Abstract
T-ALL relapse usually occurs early but can occur much later, which has been suggested to represent a de novo leukemia. However, we conclusively demonstrate late relapse can evolve from a pre-leukemic subclone harbouring a non-coding mutation that evades initial chemotherapy.
Subjects:
Lymphoid Neoplasia
References
1.
Teachey
DT
, O’Connor
D
. How I treat newly diagnosed T-cell acute lymphoblastic leukemia and T-cell lymphoblastic lymphoma in children
. Blood
. 2020
;135
(3
):159
-166
.2.
Kunz
JB
, Rausch
T
, Bandapalli
OR
, et al. Pediatric T-cell lymphoblastic leukemia evolves into relapse by clonal selection, acquisition of mutations and promoter hypomethylation
. Haematologica
. 2015
;100
(11
):1442
-1450
.3.
Tzoneva
G
, Perez-Garcia
A
, Carpenter
Z
, et al. Activating mutations in the NT5C2 nucleotidase gene drive chemotherapy resistance in relapsed ALL
. Nat Med
. 2013
;19
(3
):368
-371
.4.
Szczepanski
T
, van der Velden
VHJ
, Waanders
E
, et al. Late recurrence of childhood T-cell acute lymphoblastic leukemia frequently represents a second leukemia rather than a relapse: first evidence for genetic predisposition
. J Clin Oncol
. 2011
;29
(12
):1643
-1649
.5.
Furness
CL
, Mansur
MB
, Weston
VJ
, et al. The subclonal complexity of STIL-TAL1+ T-cell acute lymphoblastic leukaemia
. Leukemia
. 2018
;32
(9
):1984
-1993
.6.
Mansour
MR
, Duke
V
, Foroni
L
, et al. Notch-1 mutations are secondary events in some patients with T-cell acute lymphoblastic leukemia
. Clin Cancer Res
. 2007
;13
(23
):6964
-6969
.7.
Albertí-Servera
L
, Demeyer
S
, Govaerts
I
, et al. Single-cell DNA amplicon sequencing reveals clonal heterogeneity and evolution in T-cell acute lymphoblastic leukemia
. Blood
. 2021
;137
(6
):801
-811
.8.
Wright
G
, Watt
E
, Inglott
S
, Brooks
T
, Bartram
J
, Adams
SP
. Clinical benefit of a high-throughput sequencing approach for minimal residual disease in acute lymphoblastic leukemia
. Pediatr Blood Cancer
. 2019
;66
(8
):e27787
.9.
Richter-Pechańska
P
, Kunz
JB
, Rausch
T
, et al. Pediatric T-ALL type-1 and type-2 relapses develop along distinct pathways of clonal evolution
. Leukemia
. 2022
;36
(7
):1759
-1768
.10.
Yang
F
, Brady
SW
, Tang
C
, et al. Chemotherapy and mismatch repair deficiency cooperate to fuel TP53 mutagenesis and ALL relapse
. Nat Cancer
. 2021
;2
(8
):819
-834
.11.
Liu
Y
, Easton
J
, Shao
Y
, et al. The genomic landscape of pediatric and young adult T-lineage acute lymphoblastic leukemia
. Nat Genet
. 2017
;49
(8
):1211
-1218
.12.
O’Connor
D
, Demeulemeester
J
, Conde
L
, et al. The clinicogenomic landscape of induction failure in childhood and young adult T-cell acute lymphoblastic leukemia
. J Clin Oncol
. 2023
;41
(19
):3545
-3556
.13.
Mansour
MR
, Abraham
BJ
, Anders
L
, et al. Oncogene regulation. An oncogenic super-enhancer formed through somatic mutation of a noncoding intergenic element
. Science
. 2014
;346
(6215
):1373
-1377
.14.
Liu
Y
, Li
C
, Shen
S
, et al. Discovery of regulatory noncoding variants in individual cancer genomes by using cis-X
. Nat Genet
. 2020
;52
(8
):811
-818
.15.
Smith
C
, Goyal
A
, Weichenhan
D
, et al. TAL1 activation in T-cell acute lymphoblastic leukemia: a novel oncogenic 3′ neo-enhancer
. Haematologica
. 2023
;108
(5
):1259
-1271
.16.
Rahman
S
, Magnussen
M
, León
TE
, et al. Activation of the LMO2 oncogene through a somatically acquired neomorphic promoter in T-cell acute lymphoblastic leukemia
. Blood
. 2017
;129
(24
):3221
-3226
.17.
Abraham
BJ
, Hnisz
D
, Weintraub
AS
, et al. Small genomic insertions form enhancers that misregulate oncogenes
. Nat Commun
. 2017
;8
:14385
.18.
Ford
AM
, Fasching
K
, Panzer-Grümayer
ER
, Koenig
M
, Haas
OA
, Greaves
MF
. Origins of “late” relapse in childhood acute lymphoblastic leukemia with TEL-AML1 fusion genes
. Blood
. 2001
;98
(3
):558
-564
.19.
van Delft
FW
, Horsley
S
, Colman
S
, et al. Clonal origins of relapse in ETV6-RUNX1 acute lymphoblastic leukemia
. Blood
. 2011
;117
(23
):6247
-6254
.20.
Tzoneva
G
, Dieck
CL
, Oshima
K
, et al. Clonal evolution mechanisms in NT5C2 mutant-relapsed acute lymphoblastic leukaemia
. Nature
. 2018
;553
(7689
):511
-514
.21.
Williams
N
, Lee
J
, Mitchell
E
, et al. Life histories of myeloproliferative neoplasms inferred from phylogenies
. Nature
. 2022
;602
(7895
):162
-168
.22.
Gallon
R
, Phelps
R
, Betts
L
, et al. Detection of constitutional mismatch repair deficiency in children and adolescents with acute lymphoblastic leukemia
. Leuk Lymphoma
. 2023
;64
(1
):217
-220
.23.
Larson
RC
, Lavenir
I
, Larson
TA
, et al. Protein dimerization between Lmo2 (Rbtn2) and Tal1 alters thymocyte development and potentiates T cell tumorigenesis in transgenic mice
. EMBO J
. 1996
;15
(5
):1021
-1027
.© 2024 American Society of Hematology. Published by Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.
2024
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