMB4 MDS/AA
KRAS AML, JMML, JMML associated with Noonan syndrome, MDS, NHL, MM, B-ALL, ETP-ALL, T-ALL
KMT2D MLL2 FL, DLBCL, MCL, WM/LPL, ENKTL
KMT2C MLL3 DLBCL
KMT2A MLL AML, AML with KMT2A-MLLT3, B-lymphoblastic leukaemia/lymphoma with t(v;11q23.3); KMT2A rearranged, T-ALL
KLHL14 PCNSL
KLF2 SMZL
KIT C-KIT AML, Mastocytosis Midostaurin, Dasatinib, Imatinib, Blu-285
KDM6A UTX CMML
KAT6A AML with MRC
KANSL1 Myeloid leukaemia associated with Down syndrome (AMKL)
JUNB NLPHL
JAK3 MDS/AA, EATL, ENKTL, T-ALL, ATLL, MEITL, SS, T-PLL Ruxolitinib
JAK2 AML, MDS, MF, ET, PV, aCML, CNL, Myeloid neoplsms with germline predisposition, Myeloid/lymphoid neoplasms with eosinophilia, B-ALL, PMBL, CHL Ruxolitinib
JAK1 B-ALL, ALCL (ALK-), EATL, T-ALL, T-PLL Ruxolitinib
ITPKB PMBL
ITK AITL, FTCL
IRF8 DLBCL
IRF4 LBCL with IRF4-r, MM, ATLL
IRF2BP2 ATLL
INPP5D SHIP PCNSL
INO80 HSTL
IL7R T-ALL
IL3 B-lymphoblastic leukaemia/lymphoma with t(5;14)(q31.1;q32.1); IGH/IL3
IKZF2 ATLL
IKZF1 CHIP, MPN, CML, B-ALL
IGL B-NHL
IGK B-NHL
IGH B-ALL, B-NHL, CLL/SLL, T-ALL
IDH2 CHIP, AML, MDS, MPN, CMML, ETP-ALL, MPAL, AITL Enasidenib
IDH1 CHIP, AML, MDS, MPN, ETP-ALL, MPAL Ivosidenib (AG-120 ), BAY1436032, FT-2102
ID3 BL, HGBL
HRAS AML, NHL
HNRNPA2B1 ATLL
HLF B-ALL
HLA-DRB5 DLBCL, PCNSL
HLA-DRB1 DLBCL, PCNSL
HLA-DQB2 DLBCL, PCNSL
HLA-DQB1 DLBCL, PCNSL
HLA-DQA2 DLBCL, PCNSL
HLA-DQA1 DLBCL, PCNSL
HLA-C DLBCL
HLA-B DLBCL
HLA-A DLBCL
HIST1H1E DLBCL, MM
HAX1 IBMFS: Severe congenital neutropenia
GSKIP Familial MPN
GRB2 PCNSL
GPR183 ATLL
GNB1 CHIP, MDS
GNAS MDS
GNAQ NHL
GNAI2 MEITL
GNA13 DLBCL
GNA11 NHL
GLIS2 AML
GFI1 IBMFS: Severe congenital neutropenia
GATA3 ETP-ALL, ATLL
GATA2 AML with GATA2, MECOM, MDS, Myeloid neoplsms with germline predisposition
GATA1 TAM, Myeloid leukaemia associated with Down syndrome (AMKL)
FYN NHL, AITL, ATLL Dasatinib
FUS AML
FOXP1 MALT
FOXO3 ENKTL
FOXO1 DLBCL, FL
FLT3 AML, MDS, MF, B-ALL, AUL, MDS Midostaurin, Crenolanib, Sorafenib, Quizartinib, Gilteritinib, FF-10101
FIP1L1 Myeloid/lymphoid neoplasms with eosinophilia Imatinib
FGFR3 NHL, MM AZD4547, Dovitinib, BAY1163877
FGFR2 NHL AZD4547, Dovitinib, BAY1163877
FGFR1 Myeloid/lymphoid neoplasms with eosinophilia, NHL AZD4547, Dovitinib, BAY1163877
FBXW7 FBW7 T-ALL
FAS FL, ATLL, ENKTL
FANCG IBMFS: Fanconi anemia
FANCF IBMFS: Fanconi anemia
FANCE IBMFS: Fanconi anemia
FANCC IBMFS: Fanconi anemia
FANCA IBMFS: Fanconi anemia
FAM46C MM
FAF1 MM
EZH2 AML, MDS, MPN, Myeloid leukaemia associated with Down syndrome (AMKL), FL, DLBCL, T-PLL Tazemetostat
ETV6 TEL CHIP, AML, MDS, MPN, Myeloid neoplsms with germline predisposition, B-ALL, MPAL, B-lymphoblastic leukaemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1
ETNK1 aCML
ERG AML, B-ALL
ERCC6L2 IBMFS
ERBB2 HER2 NHL Pertuzumab, Trastuzumab, Lapatinib
EPOR B-ALL
EPHA7 FL
EP300 DLBCL, FL, B-ALL, ENKTL, ETP-ALL
ELANE ELA2 IBMFS: Severe congenital neutropenia
EGFR MPN, NHL Gefitinib, Erlotinib, Afatinib, Osimertinib, Cetuximab, Panitumumab, Vandetanib, Necitumumab
EED MDS/AA
EBF1 FL, B-ALL
DUX4 B-ALL
DUSP22 ALCL (ALK-), C-ALCL
DUSP2 NLPHL
DTX1 DLBCL
DNMT3A CHIP, AML, MDS, MPN, CML, ETP-ALL, MPAL, FTCL, T-ALL, AITL, Nodal PTCL with TFH phenotype, SS
DKC1 IBMFS: Dyskeratosis congenita
DIS3 MM
DHX15 AML
DEK AML with DEK-NUP214
DDX41 MDS, Myeloid neoplsms with germline predisposition
DDX3X ENKTL
DDR2 NHL Dasatinib
DCAF7 Myeloid leukaemia associated with Down syndrome (AMKL)
CYLD MM
CXCR4 WM/LPL
CUX1 MDS, MPN, CHIP
CTLA4 AITL
CTCF MDS, Myeloid leukaemia associated with Down syndrome (AMKL)
CSNK1A1 MDS
CSF3R GCSFR aCML, CNL, IBMFS: Severe congenital neutropenia
CSF1R B-ALL
CRLF2 B-ALL
CREBBP AML with MRC, B-ALL, DLBCL, FL
CRBN MM
CLTC LBCL (ALK+)
CKS1B MM
CIITA DLBCL, PCNSL, PMBL
CIC T-ALL
CHEK2 Myeloid neoplsms with germline predisposition
CEBPA AML, AML with biallelic mutation of CEBPA, Myeloid neoplsms with germline predisposition
CDKN2C INK4C MCL, MM
CDKN2B INK4B B-ALL, EATL, ENKTL
CDKN2A INK4A, ARF CML, DLBCL, MCL, FL, B-ALL, CLL/SLL, T-ALL, ATLL, EATL, ENKTL, SS, Mycosis fungoides
CDKN1B KIP1 HCL
CDK6 NHL, SMZL Ribociclib, Palbociclib
CDK4 NHL, MCL, MM Ribociclib, Palbociclib
CD79B DLBCL, PCNSL, WM/LPL
CD79A DLBCL
CD70 DLBCL
CD58 DLBCL
CD28 AITL, SS
CD274 PD-L1 DLBCL, PMBL, CHL, ATLL Nivolumab, Pembrolizumab
CCR7 ATLL
CCR4 ATLL Mogamulizumab
CCND3 BL, NHL, MM, T-ALL
CCND2 AML, MCL, NHL, MM
CCND1 MCL, NHL, MM
CBLB CHIP
CBL C-CBL AML, CMML, CNL, JMML, JMML associated with Noonan syndrome, MDS, MF, PCNSL, CHIP
CBFB AML with CBFB-MYH11
CBFA2T3 MTG16 AML
CARD11 ATLL, DLBCL, FL, PCNSL
CALR ET, MF, PV
BTK CLL/SLL Ibrutinib
BTG2 DLBCL
BTG1 B-ALL, DLBCL
BRCC3 CHIP, MDS
BRCA2 Myeloid neoplsms with germline predisposition, NHL
BRCA1 Myeloid neoplsms with germline predisposition, NHL
BRAF AML, MM, HCL Dabrafenib, Encorafenib, Vemurafenib
BMI1 MCL
BLNK PCNSL
BLM Bloom syndrome
BIRC3 cIAP2 CLL/SLL, MALT, MM
BIRC2 MM
BCR AML, CML, B-lymphoblastic leukaemia/lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1 Imatinib, Dasatinib, Nilotinib, Bosutinib, Ponatinib, Sorafenib, PF114, Homoharringtonine
BCORL1 MDS/AA
BCOR AML, MDS, T-PLL
BCL6 DLBCL, FL, HGBL, LBCL with IRF4-r, MCL, NLPHL, PCNSL, PMBL, PTLD
BCL3 CLL/SLL
BCL2L11 BIM CML
BCL2 FL, DLBCL, CLL/SLL, HGBL, MCL, PCNSL Venetoclax
BCL11A PMBL
BCL10 MALT
B2M CHL, DLBCL
ATXN1 ATLL
ATRX MDS/AA
ATP6V1B2 FL
ATP6AP1 FL
ATM CHIP, CLL/SLL, MCL, NHL, T-PLL
ATG2B Familial MPN
ASXL3 ENKTL
ASXL2 CHIP
ASXL1 AML, MDS, MPAL, MPN, CHIP, CML, CMML
ARID5B B-ALL
ARID2 ATLL
ARID1B HSTL
ARID1A BL, ENKTL, FL, SS, WM/LPL
ANKRD26 Myeloid neoplsms with germline predisposition
ALK AML, JMML, ALCL (ALK+), C-ALCL, LBCL (ALK+) Crizotinib, Ceritinib, Alectinib, Brigatinib, Lorlatinib, Entrectinib
AKT3 NHL AZD5363, MK2206, Ipatasertib, AT13148, GSK2110183, GSK2141795, ARQ-092, GDC-0068
AKT2 NHL AZD5363, MK2206, Ipatasertib, AT13148, GSK2110183, GSK2141795, ARQ-092, GDC-0068
AKT1 NHL AZD5363, MK2206, Ipatasertib, AT13148, GSK2110183, GSK2141795, ARQ-092, GDC-0068
AFF1 AF4 B-lymphoblastic leukaemia/lymphoma with t(v;11q23.3); KMT2A rearranged
ABL2 B-lymphoblastic leukaemia/lymphoma, BCR-ABL1-like
ABL1 AML with BCR-ABL1, CML, B-lymphoblastic leukaemia/lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1, B-lymphoblastic leukaemia/lymphoma, BCR-ABL1-like Imatinib, Dasatinib, Nilotinib, Bosutinib, Ponatinib, Sorafenib, PF114, Homoharringtonine
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