Translocations – Part 1

 

Abnormal chromosome is on the right in each pair
Abnormality
(major breakpoint or breakpoint range)
Disorder
Genes Involved
(Linked to NCBI)
translocation 1p/3q translocation 1p/3q t(1;3)(p36.1;q21) AML PRDM16

RPN1
unbalanced translocation between 1q/7p unbalanced translocation between 1q/7p der(1;7)(q10;p10) MDS
translocation 1p/11q translocation 1p/11q t(1;11)(p32;q23) ALL,  MDS,  AML EPS15

KMT2A (MLL)
 translocation 1p/14q t(1;14)(p32-34;q11.2) ALL TAL1

TRA
translocation 1q/16q translocation 1q/16q der(16)t(1;16)(q21;q13) Wilm’s tumor
translocation 1q/19p* t(1;19)(q23;p13.3) ALL PBX1

TCF3 (E2A)
translocation 2p/8q translocation 2p/8q t(2;8)(p12;q24.1) ALL,  Burkitt’s lymphoma [variant of t(8;14)] IGK

(c-)MYC
translocation 2q/13q translocation 2q/13q t(2;13)(q35;q14) Alveolar rhabdomyo-sarcoma PAX3

FOXO1
translocation between the long arms of both chromosome 3 translocation between the long arms of both chromosome 3 t(3;3)(q21;q26.2)  MDS,  AML RPN1

MECOM
translocation 3p/11q translocation 3p/11q t(3;11)(p21;q23) ALL– biphenotypic (rare) EEFSEC

KMT2A (MLL)
translocation 3q/14q translocation 3q/14q t(3;14)(q27;q32) Diffuse lg. cell or follicular B-non-Hodgkins lymphoma BCL6

IGH
translocation 3q/21q translocation 3q/21q t(3;21)(q26.2;q22) AML,  MDS MECOM

RUNX1 (AML1)
translocation 3q/22q translocation 3q/22q t(3;22)(q27;q11.2) Diffuse lg. cell or follicular B-non-Hodgkins lymphoma BCL6

IGL
translocation 4q/11p t(4;11)(q21;p15) T-cell ALL RAP1GDSI

NUP98
translocation 4q/11q translocation 4q/11q t(4;11)(q21;q23) ALL AFF1 (AF4)

KMT2A (MLL)
translocation 5q/12p translocation 5q/12p t(5;12)(q31;p13) AML,  MDS, RAEB,
acute eosinophilic leukemia (rare)
ACSL6

ETV6 (TEL)
translocation 6p/9q translocation 6p/9q t(6;9)(p23;q34) AML,  MDS DEK

NUP214 (CAN)
translocation 6q/11q translocation 6q/11q t(6;11)(q27;q23) AML AFDN (MLLT4) (AF6)

KMT2A (MLL)
translocation 7p/11p translocation 7p/11p  t(7;11)(p15;p15) AML HOXA9

NUP98
translocation 8q/14q*  t(8;14)(q24.1;q11.2) T-cell ALL (c-)MYC

TRA
translocation 8q/14q translocation 8q/14q t(8;14)(q24.1;q32) ALL,
Burkitt’s lymphoma
(c-)MYC

IGH
translocation 8p/16p t(8;16)(p11.2;p13.3) AML,  t-AML KAT6A (MOZ)

CREBBP
translocation 8q/21q translocation 8q/21q t(8;21)(q22;q22) AML RUNX1T1 (ETO)

RUNX1 (AML1)
translocation 8p/22q translocation 8p/22q t(8;22)(p11.2;q11.2)  CML-like (rare) FGFR1

BCR
translocation 8q/22q translocation 8q/22q t(8;22)(q24.1;q11.2)  AML,
Burkitt’s lymphoma
[variant of t(8;14)]
(c-)MYC

IGL

 

Go to Translocations–Part 2

 


University of Wisconsin Cytogenetic Services