In 2006,the Adelaide laboratory (the Mannheim in Europe) initiated a process to develop and validate laboratory-specific conversion factors (CFs) to convert local values to IS values
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MYB-GATA1 NPM1-ALK NPM1-TYK2 NUP98-KDM5A NUP98-NSD1 PICALM-MLLT10 RBM15-MKL1 RUNX1-RUNX1T1 STIL-TAL1 TCF3-HLF TCF3-PBX1 TPM3-ALK
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ABL2 translocations
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Blood. 2012; 120(4):737-47
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8-16 primers multiples PCR
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Multiplex Nested PCR Method Version 2.6
BCL6 translocations
CD274 translocations
CRLF2-rearrangements
CSF1R translocations
EPOR translocations
FGFR1-rearrangement
IGH-translocations
JAK2 translocations
Current Genomics, 2017, 18, 378-384
BCR e8
PRDM12 Exon4 112bp
ABL1 a2
PML-RARA
Z
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TEL-AML1
CBFB-MYH11
E2A-PBX1 TLS-ERG SIL-TAL1 DEK-CAN others
MLL AML1-ETO
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KMT2A-translocated MYC translocations NTRK3 translocations PDCD1LG2 translocations PDGFRA-rearrangement PDGFRB-rearrangement RARA-rearrangment TBL1XR1 translocations TYK2 translocations
u V2.5 W 1. 'Sd-g _ HOX11 %]1.2" RPN1-EVI1 m)1. 2. /d g2" ZNF198-FGFR1 m)1._NR
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3.AML1-MDS1(2) 7.DEK-CAN(1) 11.MLL-AF10(18) 15.MLL-AF4(12) 19.MLL-ELL(8) 23.NPM-MLF1(1) 27.PLZF-RARA(2) 31.SIL-TAL1(1) 35.TLS-ERG(5)
4.BCR-ABL1(6) 8.E2A-HLF(3) 12.MLL-AF17(1) 16.MLL-AF6(4) 20.MLL-ENL(4) 24.NPM-RARA(2) 28.PML-RARA(5) 32.TEL-ABL1(2) 36.ZNF198-FGFR1(1)
23B 12
In 2003, IRIS trial established standardized baseline and MMR value
In 2005, the CML meeting in Bethesda proposed an international scale (IS), with the IRIS standardized baseline defined as 100% IS , and MMR defined as 0.1% IS
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2.AML1-ETO(1) 6.CBFB-MYH11(8) 10.FIP1L1-PDGFRA(5) 14.MLL-AF1q(4) 18.MLL-AFX(4) 22.NPM-ALK(1) 26.NUP98-HOXD13(1) 30.SET-CAN(1) 34.TEL-PDGFRB(1) 2. ERG del(2)
BCR-ABL1
.-
MLL-AF9
MLL-AF10
dupMLL
MLL-AF6
MLL-AF4
MLL-ELL MLL-ENL MLL-AF1q MLL-AF1p
Haematologica 2016 101: 541-558
Distinct characteristics of e13a2 versus e14a2 BCR-ABL1 drivenchronic myeloid leukemia under first-line therapy with imatinib. Haematologica 2014 99: 1441-7
In 2009, the WHO developed accredited primary reference reagents for calibration of secondary reference reagents
In 2011, Secondary reference reagents calibrated to the primary make materials the IS more accessible
WHO2016
PDGFRB
2017 1Atlas of Genetics and Cytogenetics in Oncology and Haematology5
KMT2A.MLL
197
WHO2016: B-ALL, BCR-ABL1-like
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