To investigate the clinical characteristics and prognosis of pediatric acute myeloid leukemia (AML) with TLS::ERG fusion gene.

Clinical data from multiple pediatric hematology centers in South China were retrospectively reviewed for the period September 2015 to October 2025. Cases harboring the TLS::ERG fusion gene were identified and analyzed.

Among 875 children with AML, 12 (1.4%) were TLS::ERG positive; there were 6 males and 6 females, with a median age of 88 months. The complete remission rate after 2 induction courses was 83% (10/12). Six patients relapsed, yielding a relapse rate of 50% (6/12). Four patients remained disease-free, six died after relapse, and two were lost to follow-up. The 5-year overall survival and event-free survival were 38.4% (95%CI: 16.8%-87.8%) and 30.0% (95%CI: 12.0%-74.7%), respectively.

Pediatric AML with TLS::ERG fusion is rare, shows a high early induction remission rate, but has a high relapse rate and poor prognosis.

To investigate the predictive value of mRNA expression of five neuroblastoma (NB) markers—chromogranin A, doublecortin, dopa decarboxylase, paired-like homeobox 2b, and tyrosine hydroxylase (collectively referred to as NB5)—in bone marrow (BM) and peripheral blood (PB) for metastasis and recurrence in pediatric NB, to compare its performance with conventional flow cytometric measurable residual disease (MRD) detection, and to analyze its correlation with progression-free survival (PFS).

Clinical data of 47 children with NB admitted to Hunan Provincial People's Hospital from October 2018 to December 2024 were retrospectively collected. Real-time quantitative reverse transcription-polymerase chain reaction was used to detect NB5 expression in BM and PB. Survival was analyzed by the Kaplan-Meier method, and multivariable Cox regression was performed to adjust for confounders.

A total of 47 children were enrolled, including 44 high-risk (94%) and 3 low-risk (6%) patients. Overall, 99 BM tests were completed. The BM-NB5 positivity rate was 31% (31/99), significantly higher than the MRD positivity rate (19%, 19/99) and the BM morphologic positivity rate (15%, 15/99) (both P<0.001). Among 19 paired BM-PB samples, PB-NB5 was positive in 4 cases and BM-NB5 was positive in 8 cases; the positive concordance rate was 100%, the negative concordance rate was 47%, and the kappa coefficient was 0.321 (weak agreement). Log-rank analysis showed that among MRD-negative patients, the NB5-positive group had significantly shorter PFS than the NB5-negative group (P=0.040). Cox regression indicated a marginal association between NB5 expression and PFS (HR=4.367, 95%CI: 0.896-21.277, P=0.068).

BM-NB5 detection shows superior sensitivity for MRD identification compared with flow cytometric MRD and BM morphology in high-risk NB patients and can provide early warning of recurrence risk. NB5 expression appears to stratify prognosis in NB, warranting validation in a larger cohort to confirm its independent prognostic value.