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Chapter 56 Conventional and Molecular Cytogenomic Basis of Hematologic Malignancies 807
ALL MLL-r Leukemia AML
n=978 n=1590 n=579
EPS15
EPS15
AF6/MLLT4 AF6 EPS15
MLLT3
AF10/MLLT10 AF6
PTD other MLLT4
ELL 4 10
ENL 4 AF9
MLLT1 38 AF4
18 4 AFF1 9 29 MLLT3
60 AF4 -20 -13
12 AFF1 8 11
AF9 AF9 15 ENL
MLLT1
MLLT3 AF10 13 MLLT3 11
MLLT10 18 PTD AF10
ENL ELL MLLT10
MLLT1
Infants Pediatric Adult
n=558 n=416 n=616
EPS15 EPS15 EPS15
AF6
AFGMLLT4 other other MLLT4 other
AF6
ELL 9 MLLT4 13 AF4 6 8
3 AFF1
AF10 PTD 6
MLLT10 9 AF4 24 PTD 11 AF4
40 AFF1 ELL 5 45 AFF1
11 27 ELL 5
18 AF10 13 AF9 4
ENL 18 MLLT10 ENL MLLT3 AF10 8 13
MLLT1 AF9 MLLT1 MLLT10 AF9
MLLT3 ENL MLLT3
MLLT1
ALL AML ALL AML ALL AML
n=440 n=105 n=205 n=202 n=333 n=272
-13 -9 -11
12 20 other AF9 other
AF6
ENL
22 MLLT3 MLLT1 MLLT4
29 23 18 other AF9 37 36 AF9
AF4 ENL AF4 34 MLLT3 MLLT3
AFF1
ENL 96 AFF1 MLLT1 40 97 19 73 33 71
MLLT1 216 19 AF4 12
AFF1
73 18 28 20
37 40 10 274 64 29
AF9 ELL AF10 AF9 PTD ELL
MLLT3 MLLT10 MLLT3 AF10
MLLT90
Fig. 56.33. THE MLL RECOMBINOME IN ACUTE LEUKEMIA. Classification of patients according to
age classes and disease type. (Top) Frequency of most frequent translocation partner groups in the investigated
patient cohort of MLL-rearranged acute leukemia patients (n = 1590). This patient cohort was divided into
ALL (left) and AML patients (right). Gene names are written in black, and percentages are indicated as white
numbers. Thirty-three patients could not be classified into the ALL or the AML disease types, respectively.
(Middle) TPG frequencies for the infant, pediatric, and adult patient group. (Bottom) Subdivision of all three
age groups into ALL and AML patients. Negative numbers refer again to the number of patients who were
neither classified to the ALL nor to the AML subgroup. ALL, Acute lymphoblastic leukemia; AML, acute
myeloid leukemia; TPG, translocation partner group. (Reproduced with permission from Meyer et al: Leukemia
27:2165, 2013.)
TABLE Mixed Lineage Leukemia Translocations and Rearrangements 2015
56.9
# Cytogenetic Abnormality Breakpoint Hugo Name Leukemia Type
Characterized on the Molecular Level
1 t(1;11)(p32;q23) 1p32 EPS15 ALL, AML, CML
2 t(1;11)(q21;q23) 1q21 MLLT11 AML
3 ins(2;11)(q11.2–q12;q23) 2q11.2–q12 AFF3 ALL
4 t(2;11)(q33;q23) 2q33 ABI2 AML
5 t(2;11)(q37;q23) 2q37 SEPT2 t-AML, AML, t-MDS
6 t(3;11)(p21.3;q23) 3p21.3 SACM1L N/A
Continued
