Translocations et al. in Hematological Cancers

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(C-MYC)
t(1;14)(q21;q32)	B-ALL,NHL	BCL9-IGH,FCGR2B-IGH,FCRL4-IGH,MUC1/IGH
t(1;19)(q23;p13.3)	B-ALL	PBX1-TCF3(E2A)
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(C-MYC)
t(2;11)(p21;q23)	MDS,AML,B-ALL	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)-MLL
t(7;11)(p15;p15)	AML	NUP98-HOXA9
t(8;14)(q24.1;q32)	BL,B-ALL,NHL	MYC(C-MYC)- IGH
t(8;16)(p11.2;p13.3) A	AML M4,M5a,M5b,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	MYC(C-MYC)-IGL(IGL)
add(9)(p24)		JAK2
t(9;11)(p22;q23)	AML mostly M5,M4,B-ALL	MLLT3(AF9)-MLL
t(9;14)(p13;q32)	MM,CLL,DLBCL,FL,MCL splenic MZL	PAX5-IGH
t(9;22)(q34;q11.2) A B	CML,B-ALL,T-ALL	ABL1(ABL)-BCR
t(11;14)(q13;q32) A	MCL,MM	CCND1(BCL1)- IGH
t(11;14)(q23;q32)	t-AML	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	MLL-ELL
t(11;19)(q23;p13.3)	B-ALL,AML,T-ALL	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)	B-ALL	TAL1-STIL

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