Difference between revisions of "Translocations et al. in Hematological Cancers"

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Revision as of 19:13, 15 March 2016

Translocations

Translocations
ANOMALY ASSOCIATED DISORDERS with FISH test GENES
der(1)t(1;1)(p36;q21) NHL
t(1;3)(p36;q21) MDS,AML PRDM16(MEL1)-RPN1
t(1;3;5)(p36;p21;q33) CEL WDR48-PDGFRB
t(1;5)(q21;q33) MPD TPM3-PDGFRB 
t(1;5)(q22;q33) MPD with eosinophilia,CEL,B-ALL PDE4DIP-PDGFRB
der(1;7)(q10;p10) MDS,AML,MPD
t(1;8)(p13;q24.1) MYC
t(1;14)(q21;q32) B-ALL,NHL IGH-BCL9,IGH-FCGR2B,IGH-FCRL4,IGH-MUC1
t(1;19)(q23;p13.3) B-ALL TCF3(E2A)-PBX1
der(16)t(1;16)(q21;q11.2)
der(1;22)(q10;p10)
t(2;5)(p23;q35) ALCL,NHL NPM1-ALK
t(2;8)(p12;q24.1) BL,B-ALL,NHL MYC
t(2;11)(p21;q23) MDS,AML,B-ALL KMT2A(MLL)
t(2;14)(p15;q32) CLL,NHL,B-ALL,T-ALL,AML
t(3;3)(q21;q26.2) MDS,AML RPN1-MECOM(EVI1)
t(3;5)(p21-25;q32-35) MPD GOLGA4-PDGFRB
t(3;21)(q26.2;q22) t-AML,t-MDS RPL22(EAP)-RUNX1(AML1)
t(4;11)(q21;q23) B-ALL,T-ALL KMT2A(MLL)-AFF1(AF4)
t(4;14)(p16.3;q32) MM IGH-FGFR3
t(4;22)(q12;q11) atypical MPD BCR-PDGFRA
t(4;5;5)(q23;q31;q33) chronic basophilic leukemia PRKG2-PDGFRB
t(5;7)(q33;q11.2) CMML HIP1-PDGFRB
t(5;10)(q33;q21) atypical MPD CCD6-PDGFRB
t(5;12)(q31;p13) CEL,MPD ETV6(TEL)-ACSL6
t(5;12)(q33;q24) MPD with eosinophilia   GIT2-PDGFRB
t(5;12)(q33;p13) CMML,MDS,MPD ETV6(TEL)-PDGFRB
t(5;14)(q33;q24) MPD,atypical MPD NIN-PDGFRB
t(5;14)(q33;q32) CCDC88C(KIAA1509)-PDGFRB
t(5;15)(q33;q22) CMML atypical MPD TP53BP1-PDGFRB
t(5;14)(q35;q32) T-cell lymphoma TLX3(HOX11L2)-BCL11B
t(5;16)(q33;q22) AML CBFB
der(5;17)(p10;q10) MDS,AML NPM1(NPM)-RARA
t(5;17)(q33;p11.2) JMML SPECC1-PDGFRB
t(5;17)(q33;p13) CMML,atypical MPD RABEP1-PDGFRB 
der(6)t(1;6)(q21;p21.3) PMF
t(6;9)(p23;q34) MDS,AML DEK-NUP214 (CAN)
t(6;11)(q27;q23) AML,t-AML,T-ALL MLLT4(AF6)-KMT2A(MLL)
t(7;11)(p15;p15) AML NUP98-HOXA9
t(8;14)(q24.1;q32) BL,B-ALL,NHL IGH-MYC
t(8;16)(p11.2;p13.3) A AML,t-MDS KAT6A(MYST3)-CREBBP(CBP)
t(8;21)(q22;q22) A AML M2 mostly,rarely M1,M4 RUNX1(AML)-RUNX1T1(ETO)
t(8;22)(q24.1;q11.2) BL,B-ALL,NHL,MM IGL-MYC
add(9)(p24) JAK2
t(9;11)(p22;q23) AML,B-ALL MLLT3(AF9)-KMT2A(MLL)
t(9;14)(p13;q32) MM,CLL,DLBCL,FL,MCL splenic MZL PAX5-IGH
t(9;22)(q34;q11.2) CML,B-ALL,T-ALL ABL1(ABL)-BCR
t(11;14)(q13;q32) MCL,MM CCND1(BCL1)- IGH
t(11;14)(q23;q32) t-AML KMT2A(MLL)-KIAA0284
t(11;16)(q23;p13.3) t-MDS,t-AML MLL-CREBBP(CBP)
t(11;17)(q23;q21) APL ZBTB16(PLZF)-RARA
t(11;18)(q21;q21) MALT BIRC3(API2)-MALT1
t(11;19)(q23;p13.1) AML KMT2A(MLL)-ELL
t(11;19)(q23;p13.3) B-ALL,AML,T-ALL KMT2A(MLL)-MLLT1(ENL)
t(14;16)(q32;q23) MM IGH-MAF
t(14;18)(q32;q21) BL,DLBCL,FL,CLL IGH-BCL2
t(14;19)(q32;q13.3) CLL,DLBCL,MCL,MZL,SLVL
t(14;19)(q32;q13) B-ALL IGH-EPOR
t(14;22)(q32;q11.2) B-ALL,CLL,HCL,AML,NHL,DLBCL IGH-IGL
t(15;17)(q24;q21) APL PML-RARA
t(16;16)(p13.1;q22) AML M4Eo MYH11-CBFB
der(19)t(1;19)(q23;p13.3) B-ALL,L3-like ALL,T-ALL,NHL,AML PBX1-TCF3(E2A)
der(Y)t(Y;1)(q12;q12) MDS

Inversions

INVERSIONS
ANOMALY ASSOCIATED DISORDERS with FISH test GENES
inv(3)(q21q26.2) MDS,AML RPN1-MECOM(EVI1)
inv(11)(q21q23) MDS,AML M2,T-ALL MAML2-MLL
inv(14)(q11.2q32) PLL TRA-TCL1A(TCL1)
inv(16)(p13.1q22) AML M4Eo MYH11-CBFB

Duplications

DUPLICATIONS
ANOMALY ASSOCIATED DISORDERS with FISH test GENES
dup(1)(q11q44)
dup(1)(q21q32) B-ALL,NHL
dup(1)(q21q42)
dup(1)(q23q32)
dup(1)(q23q42) NHL
dup(11)(q13q25) NHL MLL
dup(12)(q13q22)

Isochromsomes

ISOCHROMOSOMES
ANOMALY ASSOCIATED DISORDERS with FISH test GENES
i(1)(q10) NHL
i(3)(q10) NHL
i(7)(q10) T-cell lymphoma
i(8)(q10) T-ALL,AML,B-ALL
i(11)(q10) AML M2,AML M4,MDS
i(17)(q10) MDS,MPD,AML,CML,B-ALL,CLL,Hodgkin and NHL
i(21)(q10) B-ALL,MDS,NHL,AML,CMML
idic(X)(q13) AML M1,M2,M4,MDS,RARS XIST

Cryptic

CRYPTIC
ANOMALY ASSOCIATED DISORDERS with FISH test GENES
t(12;21)(p13;q22) B-ALL ETV6 (TEL)-RUNX1(AML1)
t(X;14) and t(Y;14) B-ALL IGH-CRLF2
t(5;14)(q35;q32) T-ALL TLX3-BCL11B
del(1)(p32p32) T-ALL SIL(STIL)-TAL1

Deletions

DELETIONS
ANOMALY ASSOCIATED DISORDERS with FISH test GENES
del(1)(p32p36) NHL,MM
del(1)(p32-34p36.1)
del(1)(p36.1) Neuroblastoma TP73(P73)
del(3)(p13p21)
del(3)(q21) B-ALL,AML,NHL
del(5)(q13q33) AML,MDS,MPD  PDGFRB
del(5)(q15q33) AML,MDS,MPD  PDGFRB 
del(5)(q22q35) AML,MDS,MPD  PDGFRB 
del(5)(q31q35) AML,MDS,MPD  PDGFRB 
del(6)(q13q21) WM/LPL,MM,NK lymphoma,DLBCL BLMP1-PRDM1
del(6)(q13q23) CLL,atypical CLL,FL,MCL,T-NHL,childhood B-ALL,childhood T-ALL,adult ALL,MM
del(6)(q15q21)
del(6)(q21) CLL,atypical CLL,AML,childhood B-ALL,childhood T-ALL,adult ALL,MM
del(7)(p15)
del(7)(p13) AML,NHL
del(7)(p13p15)
del(7)(p11.2) B-ALL,AML,MDS
del(7)(q11.2) B-ALL,AML,MDS
del(7)(q22q34) AML,MDS,NHL
del(7)(q32q34) AML,MDS,NHL
del(7)(q32) AML,MDS,NHL
del(8)(p21)
del(8)(q22)
del(9)(p13) B-ALL,NHL,pediatric B-ALL
del(9)(p13p22) B-ALL
del(9)(p21) B-ALL,AML,NHL
del(9)(p22) B-ALL
del(9)(q13) AML M1,M2,M4,M6
del(9)(q13q22) AML,MDS
del(10)(q24)
del(11)(p11.2) NHL
del(11)(p12p13) B-ALL LMO2
del(11)(q13)
del(11)(q13q21)
del(11)(q13q23) AML,CLL,MDS,NHL ATM
del(11)(q21q23) AML MLL
del(11)(q23) AML,B-ALL,CLL,MDS,NHL MLL
add(12)(p)/ del(12)(p11.2p13) AML,MDS,B-ALL ETV6(TEL)
del(13)(q12q14) AML,AMM,MDS,NHL
del(13)(q12q22) AML,PMF,CLL,MM,MDS,NHL
del(14)(q24) NHL
del(16)(q22) AML,AML-M4Eo,NHL
del(17)(p11.2) B-ALL,AML,CLL,MDS,NHL TP53(P53)
del(18)(q21) AML,NHL
[[del(20)(q11.2q13.1) del(20)(q11.2q13.3) AML,MDS,MPD
ider(20)(p11.1)del(20)(q11.2q13.3) AML,MDS,MPD
del(X)(q24) NHL

Numerical Abnormalities

NUMERICAL
ANOMALY ASSOCIATED DISORDERS with FISH test
+3 SLVL,T-cell lymphoma,MZL,MCL,MALT
+4 AML M1-M2 and M4,and treatment related AML
+8 B-ALL,AML,MPD,MDS,PV
+9 AML,MDS,MPD,PV,B-ALL,T-ALL
+10 AML,B-ALL,MDS
+11 AML M1,M2,M4,MDS
+12 AML,CLL,NHL,MALT,HCL,SLVL,WM/LPL,FL,MCL and DLBCL
+13/+13,+13 AML-M0
+14 MDS RA,RAEB±T mainly,AML M1,M2,M4,atypical MPD
+15 Age related when sole anomaly or with -Y
+19 AML,MDS
+21 AML,B-ALL,MDS,MPD
+22 AML-M4eo
-7 MDS,RAEB/RAEB±T,CMML,J-CML,AML most often M4 or M6.
-Y age related when sole anomaly

Primarily Pediatric

PEDIATRIC
ANOMALY ASSOCIATED DISORDERS with FISH test GENES
t(1;19)(q23;p13.3) B-ALL PBX1-TCF3(E2A)
der(19)t(1;19)(q23;p13.3) B-ALL PBX1-TCF3(E2A)
t(8;14)(q11;q32) B-ALL IGH-CEBPB
i(9)(q10)/idic(9)(q10) B-ALL
dic(9;12)(p11;p11.2) B-ALL
dic(9;20)(p11;q11) B-ALL PAX5
t(17;19)(q22;p13) B-ALL TCF3(E2A)-HLF
t(1;22)(p13;q13) AML M7 RBM15-MKL1
t(10;11)(p13;q23) Primarily AML ,uncommonly B-ALL MLLT10(AF10)/MLL
t(16;21)(p11.2;q22) AML FUS-ERG
t(16;21)(q24;q22) AML CBFA2T3-RUNX1-(AML1)
t(10;11)(p13;q14) T-ALL MLLT10(AF10)/PICALM 
t(11;14)(p15;q11.2) T-ALL LMO1-TRA
t(11;14)(p13;q11-q11.2) T-ALL LMO2(Rhom2)-TRA

Acknowledgements

This list is based on the Mayo clinic Hematologic Cytogenetics Reference Sheet, November 2012

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