Table 1.
Summary of findings from published studies identifying DUX4r subtype.
| Reference | Detection Method | Cohort (Age Range in Years) |
Frequency DUX4r | Additional Alterations | Prognosis | |||
|---|---|---|---|---|---|---|---|---|
| ERG | IKZF1 | PAX5 | CDKN2A | |||||
| Yeoh et al. 2002; [6] | Microarray GEP | Paediatric ALL (<19) | 14/327 (4.3%) | — | — | — | — | — |
| Mullighan et al. 2007; [7] | Microarray GEP | B-ALL | 19/218 (8.7%) | 13/19 (68.4%) | — | — | — | — |
| Harvey et al. 2010; [8] | Microarray GEP | HR * B-ALL (1–20) | 21/207 (10.1%) | 8/21 (38.1%) | 6/21 (28.6%) | 3/21 (14.3%) | 5/21 (23.8%) | 4-yr RFS 94% ± 5.1 |
| HR * B-ALL (validation cohort) | 5/99 (5.1%) | — | — | — | — | 1/5 (20%) relapse | ||
| Zhang et al. 2016; [9] | Microarray GEP RNA-seq (n=175) |
Paediatric B-ALL (0–15) | 94/1347 (7.0%) | 54/91 (59.3%) | 17/91 (18.7%) | 3/91 (3.3%) | — | — |
| Adolescent B-ALL (16–20) | 38/395 (9.62%) | 23/38 (60.5%) | 19/38 (50%) | 6/38 (15.8%) | — | — | ||
| Young Adult B-ALL (21–39) | 9/171 (5.3%) | 3/9 (33.3%) | 3/9 (33.3%) | 2/9 (22.2%) | — | — | ||
| Yasuda et al. 2016; [12] | RNA-seq | AYA Ph-negative B-ALL (15–39) | 12/62 (19.4%) | — | — | — | — | 8 CR; 1 CR after SCT; 1 Early mortality; 2 NA |
| Lilljebjörn et al. 2016; [13] | RNA-seq | Paediatric B-ALL (<18) | 8/195 (4%) | 5/8 (62.5%) | — | — | — | No observed relapses |
| Paediatric B-Other ^ (2–15) | 20/49 (40.8%) | 10/20 (50%) | — | — | — | 4/20 (20%) relapse | ||
| Liu et al. 2016; [19] | RNA-seq | Children (<18) | 6/94 (6.4%) | — | 3/6 (50%) | 4/6 (66.7%) | 3/6 (50%) | 5-yr OS 100% |
| Adult (>18) | 5/78 (6.4%) | — | 1/5 (20%) | 3/5 (60%) | 3/5 (60%) | 5-yr OS 53% | ||
| Vendramini 2017; [16] | Microarray GEP | Paediatric B-Other ^ (<18) | 35/143 (24.5%) | 14/34 (41.2%) | 12/34 (35.3%) | 4/34 (11.8%) | 5/34 (14.7%) | 5-yr EFS 91.1% 4.9 |
| Marincevic-Zuniga 2017 [15] | RNA-seq | Paediatric B-ALL (<18) | 9/116 (7.8%) | 7/9 (77.8%) | — | — | — | 1/9 (11.1%) relapses |
| Li et al. 2018; [18] | RNA-seq | Children (<18) | 50/906 (5.5%) | — | — | — | — | — |
| Adult (>18) | 13/258 (5.0%) | — | — | — | — | — | ||
| Zur Stadt et al. 2019; [40] | gc-HTS | B-ALL (excludes ETV6-RUNX1, KMT2Ar and Ph+ALL) | 10/164 (6.1%) | 2/10 (20%) | — | — | — | — |
| Zaliova et al. 2019; [14] | RNA-seq | Paediatric B-Other ^ (1–18) | 30/110 (27%) | 19/30 (63%) | 6/30 (20%) | 6/30 (20%) | 9/30 (30%) | — |
| Gu et al. 2019; [17] | RNA-seq | Paediatric (0.2–15) | 61/1191 (5.1%) | — | 2/35 (5.7%) | — | — | Child (<18) 5-yr EFS and OS 93.2% ± 3.8 Adult (>18) 5-yr EFS 84.6% ± 10; 5-yr OS 85.7% ± 9.4 |
| AYA B-ALL (16–39) | 33/419 (7.9%) | — | 3/18 (16.7%) | — | — | |||
| Adult B-ALL (40–79) | 12/378 (3.2%) | — | — | — | — | |||
Abbreviations: GEP (gene expression profiling); RFS (relapse free survival); HR (high-risk); CR (complete remission); SCT (stem-cell transplant); EFS (event free survival); OS (overall survival).— Indicates data not provided in the cited study; * Determination of high-risk (HR) status based on high white cell count (WCC), older age of disease onset, and lack of favourable genetic features (ETV6-RUNX1 or trisomy of chromosomes 4/10). ^ B-Other refers to B-ALL patients that do not belong to one of the following recognized subtypes: ETV6-RUNX1, BCR-ABL1, TCF3-PBX1, KMT2Ar, hyperdiploidy or hypodiploidy.