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Clinical impacts of copy number variations in B-cell differentiation and cell cycle control genes in pediatric B-cell acute lymphoblastic leukemia: a single centre experience Cover

Clinical impacts of copy number variations in B-cell differentiation and cell cycle control genes in pediatric B-cell acute lymphoblastic leukemia: a single centre experience

Radiology and Oncology
Volume 56 (2022): Issue 1 (March 2022)
By: Klementina Crepinsek,  Gasper Marinsek,  Marko Kavcic,  Tomaž Prelog,  Lidija Kitanovski,  Janez Jazbec and  Marusa Debeljak  
Open Access
|Dec 2021

Figures & Tables

Figure 1

Prevalence of ALL subtypes in the Slovenian pediatric B-ALL cohort.
Prevalence of ALL subtypes in the Slovenian pediatric B-ALL cohort.

Figure 2

Primary genetic alterations in patients with IKZF1 deletions.
Primary genetic alterations in patients with IKZF1 deletions.

Figure 3

The number of CNVs present in Slovenian B-ALL samples.
The number of CNVs present in Slovenian B-ALL samples.

Figure 4

Frequency of copy number variations: (A) Gene deletions in the cohort. (B) Gene amplifications in the cohort. BTG1 = BTG anti-proliferation factor 1; CDKN2A/2B = cyclin dependent kinase inhibitor 2A/2B; CRLF2 = cytokine receptor-like factor 2; CSF2RA = colony-stimulating factor 2 receptor α subunit; EBF1 = early B-cell factor 1; ETV6 = ETS variant 6; IKZF1 = IKAROS family zinc finger 1; IL3RA = interleukin 3 receptor subunit α; JAK2 = Janus kinase 2; PAX5 = paired box 5; P2RY8 = purinergic receptor P2Y8; SHOX = short-stature homeobox gene; RB1 = RB transcriptional corepressor 1
Frequency of copy number variations: (A) Gene deletions in the cohort. (B) Gene amplifications in the cohort. BTG1 = BTG anti-proliferation factor 1; CDKN2A/2B = cyclin dependent kinase inhibitor 2A/2B; CRLF2 = cytokine receptor-like factor 2; CSF2RA = colony-stimulating factor 2 receptor α subunit; EBF1 = early B-cell factor 1; ETV6 = ETS variant 6; IKZF1 = IKAROS family zinc finger 1; IL3RA = interleukin 3 receptor subunit α; JAK2 = Janus kinase 2; PAX5 = paired box 5; P2RY8 = purinergic receptor P2Y8; SHOX = short-stature homeobox gene; RB1 = RB transcriptional corepressor 1

Figure 5

(A) Event-free survival in patients with or without IKZF1 deletions (5-year event-free survival [EFS] 54.8% vs. 85.9%, p = 0.016). (B) Overall survival in patients with or without IKZF1 deletions (5-year overall survival [OS] 81.5% vs. 93.0%, p = 0.295).
(A) Event-free survival in patients with or without IKZF1 deletions (5-year event-free survival [EFS] 54.8% vs. 85.9%, p = 0.016). (B) Overall survival in patients with or without IKZF1 deletions (5-year overall survival [OS] 81.5% vs. 93.0%, p = 0.295).

Figure 6

(A) Event-free survival in patients without IKZF1 deletions, with IKZF1 deletions only, and those with the IKZF1plus profile (5-year EFS 85.9% vs. 75.0% vs. 50.8%, p = 0.049). (B) Overall survival in patients without IKZF1 deletions, with IKZF1 deletions only and those with the IKZF1plus profile (5-year OS 93.0% vs. 100% vs. 76.2%, p = 0.290).
(A) Event-free survival in patients without IKZF1 deletions, with IKZF1 deletions only, and those with the IKZF1plus profile (5-year EFS 85.9% vs. 75.0% vs. 50.8%, p = 0.049). (B) Overall survival in patients without IKZF1 deletions, with IKZF1 deletions only and those with the IKZF1plus profile (5-year OS 93.0% vs. 100% vs. 76.2%, p = 0.290).

The demographic and clinical characteristics of Slovenian B-ALL patients included in the study

Characteristic
Nr. of patients99
Sex
Male54 (54.5%)
Female45 (45.5%)
Primary genetic abnormalities
ETV6-RUNX128 (28.3%)
BCR-ABL17 (7.1%)
KMTrearrangements 2A4 (4.0%)
TCF3-PBX14 (4.0%)
Hyperdiploidy27 (27.3%)
Hypodiploidy3 (3.0%)
iAMP212 (2.0%)
No abnormalities recurrent Age at diagnosis24 (24.2%)
< 13 (3.0%)
1–557 (57.6%)
≥ 6 Risk group39 (39.4%)
Standard risk17 (17.2%)
Intermediate risk59 (59.6%)
High risk23 (23.2%)
FC- minimal residual disease
Day 15
< 0.1%35 (35.4%)
0.1–10%48 (48.5%)
> 10%13 (13.1%)
Unknown3 (3.0%)
Day 33
< 0.01%73 (73.7%)
0.01–1%20 (20.2%)
> 1% 3 (3.0%)
Unknown3 (3.0%)

Patients’ characteristics and response to treatment according to IKZF1 deletion status in 91 Slovenian pediatric B-ALL patients

CharacteristicIKZF1 status
No IKZF1 deletionIKZF1 deletion onlyIKZF1plus
Nr. of patients72511
Sex
Male34 (47.2%)5 (100%)9 (81.8%)
Female38 (52.8%)0 (0.0%)2 (18.2%)
Primary genetic abnormalities
ETV6-RUNX124 (33.3%)0 (0.0%)1 (9.1%)
BCR-ABL11 (1.4%)2 (40.0%)4 (36.4%)
KMT2A rearrangements4 (5.6%)0 (0.0%)0 (0.0%)
TCF3-PBX13 (4.2%)0 (0.0%)1 (9.1%)
Hyperdiploidy20 (27.8%)2 (40.0%)1 (9.1%)
Hypodiploidy2 (2.8%)0 (0.0%)1 (9.1%)
iAMP211 (1.4%)0 (0.0%)0 (0.0%)
No recurrent abnormalities18 (25.0%)1 (20.0%)3 (27.3%)
Age at diagnosis
< 13 (4.2%)0 (0.0%)0 (0.0%)
1–541 (56.9%)2 (40.0%)5 (45.5%)
≥ 628 (38.9%)3 (60.0%)6 (54.5%)
Risk group
Standard risk13 (18.1%)0 (0.0%)0 (0.0%)
Intermediate risk46 (63.9%)2 (40.0%)4 (36.4%)
High risk13 (18.1%)3 (60.0%)7 (63.6%)
FC- minimal residual disease
Day 15
< 0.1%30 (41.7%)0 (0.0%)1 (9.1%)
0.1–10%33 (45.8%)2 (40.0%)6 (54.5%)
> 10%6 (8.3%)3 (60.0%)4 (36.4%)
Unknown3 (4.2%)0 (0.0%)0 (0.0%)
Day 33
< 0.01%56 (77.8%)0 (0.0%)8 (72.7%)
0.01–1%13 (18.1%)3 (60.0%)2 (18.2%)
> 1%2 (2.8%)1 (20.0%)0 (0.0%)
Unknown1 (1.4%)1 (20.0%)1 (9.1%)
DOI: https://doi.org/10.2478/raon-2021-0050 | Journal eISSN: 1581-3207 | Journal ISSN: 1318-2099
Journal RSS Feed
Language: English
Page range: 92 - 101
Submitted on: Sep 7, 2021
|
Accepted on: Nov 5, 2021
|
Published on: Dec 22, 2021
Published by: Association of Radiology and Oncology
In partnership with: Paradigm Publishing Services
Publication frequency: 4 issues per year
Keywords:
B-acute lymphoblastic leukemia,
IKZF1 deletions,
IKZF1plus,
MLPA,
pediatric,
copy number variations (CNVs)
Related subjects:
Medicine,
Clinical medicine,
Internal medicine,
Haematology, oncology,
Radiology

© 2021 Klementina Crepinsek, Gasper Marinsek, Marko Kavcic, Tomaž Prelog, Lidija Kitanovski, Janez Jazbec, Marusa Debeljak, published by Association of Radiology and Oncology
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

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