Translocations et al. in Hematological Cancers

Acknowledgement

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

Translocations Long List

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
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-AFF1
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	KMT2A-MLLT4
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	KMT2A-MLLT3
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-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-ELL
t(11;19)(q23;p13.3)	B-ALL,AML,T-ALL	KMT2A-MLLT1
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	IGH-BCL3
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