Difference between revisions of "Translocations et al. in Hematological Cancers"
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+ | ==Acknowledgement== | ||
+ | This list is based on the [http://www.mayomedicallaboratories.com/articles/features/hem-cyto/index.html '''Mayo Clinic Hematologic Cytogenetics Reference Sheet, November 2012''']. | ||
+ | |||
__TOC__ | __TOC__ | ||
Line 15: | Line 18: | ||
|- | |- | ||
|[[Translocation t(1;3)(p36;q21)|t(1;3)(p36;q21)]] | |[[Translocation t(1;3)(p36;q21)|t(1;3)(p36;q21)]] | ||
− | |[[MDS]],[[ AML]] | + | |[[MDS]],[[AML]] |
|[[PRDM16(MEL1)-RPN1]] | |[[PRDM16(MEL1)-RPN1]] | ||
|- | |- | ||
− | |[[t(1;3;5)(p36;p21;q33) ]] | + | |[[t(1;3;5)(p36;p21;q33)]] |
|[[CEL]] | |[[CEL]] | ||
|[[WDR48-PDGFRB]] | |[[WDR48-PDGFRB]] | ||
Line 27: | Line 30: | ||
|- | |- | ||
|[[t(1;5)(q22;q33)]] | |[[t(1;5)(q22;q33)]] | ||
− | |[[MPD | + | |[[MPD]],[[ CEL]],[[ B-ALL]] |
|[[PDE4DIP-PDGFRB]] | |[[PDE4DIP-PDGFRB]] | ||
|- | |- | ||
|[[der(1;7)(q10;p10)]] | |[[der(1;7)(q10;p10)]] | ||
− | |[[MDS]],[[ AML]],[[ MPD]] | + | |[[MDS]],[[AML]],[[ MPD]] |
| | | | ||
|- | |- | ||
|[[t(1;8)(p13;q24.1)]] | |[[t(1;8)(p13;q24.1)]] | ||
| | | | ||
− | |[[MYC | + | |[[MYC]] |
|- | |- | ||
|[[t(1;14)(q21;q32)]] | |[[t(1;14)(q21;q32)]] | ||
− | |[[B-ALL]],[[ NHL]] | + | |[[B-ALL]],[[NHL]] |
− | |[[BCL9 | + | |[[IGH-BCL9]],[[IGH-FCGR2B]],[[IGH-FCRL4]],[[IGH-MUC1]] |
|- | |- | ||
|[[t(1;19)(q23;p13.3) ]] | |[[t(1;19)(q23;p13.3) ]] | ||
|[[B-ALL]] | |[[B-ALL]] | ||
− | |[[ | + | |[[TCF3(E2A)-PBX1]] |
|- | |- | ||
|[[Translocation der(16)t(1;16)(q21;q11.2)|der(16)t(1;16)(q21;q11.2)]] | |[[Translocation der(16)t(1;16)(q21;q11.2)|der(16)t(1;16)(q21;q11.2)]] | ||
Line 55: | Line 58: | ||
|- | |- | ||
|[[t(2;5)(p23;q35)]] | |[[t(2;5)(p23;q35)]] | ||
− | |[[ALCL]],[[ NHL]] | + | |[[ALCL]],[[NHL]] |
|[[NPM1-ALK]] | |[[NPM1-ALK]] | ||
|- | |- | ||
|[[t(2;8)(p12;q24.1)]] | |[[t(2;8)(p12;q24.1)]] | ||
− | |[[BL]],[[ B-ALL]],[[ NHL ]] | + | |[[BL]],[[ B-ALL]],[[NHL]] |
− | |[[MYC | + | |[[MYC]] |
|- | |- | ||
|[[t(2;11)(p21;q23)]] | |[[t(2;11)(p21;q23)]] | ||
|[[MDS]],[[AML]],[[B-ALL]] | |[[MDS]],[[AML]],[[B-ALL]] | ||
− | |[[ | + | |[[KMT2A]] |
|- | |- | ||
|[[t(2;14)(p15;q32)]] | |[[t(2;14)(p15;q32)]] | ||
− | |[[CLL]],[[ NHL]],[[ B-ALL]],[[ T-ALL]],[[ AML]] | + | |[[CLL]],[[ NHL]],[[ B-ALL]],[[ T-ALL]],[[AML]] |
| | | | ||
|- | |- | ||
− | |[[t(3;3)(q21;q26.2) ]] | + | |[[Translocation t(3;3)(q21;q26.2) and Inversion inv(3)(q21q26.2)|t(3;3)(q21;q26.2)]] |
− | |[[MDS]],[[ AML]] | + | |[[MDS]],[[AML]] |
|[[RPN1-MECOM(EVI1)]] | |[[RPN1-MECOM(EVI1)]] | ||
|- | |- | ||
Line 84: | Line 87: | ||
|[[t(4;11)(q21;q23)]] | |[[t(4;11)(q21;q23)]] | ||
|[[B-ALL]],[[ T-ALL]] | |[[B-ALL]],[[ T-ALL]] | ||
− | |[[KMT2A | + | |[[KMT2A-AFF1]] |
|- | |- | ||
|[[t(4;14)(p16.3;q32)]] | |[[t(4;14)(p16.3;q32)]] | ||
Line 95: | Line 98: | ||
|- | |- | ||
|[[t(4;5;5)(q23;q31;q33)]] | |[[t(4;5;5)(q23;q31;q33)]] | ||
− | |[[ | + | |[[Chronic Basophilic Leukemia]] |
|[[PRKG2-PDGFRB]] | |[[PRKG2-PDGFRB]] | ||
|- | |- | ||
Line 111: | Line 114: | ||
|- | |- | ||
|[[t(5;12)(q33;q24)]] | |[[t(5;12)(q33;q24)]] | ||
− | |[[MPD | + | |[[MPD]] |
|[[GIT2-PDGFRB]] | |[[GIT2-PDGFRB]] | ||
|- | |- | ||
|[[t(5;12)(q33;p13)]] | |[[t(5;12)(q33;p13)]] | ||
− | |[[CMML]],[[ MDS]],[[ MPD]] | + | |[[CMML]],[[MDS]],[[MPD]] |
|[[ETV6(TEL)-PDGFRB]] | |[[ETV6(TEL)-PDGFRB]] | ||
|- | |- | ||
|[[t(5;14)(q33;q24)]] | |[[t(5;14)(q33;q24)]] | ||
− | |[[MPD]],[[ | + | |[[MPD]],[[MPD]] |
|[[NIN-PDGFRB]] | |[[NIN-PDGFRB]] | ||
|- | |- | ||
Line 125: | Line 128: | ||
| | | | ||
|[[CCDC88C(KIAA1509)-PDGFRB]] | |[[CCDC88C(KIAA1509)-PDGFRB]] | ||
− | |||
|- | |- | ||
|[[t(5;15)(q33;q22)]] | |[[t(5;15)(q33;q22)]] | ||
− | |[[CMML | + | |[[CMML]],[[MPD]] |
|[[TP53BP1-PDGFRB]] | |[[TP53BP1-PDGFRB]] | ||
|- | |- | ||
Line 140: | Line 142: | ||
|- | |- | ||
|[[der(5;17)(p10;q10)]] | |[[der(5;17)(p10;q10)]] | ||
− | |[[MDS]],[[ AML]] | + | |[[MDS]],[[AML]] |
|[[NPM1(NPM)-RARA]] | |[[NPM1(NPM)-RARA]] | ||
|- | |- | ||
Line 148: | Line 150: | ||
|- | |- | ||
|[[t(5;17)(q33;p13)]] | |[[t(5;17)(q33;p13)]] | ||
− | |[[CMML]],[[ | + | |[[CMML]],[[MPD]] |
|[[RABEP1-PDGFRB ]] | |[[RABEP1-PDGFRB ]] | ||
|- | |- | ||
|[[der(6)t(1;6)(q21;p21.3)]] | |[[der(6)t(1;6)(q21;p21.3)]] | ||
|[[PMF]] | |[[PMF]] | ||
+ | | | ||
|- | |- | ||
|[[t(6;9)(p23;q34) ]] | |[[t(6;9)(p23;q34) ]] | ||
− | |[[MDS]],[[ AML]] | + | |[[MDS]],[[AML]] |
|[[DEK-NUP214 (CAN)]] | |[[DEK-NUP214 (CAN)]] | ||
|- | |- | ||
|[[t(6;11)(q27;q23) ]] | |[[t(6;11)(q27;q23) ]] | ||
− | |[[AML]],[[ t-AML]],[[ T-ALL]] | + | |[[AML]],[[ t-AML]],[[T-ALL]] |
− | |[[MLLT4 | + | |[[KMT2A-MLLT4]] |
|- | |- | ||
|[[t(7;11)(p15;p15)]] | |[[t(7;11)(p15;p15)]] | ||
Line 168: | Line 171: | ||
|[[t(8;14)(q24.1;q32) ]] | |[[t(8;14)(q24.1;q32) ]] | ||
|[[BL]],[[ B-ALL]],[[ NHL]] | |[[BL]],[[ B-ALL]],[[ NHL]] | ||
− | |[[ | + | |[[IGH-MYC]] |
|- | |- | ||
− | |[[t(8;16)(p11.2;p13.3) | + | |[[t(8;16)(p11.2;p13.3)]] |
− | |[[AML | + | |[[AML]],[[t-MDS]] |
|[[KAT6A(MYST3)-CREBBP(CBP)]] | |[[KAT6A(MYST3)-CREBBP(CBP)]] | ||
|- | |- | ||
|[[t(8;21)(q22;q22) A ]] | |[[t(8;21)(q22;q22) A ]] | ||
− | |[[AML | + | |[[AML]] |
|[[RUNX1(AML)-RUNX1T1(ETO)]] | |[[RUNX1(AML)-RUNX1T1(ETO)]] | ||
|- | |- | ||
|[[t(8;22)(q24.1;q11.2) ]] | |[[t(8;22)(q24.1;q11.2) ]] | ||
− | |[[BL]],[[ B-ALL]],[[ NHL]],[[ MM]] | + | |[[BL]],[[ B-ALL]],[[NHL]],[[ MM]] |
− | |[[ | + | |[[IGL-MYC]] |
|- | |- | ||
|[[add(9)(p24)]] | |[[add(9)(p24)]] | ||
+ | | | ||
|[[JAK2]] | |[[JAK2]] | ||
|- | |- | ||
|[[t(9;11)(p22;q23)]] | |[[t(9;11)(p22;q23)]] | ||
− | |[[AML | + | |[[AML]],[[B-ALL]] |
− | |[[MLLT3 | + | |[[KMT2A-MLLT3]] |
|- | |- | ||
|[[t(9;14)(p13;q32)]] | |[[t(9;14)(p13;q32)]] | ||
− | |[[MM]],[[ CLL]],[[ DLBCL]],[[ FL]],[[ MCL splenic MZL]] | + | |[[MM]],[[CLL]],[[DLBCL]],[[FL]],[[MCL splenic MZL]] |
|[[PAX5-IGH]] | |[[PAX5-IGH]] | ||
|- | |- | ||
− | |[[t(9;22)(q34;q11.2) | + | |[[t(9;22)(q34;q11.2)]] |
− | |[[CML]],[[ B-ALL]],[[ | + | |[[CML]],[[ B-ALL]],[[T-ALL]] |
|[[ABL1(ABL)-BCR]] | |[[ABL1(ABL)-BCR]] | ||
|- | |- | ||
− | |[[t(11;14)(q13;q32) | + | |[[t(11;14)(q13;q32)]] |
|[[MCL]],[[ MM]] | |[[MCL]],[[ MM]] | ||
− | |[[CCND1 | + | |[[IGH-CCND1]] |
|- | |- | ||
|[[t(11;14)(q23;q32)]] | |[[t(11;14)(q23;q32)]] | ||
− | |[[ | + | |[[AML]] |
− | |[[ | + | |[[KMT2A-KIAA0284]] |
|- | |- | ||
|[[t(11;16)(q23;p13.3)]] | |[[t(11;16)(q23;p13.3)]] | ||
Line 217: | Line 221: | ||
|[[BIRC3(API2)-MALT1]] | |[[BIRC3(API2)-MALT1]] | ||
|- | |- | ||
− | |[[t(11;19)(q23;p13.1) ]] | + | |[[t(11;19)(q23;p13.1)]] |
|[[AML]] | |[[AML]] | ||
− | |[[ | + | |[[KMT2A-ELL]] |
|- | |- | ||
− | |[[t(11;19)(q23;p13.3) ]] | + | |[[t(11;19)(q23;p13.3)]] |
− | |[[B-ALL]],[[ AML]],[[ T-ALL]] | + | |[[B-ALL]],[[AML]],[[T-ALL]] |
− | |[[ | + | |[[KMT2A-MLLT1]] |
|- | |- | ||
|[[t(14;16)(q32;q23)]] | |[[t(14;16)(q32;q23)]] | ||
Line 229: | Line 233: | ||
|[[IGH-MAF]] | |[[IGH-MAF]] | ||
|- | |- | ||
− | |[[t(14;18)(q32;q21) ]] | + | |[[t(14;18)(q32;q21)]] |
− | |[[BL]],[[ DLBCL]],[[ FL]],[[ CLL]] | + | |[[BL]],[[DLBCL]],[[FL]],[[CLL]] |
|[[IGH-BCL2]] | |[[IGH-BCL2]] | ||
|- | |- | ||
|[[t(14;19)(q32;q13.3)]] | |[[t(14;19)(q32;q13.3)]] | ||
− | |[[CLL]],[[ DLBCL]],[[ MCL]],[[ MZL]],[[ SLVL]] | + | |[[CLL]],[[DLBCL]],[[MCL]],[[MZL]],[[SLVL]] |
+ | |[[IGH-BCL3]] | ||
|- | |- | ||
|[[t(14;19)(q32;q13)]] | |[[t(14;19)(q32;q13)]] | ||
Line 258: | Line 263: | ||
|[[der(Y)t(Y;1)(q12;q12) ]] | |[[der(Y)t(Y;1)(q12;q12) ]] | ||
|[[MDS]] | |[[MDS]] | ||
− | + | | | |
|} | |} | ||
Line 270: | Line 275: | ||
|'''GENES''' | |'''GENES''' | ||
|- | |- | ||
− | |[[inv(3)(q21q26.2) ]] | + | |[[Translocation t(3;3)(q21;q26.2) and Inversion inv(3)(q21q26.2)|inv(3)(q21q26.2)]] |
|[[MDS]],[[ AML]] | |[[MDS]],[[ AML]] | ||
|[[RPN1-MECOM(EVI1)]] | |[[RPN1-MECOM(EVI1)]] | ||
Line 284: | Line 289: | ||
|[[inv(16)(p13.1q22)]] | |[[inv(16)(p13.1q22)]] | ||
|[[AML M4Eo]] | |[[AML M4Eo]] | ||
− | |[[MYH11 | + | |[[MYH11-CBFB]] |
|} | |} | ||
Line 351: | Line 356: | ||
|- | |- | ||
|[[i(11)(q10) ]] | |[[i(11)(q10) ]] | ||
− | |[[AML | + | |[[AML]],[[AML]],[[ MDS]] |
| | | | ||
|- | |- | ||
|[[i(17)(q10)]] | |[[i(17)(q10)]] | ||
− | |[[MDS]],[[ MPD]],[[ AML]],[[ CML]],[[ B-ALL]],[[ CLL]],[[ Hodgkin and NHL]] | + | |[[MDS]],[[ MPD]],[[ AML]],[[ CML]],[[ B-ALL]],[[CLL]],[[ Hodgkin and NHL]] |
| | | | ||
|- | |- | ||
|[[i(21)(q10)]] | |[[i(21)(q10)]] | ||
− | |[[B-ALL]],[[ MDS]],[[ NHL]],[[ AML]],[[ CMML]] | + | |[[B-ALL]],[[ MDS]],[[ NHL]],[[AML]],[[ CMML]] |
| | | | ||
|- | |- | ||
|[[idic(X)(q13)]] | |[[idic(X)(q13)]] | ||
− | |[[AML | + | |[[AML]],[[MDS]],[[RARS]] |
|[[XIST]] | |[[XIST]] | ||
|} | |} | ||
Line 382: | Line 387: | ||
|[[t(X;14) and t(Y;14)]] | |[[t(X;14) and t(Y;14)]] | ||
|[[B-ALL]] | |[[B-ALL]] | ||
− | |[[IGH-CRLF2]] | + | |[[T(X;14) and t(Y;14)|IGH-CRLF2]] |
|- | |- | ||
|[[t(5;14)(q35;q32)]] | |[[t(5;14)(q35;q32)]] | ||
Line 389: | Line 394: | ||
|- | |- | ||
|[[del(1)(p32p32)]] | |[[del(1)(p32p32)]] | ||
− | |[[ | + | |[[T-ALL]] |
− | |[[TAL1 | + | |[[SIL(STIL)-TAL1]] |
|} | |} | ||
Line 578: | Line 583: | ||
| | | | ||
|- | |- | ||
− | |[[del(20)(q11.2q13.1) | + | |[[del(20)(q11.2q13.1)]] |
+ | | | ||
+ | | | ||
+ | |- | ||
|[[del(20)(q11.2q13.3)]] | |[[del(20)(q11.2q13.3)]] | ||
|[[AML]],[[MDS]],[[MPD]] | |[[AML]],[[MDS]],[[MPD]] | ||
+ | | | ||
|- | |- | ||
|[[ider(20)(p11.1)del(20)(q11.2q13.3)]] | |[[ider(20)(p11.1)del(20)(q11.2q13.3)]] | ||
Line 627: | Line 636: | ||
|- | |- | ||
|[[+15]] | |[[+15]] | ||
− | |Age | + | |[[Age Related]] when sole anomaly or with [[-Y]] |
|- | |- | ||
|[[+19]] | |[[+19]] | ||
Line 642: | Line 651: | ||
|- | |- | ||
|[[-Y ]] | |[[-Y ]] | ||
− | | | + | |[[Age Related]] when sole anomaly |
|} | |} | ||
Line 711: | Line 720: | ||
|[[LMO2(Rhom2)-TRA]] | |[[LMO2(Rhom2)-TRA]] | ||
|} | |} | ||
− | |||
− | |||
− |
Latest revision as of 11:45, 26 August 2016
Acknowledgement
This list is based on the Mayo Clinic Hematologic Cytogenetics Reference Sheet, November 2012.
Translocations
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
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
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,AML,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,MDS,RARS | XIST |
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
Numerical Abnormalities
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 |