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 10: Line 13:
 
|'''GENES'''
 
|'''GENES'''
 
|-
 
|-
−
|[[der(1)t(1;1)(p36;q21)]]
+
|[[Translocation der(1)t(1;1)(p36;q21)|der(1)t(1;1)(p36;q21)]]
 
|[[NHL]]
 
|[[NHL]]
 +
|
 
|-
 
|-
−
|[[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 26: Line 30:
 
|-
 
|-
 
|[[t(1;5)(q22;q33)]]
 
|[[t(1;5)(q22;q33)]]
−
|[[MPD with eosinophilia]],[[ CEL]],[[ B-ALL]]
+
|[[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)]]  
−
|Missing
+
|
−
| [[MYC(C-MYC)]]
+
|[[MYC]]
 
|-
 
|-
 
|[[t(1;14)(q21;q32)]]
 
|[[t(1;14)(q21;q32)]]
−
|[[B-ALL]],[[ NHL]]
+
|[[B-ALL]],[[NHL]]
−
|[[BCL9-IGH]],[[ FCGR2B-IGH]],[[ FCRL4-IGH]],[[ MUC1/IGH]]
+
|[[IGH-BCL9]],[[IGH-FCGR2B]],[[IGH-FCRL4]],[[IGH-MUC1]]
 
|-
 
|-
 
|[[t(1;19)(q23;p13.3) ]]
 
|[[t(1;19)(q23;p13.3) ]]
 
|[[B-ALL]]
 
|[[B-ALL]]
−
|[[PBX1-TCF3(E2A)]]
+
|[[TCF3(E2A)-PBX1]]
 +
|-
 +
|[[Translocation der(16)t(1;16)(q21;q11.2)|der(16)t(1;16)(q21;q11.2)]]
 +
|
 +
|
 
|-
 
|-
 
|[[der(1;22)(q10;p10)]]
 
|[[der(1;22)(q10;p10)]]
 +
|
 +
|
 
|-
 
|-
 
|[[t(2;5)(p23;q35)]]
 
|[[t(2;5)(p23;q35)]]
−
|[[ALCL]],[[ NHL]]
+
|[[ALCL]],[[NHL]]
−
|[[ALK-NPM1]]
+
|[[NPM1-ALK]]
 
|-
 
|-
 
|[[t(2;8)(p12;q24.1)]]
 
|[[t(2;8)(p12;q24.1)]]
−
|[[BL]],[[ B-ALL]],[[ NHL ]]
+
|[[BL]],[[ B-ALL]],[[NHL]]
−
|[[MYC(C-MYC)]]
+
|[[MYC]]
 
|-
 
|-
 
|[[t(2;11)(p21;q23)]]
 
|[[t(2;11)(p21;q23)]]
−
|[[MDS]],[[ AML]],[[ B-ALL]]
+
|[[MDS]],[[AML]],[[B-ALL]]
−
|[[MLL]]
+
|[[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)]]
 
|-
 
|-
 
|[[t(3;5)(p21-25;q32-35)]]
 
|[[t(3;5)(p21-25;q32-35)]]
 
|[[MPD]]
 
|[[MPD]]
−
|[[GOLGA4-PDGFRB ]]
+
|[[GOLGA4-PDGFRB]]
 
|-
 
|-
 
|[[t(3;21)(q26.2;q22)]]
 
|[[t(3;21)(q26.2;q22)]]
Line 75: Line 87:
 
|[[t(4;11)(q21;q23)]]
 
|[[t(4;11)(q21;q23)]]
 
|[[B-ALL]],[[ T-ALL]]
 
|[[B-ALL]],[[ T-ALL]]
−
|[[AFF1(AF4)-MLL]]
+
|[[KMT2A-AFF1]]
 
|-
 
|-
 
|[[t(4;14)(p16.3;q32)]]
 
|[[t(4;14)(p16.3;q32)]]
 
|[[MM]]
 
|[[MM]]
−
|[[ FGFR3-IGH]]
+
|[[IGH-FGFR3]]
 
|-
 
|-
 
|[[t(4;22)(q12;q11)]]
 
|[[t(4;22)(q12;q11)]]
 
|[[atypical MPD]]
 
|[[atypical MPD]]
−
|[[ PDGFRA -BCR]]
+
|[[BCR-PDGFRA]]
 
|-
 
|-
 
|[[t(4;5;5)(q23;q31;q33)]]
 
|[[t(4;5;5)(q23;q31;q33)]]
−
|[[chronic basophilic leukemia]]
+
|[[Chronic Basophilic Leukemia]]
 
|[[PRKG2-PDGFRB]]
 
|[[PRKG2-PDGFRB]]
 
|-
 
|-
Line 102: Line 114:
 
|-
 
|-
 
|[[t(5;12)(q33;q24)]]
 
|[[t(5;12)(q33;q24)]]
−
|[[MPD with eosinophilia  ]]
+
|[[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]],[[ atypical MPD]]
+
|[[MPD]],[[MPD]]
 
|[[NIN-PDGFRB]]
 
|[[NIN-PDGFRB]]
 
|-
 
|-
 
|[[t(5;14)(q33;q32)]]
 
|[[t(5;14)(q33;q32)]]
 +
|
 
|[[CCDC88C(KIAA1509)-PDGFRB]]
 
|[[CCDC88C(KIAA1509)-PDGFRB]]
 
|-
 
|-
 
|[[t(5;15)(q33;q22)]]
 
|[[t(5;15)(q33;q22)]]
−
|[[CMML atypical MPD]]
+
|[[CMML]],[[MPD]]
 
|[[TP53BP1-PDGFRB]]
 
|[[TP53BP1-PDGFRB]]
 
|-
 
|-
Line 129: Line 142:
 
|-
 
|-
 
|[[der(5;17)(p10;q10)]]
 
|[[der(5;17)(p10;q10)]]
−
|[[MDS]],[[ AML]]
+
|[[MDS]],[[AML]]
 
|[[NPM1(NPM)-RARA]]
 
|[[NPM1(NPM)-RARA]]
 
|-
 
|-
Line 137: Line 150:
 
|-
 
|-
 
|[[t(5;17)(q33;p13)]]
 
|[[t(5;17)(q33;p13)]]
−
|[[CMML]],[[ atypical MPD]]
+
|[[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(AF6)-MLL]]
+
|[[KMT2A-MLLT4]]
 
|-
 
|-
 
|[[t(7;11)(p15;p15)]]
 
|[[t(7;11)(p15;p15)]]
Line 157: Line 171:
 
|[[t(8;14)(q24.1;q32) ]]
 
|[[t(8;14)(q24.1;q32) ]]
 
|[[BL]],[[ B-ALL]],[[ NHL]]
 
|[[BL]],[[ B-ALL]],[[ NHL]]
−
|[[MYC(C-MYC)- IGH]]
+
|[[IGH-MYC]]
 
|-
 
|-
−
|[[t(8;16)(p11.2;p13.3) A]]
+
|[[t(8;16)(p11.2;p13.3)]]
−
|[[AML M4]],[[ M5a]],[[ M5b]],[[ t-MDS]]
+
|[[AML]],[[t-MDS]]
 
|[[KAT6A(MYST3)-CREBBP(CBP)]]
 
|[[KAT6A(MYST3)-CREBBP(CBP)]]
 
|-
 
|-
 
|[[t(8;21)(q22;q22) A ]]
 
|[[t(8;21)(q22;q22) A ]]
−
|[[AML M2 mostly]],[[ rarely M1]],[[ M4]]
+
|[[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]]
−
|[[MYC(C-MYC)-IGL(IGL)]]
+
|[[IGL-MYC]]
 
|-
 
|-
 
|[[add(9)(p24)]]
 
|[[add(9)(p24)]]
 +
|
 
|[[JAK2]]
 
|[[JAK2]]
 
|-
 
|-
 
|[[t(9;11)(p22;q23)]]
 
|[[t(9;11)(p22;q23)]]
−
|[[AML mostly M5]],[[ M4]],[[ B-ALL]]
+
|[[AML]],[[B-ALL]]
−
|[[MLLT3(AF9)-MLL]]
+
|[[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) A B ]]
+
|[[t(9;22)(q34;q11.2)]]
−
|[[CML]],[[ B-ALL]],[[ T-ALL]]
+
|[[CML]],[[ B-ALL]],[[T-ALL]]
 
|[[ABL1(ABL)-BCR]]
 
|[[ABL1(ABL)-BCR]]
 
|-
 
|-
−
|[[t(11;14)(q13;q32) A ]]
+
|[[t(11;14)(q13;q32)]]
 
|[[MCL]],[[ MM]]
 
|[[MCL]],[[ MM]]
−
|[[CCND1(BCL1)- IGH]]
+
|[[IGH-CCND1]]
 
|-
 
|-
 
|[[t(11;14)(q23;q32)]]
 
|[[t(11;14)(q23;q32)]]
−
|[[t-AML]]
+
|[[AML]]
−
|[[MLL-KIAA0284]]
+
|[[KMT2A-KIAA0284]]
 
|-
 
|-
 
|[[t(11;16)(q23;p13.3)]]
 
|[[t(11;16)(q23;p13.3)]]
Line 206: Line 221:
 
|[[BIRC3(API2)-MALT1]]
 
|[[BIRC3(API2)-MALT1]]
 
|-
 
|-
−
|[[t(11;19)(q23;p13.1) ]]
+
|[[t(11;19)(q23;p13.1)]]
 
|[[AML]]
 
|[[AML]]
−
|[[MLL-ELL]]
+
|[[KMT2A-ELL]]
 
|-
 
|-
−
|[[t(11;19)(q23;p13.3) ]]
+
|[[t(11;19)(q23;p13.3)]]
−
|[[B-ALL]],[[ AML]],[[ T-ALL]]
+
|[[B-ALL]],[[AML]],[[T-ALL]]
−
|[[MLL-MLLT1(ENL)]]
+
|[[KMT2A-MLLT1]]
 
|-
 
|-
 
|[[t(14;16)(q32;q23)]]
 
|[[t(14;16)(q32;q23)]]
Line 218: 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)]]
 +
|[[B-ALL]]
 +
|[[IGH-EPOR]]
 
|-
 
|-
 
|[[t(14;22)(q32;q11.2)]]
 
|[[t(14;22)(q32;q11.2)]]
Line 243: Line 263:
 
|[[der(Y)t(Y;1)(q12;q12) ]]
 
|[[der(Y)t(Y;1)(q12;q12) ]]
 
|[[MDS]]
 
|[[MDS]]
−
 
+
|
 
|}
 
|}
  
Line 255: 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 269: Line 289:
 
|[[inv(16)(p13.1q22)]]
 
|[[inv(16)(p13.1q22)]]
 
|[[AML M4Eo]]
 
|[[AML M4Eo]]
−
|[[MYH11]],[[ CBFB]]
+
|[[MYH11-CBFB]]
 
|}
 
|}
  
Line 282: Line 302:
 
|-
 
|-
 
|[[dup(1)(q11q44) ]]
 
|[[dup(1)(q11q44) ]]
 +
|
 +
|
 
|-
 
|-
 
|[[dup(1)(q21q32) ]]
 
|[[dup(1)(q21q32) ]]
 
|[[B-ALL]],[[ NHL]]
 
|[[B-ALL]],[[ NHL]]
 +
|
 
|-
 
|-
 
|[[dup(1)(q21q42)]]
 
|[[dup(1)(q21q42)]]
 +
|
 +
|
 
|-
 
|-
 
|[[dup(1)(q23q32)]]
 
|[[dup(1)(q23q32)]]
 +
|
 +
|
 
|-
 
|-
 
|[[dup(1)(q23q42)]]
 
|[[dup(1)(q23q42)]]
 
|[[NHL ]]
 
|[[NHL ]]
 +
|
 
|-
 
|-
 
|[[dup(11)(q13q25)]]
 
|[[dup(11)(q13q25)]]
Line 298: Line 326:
 
|-
 
|-
 
|[[dup(12)(q13q22)]]
 
|[[dup(12)(q13q22)]]
 +
|
 +
|
 
|}
 
|}
−
 
  
 
==Isochromsomes==
 
==Isochromsomes==
Line 311: Line 340:
 
|-
 
|-
 
|[[i(1)(q10)]]
 
|[[i(1)(q10)]]
−
|[[NHL ]]
+
|[[NHL]]
 +
|
 
|-
 
|-
 
|[[i(3)(q10)]]
 
|[[i(3)(q10)]]
−
|[[NHL ]]
+
|[[NHL]]
 +
|
 
|-
 
|-
 
|[[i(7)(q10) ]]
 
|[[i(7)(q10) ]]
 
|[[T-cell lymphoma]]
 
|[[T-cell lymphoma]]
 +
|
 
|-
 
|-
 
|[[i(8)(q10)]]
 
|[[i(8)(q10)]]
−
|[[T-PLL]],[[ AML]],[[ B-ALL]]
+
|[[T-ALL]],[[ AML]],[[ B-ALL]]
 +
|
 
|-
 
|-
 
|[[i(11)(q10) ]]
 
|[[i(11)(q10) ]]
−
|[[AML M2]],[[ M4]],[[ MDS]]
+
|[[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 M1]],[[ M2]],[[ M4]],[[ MDS]],[[ RARS]]
+
|[[AML]],[[MDS]],[[RARS]]
 
|[[XIST]]
 
|[[XIST]]
 
|}
 
|}
Line 349: Line 385:
 
|[[ETV6 (TEL)-RUNX1(AML1)]]
 
|[[ETV6 (TEL)-RUNX1(AML1)]]
 
|-
 
|-
−
|[[t(X;14)]]
+
|[[t(X;14) and t(Y;14)]]
−
|[[B-ALL]]
 
−
|[[CRLF2-IGH]]
 
−
|-
 
−
|[[t(Y;14)]]
 
 
|[[B-ALL]]
 
|[[B-ALL]]
−
|[[CRLF2-IGH]]
+
|[[T(X;14) and t(Y;14)|IGH-CRLF2]]
 
|-
 
|-
 
|[[t(5;14)(q35;q32)]]
 
|[[t(5;14)(q35;q32)]]
Line 362: Line 394:
 
|-
 
|-
 
|[[del(1)(p32p32)]]
 
|[[del(1)(p32p32)]]
−
|[[B-ALL]]
+
|[[T-ALL]]
−
|[[TAL1-STIL]]
+
|[[SIL(STIL)-TAL1]]
 
|}
 
|}
−
 
  
 
==Deletions==
 
==Deletions==
Line 378: Line 409:
 
|[[del(1)(p32p36)]]
 
|[[del(1)(p32p36)]]
 
|[[NHL]],[[ MM]]
 
|[[NHL]],[[ MM]]
 +
|
 
|-
 
|-
 
|[[del(1)(p32-34p36.1)]]
 
|[[del(1)(p32-34p36.1)]]
 +
|
 +
|
 
|-
 
|-
 
|[[del(1)(p36.1)]]
 
|[[del(1)(p36.1)]]
Line 386: Line 420:
 
|-
 
|-
 
|[[del(3)(p13p21)]]
 
|[[del(3)(p13p21)]]
−
 
+
|
 +
|
 
|-
 
|-
 
|[[del(3)(q21)]]
 
|[[del(3)(q21)]]
 
|[[B-ALL]],[[ AML]],[[ NHL]]
 
|[[B-ALL]],[[ AML]],[[ NHL]]
−
 
+
|
 
|-
 
|-
 
|[[del(5)(q13q33) ]]
 
|[[del(5)(q13q33) ]]
Line 413: Line 448:
 
|-
 
|-
 
|[[del(6)(q13q23)]]
 
|[[del(6)(q13q23)]]
−
|[[CLL]],[[ atypical CLL]],[[ FL]],[[ MCL]],[[ T-NHL]],[[ childhood B-ALL]],[[ childhood T-ALL]],[[ adult ALL]],[[ MM]]
+
|[[CLL]],[[ atypical CLL]],[[FL]],[[MCL]],[[T-NHL]],[[ childhood B-ALL]],[[ childhood T-ALL]],[[ adult ALL]],[[MM]]
 +
|
 
|-
 
|-
 
|[[del(6)(q15q21)]]
 
|[[del(6)(q15q21)]]
−
 
+
|
 +
|
 
|-
 
|-
 
|[[del(6)(q21)]]
 
|[[del(6)(q21)]]
 
|[[CLL]],[[ atypical CLL]],[[ AML]],[[ childhood B-ALL]],[[ childhood T-ALL]],[[ adult ALL]],[[ MM]]
 
|[[CLL]],[[ atypical CLL]],[[ AML]],[[ childhood B-ALL]],[[ childhood T-ALL]],[[ adult ALL]],[[ MM]]
 +
|
 
|-
 
|-
 
|[[del(7)(p15)]]
 
|[[del(7)(p15)]]
 +
|
 +
|
 
|-
 
|-
 
|[[del(7)(p13) ]]
 
|[[del(7)(p13) ]]
 
|[[AML]],[[ NHL]]
 
|[[AML]],[[ NHL]]
 +
|
 
|-
 
|-
 
|[[del(7)(p13p15)]]
 
|[[del(7)(p13p15)]]
−
 
+
|
 +
|
 
|-
 
|-
 
|[[del(7)(p11.2)]]
 
|[[del(7)(p11.2)]]
 
|[[B-ALL]],[[ AML]],[[ MDS]]
 
|[[B-ALL]],[[ AML]],[[ MDS]]
 +
|
 
|-
 
|-
 
|[[del(7)(q11.2)]]
 
|[[del(7)(q11.2)]]
 
|[[B-ALL]],[[ AML]],[[ MDS]]
 
|[[B-ALL]],[[ AML]],[[ MDS]]
−
 
+
|
 
|-
 
|-
 
|[[del(7)(q22q34)]]
 
|[[del(7)(q22q34)]]
 
|[[AML]],[[ MDS]],[[ NHL]]
 
|[[AML]],[[ MDS]],[[ NHL]]
−
 
+
|
 
|-
 
|-
 
|[[del(7)(q32q34)]]
 
|[[del(7)(q32q34)]]
 
|[[AML]],[[ MDS]],[[ NHL]]
 
|[[AML]],[[ MDS]],[[ NHL]]
−
 
+
|
 
|-
 
|-
 
|[[del(7)(q32)]]
 
|[[del(7)(q32)]]
 
|[[AML]],[[ MDS]],[[ NHL]]
 
|[[AML]],[[ MDS]],[[ NHL]]
 +
|
 
|-
 
|-
 
|[[del(8)(p21)]]
 
|[[del(8)(p21)]]
 +
|
 +
|
 
|-
 
|-
 
|[[del(8)(q22)]]
 
|[[del(8)(q22)]]
 +
|
 +
|
 
|-
 
|-
 
|[[del(9)(p13)]]
 
|[[del(9)(p13)]]
 
|[[B-ALL]],[[ NHL]],[[ pediatric B-ALL ]]
 
|[[B-ALL]],[[ NHL]],[[ pediatric B-ALL ]]
−
 
+
|
 
|-
 
|-
 
|[[del(9)(p13p22)]]
 
|[[del(9)(p13p22)]]
 
|[[B-ALL]]
 
|[[B-ALL]]
 +
|
 
|-
 
|-
 
|[[del(9)(p21)]]
 
|[[del(9)(p21)]]
 
|[[B-ALL]],[[ AML]],[[ NHL]]
 
|[[B-ALL]],[[ AML]],[[ NHL]]
−
 
+
|
 
|-
 
|-
 
|[[del(9)(p22)]]
 
|[[del(9)(p22)]]
 
|[[B-ALL]]
 
|[[B-ALL]]
−
 
+
|
 
|-
 
|-
 
|[[del(9)(q13)]]
 
|[[del(9)(q13)]]
 
|[[AML M1]],[[ M2]],[[ M4]],[[ M6]]
 
|[[AML M1]],[[ M2]],[[ M4]],[[ M6]]
−
 
+
|
 
|-
 
|-
 
|[[del(9)(q13q22)]]
 
|[[del(9)(q13q22)]]
 
|[[AML]],[[ MDS]]
 
|[[AML]],[[ MDS]]
−
 
+
|
 
|-
 
|-
 
|[[del(10)(q24)]]
 
|[[del(10)(q24)]]
−
 
+
|
 +
|
 
|-
 
|-
 
|[[del(11)(p11.2)]]
 
|[[del(11)(p11.2)]]
 
|[[NHL]]
 
|[[NHL]]
−
 
+
|
 
|-
 
|-
 
|[[del(11)(p12p13)]]
 
|[[del(11)(p12p13)]]
Line 486: Line 536:
 
|-
 
|-
 
|[[del(11)(q13)]]  
 
|[[del(11)(q13)]]  
−
|Missing
+
|
 +
|
 
|-
 
|-
 
|[[del(11)(q13q21)]]  
 
|[[del(11)(q13q21)]]  
−
|Missing
+
|
 +
|
 
|-
 
|-
 
|[[del(11)(q13q23)]]
 
|[[del(11)(q13q23)]]
Line 509: Line 561:
 
|[[del(13)(q12q14)]]
 
|[[del(13)(q12q14)]]
 
|[[AML]],[[ AMM]],[[ MDS]],[[ NHL]]
 
|[[AML]],[[ AMM]],[[ MDS]],[[ NHL]]
−
 
+
|
 
|-
 
|-
 
|[[del(13)(q12q22)]]
 
|[[del(13)(q12q22)]]
 
|[[AML]],[[ PMF]],[[ CLL]],[[ MM]],[[ MDS]],[[ NHL]]
 
|[[AML]],[[ PMF]],[[ CLL]],[[ MM]],[[ MDS]],[[ NHL]]
 +
|
 
|-
 
|-
 
|[[del(14)(q24) ]]
 
|[[del(14)(q24) ]]
 
|[[NHL]]
 
|[[NHL]]
 +
|
 
|-
 
|-
 
|[[del(16)(q22)]]
 
|[[del(16)(q22)]]
−
|[[AML]],[[ AML-M4Eo]],[[ NHL]]
+
|[[AML]],[[AML-M4Eo]],[[ NHL]]
−
 
+
|
 
|-
 
|-
 
|[[del(17)(p11.2)]]
 
|[[del(17)(p11.2)]]
Line 527: Line 581:
 
|[[del(18)(q21)]]
 
|[[del(18)(q21)]]
 
|[[AML]],[[ NHL]]
 
|[[AML]],[[ NHL]]
−
 
+
|
 +
|-
 +
|[[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)]]
 
|[[AML]],[[ MDS]],[[ MPD]]
 
|[[AML]],[[ MDS]],[[ MPD]]
−
|[["
+
|
 
|-
 
|-
 
|[[del(X)(q24)]]
 
|[[del(X)(q24)]]
 
|[[NHL]]
 
|[[NHL]]
−
 
+
|
 
|}
 
|}
  
Line 549: Line 607:
 
|'''ANOMALY'''
 
|'''ANOMALY'''
 
|'''ASSOCIATED DISORDERS with FISH test'''
 
|'''ASSOCIATED DISORDERS with FISH test'''
−
|'''GENES'''
 
 
|-
 
|-
 
|[[+3]]
 
|[[+3]]
Line 579: Line 636:
 
|-
 
|-
 
|[[+15]]
 
|[[+15]]
−
|Age related when sole anomaly or with -Y
+
|[[Age Related]] when sole anomaly or with [[-Y]]
 
|-
 
|-
 
|[[+19]]
 
|[[+19]]
Line 590: Line 647:
 
|[[AML-M4eo]]
 
|[[AML-M4eo]]
 
|-
 
|-
−
|[[-7 A B]]
+
|[[-7]]
−
|[[MDS]],[[ RAEB/RAEB±T]],[[ CMML]],[[ J-CML]],[[ AML most often M4 or M6.]]
+
|[[MDS]],[[RAEB/RAEB±T]],[[CMML]],[[J-CML]],[[AML most often M4 or M6.]]
 
|-
 
|-
 
|[[-Y ]]
 
|[[-Y ]]
−
|age related when sole anomaly
+
|[[Age Related]] when sole anomaly
  
 
|}
 
|}
Line 617: Line 674:
 
|[[t(8;14)(q11;q32)]]
 
|[[t(8;14)(q11;q32)]]
 
|[[B-ALL]]
 
|[[B-ALL]]
−
|[[CEBPD-IGH]]
+
|[[IGH-CEBPB]]
 
|-
 
|-
 
|[[i(9)(q10)/idic(9)(q10)]]
 
|[[i(9)(q10)/idic(9)(q10)]]
 
|[[B-ALL]]
 
|[[B-ALL]]
 +
|
 
|-
 
|-
 
|[[dic(9;12)(p11;p11.2)]]
 
|[[dic(9;12)(p11;p11.2)]]
 
|[[B-ALL]]
 
|[[B-ALL]]
 +
|
 
|-
 
|-
 
|[[dic(9;20)(p11;q11)]]
 
|[[dic(9;20)(p11;q11)]]
Line 660: Line 719:
 
|[[T-ALL]]
 
|[[T-ALL]]
 
|[[LMO2(Rhom2)-TRA]]
 
|[[LMO2(Rhom2)-TRA]]
−
 
 
|}
 
|}
−
==Acknowledgements==
 
−
This list is based on the Mayo clinic Hematologic Cytogenetics Reference Sheet, November 2012
 

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

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,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 GIT2-PDGFRB
t(5;12)(q33;p13) CMML,MDS,MPD ETV6(TEL)-PDGFRB
t(5;14)(q33;q24) MPD,MPD NIN-PDGFRB
t(5;14)(q33;q32) CCDC88C(KIAA1509)-PDGFRB
t(5;15)(q33;q22) CMML,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,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) AML,t-MDS KAT6A(MYST3)-CREBBP(CBP)
t(8;21)(q22;q22) A AML 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 IGH-CCND1
t(11;14)(q23;q32) 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,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

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
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