Pediatric Blood & Cancer最新文献

Current pediatric allogeneic hematopoietic stem cell transplantation (HSCT) services in South Africa do not meet the substantial demand in the country. The factors leading to this paucity are multifactorial, including a limited number of appropriate donors on our local registries, inadequate identification and referral of appropriate patients, long distances to travel to health facilities, socioeconomic inequality, and inadequate infrastructure and clinical expertise for the number of transplants required. We describe a model for a large HSCT unit that caters to insured and uninsured patients in order to ensure equitable access, and which is in line with the WHO health system building blocks. The scale at which transplantation will be achieved will allow for the development of local skills and expertise, which can be decentralized in the future to further improve HSCT access.

Purpose: To investigate the patterns of recurrence/metastasis and the clinical value of radiotherapy in local control for pediatric pancreatoblastoma.

Materials and methods: A retrospective analysis was conducted on 14 pediatric patients with pathologically confirmed pancreatoblastoma treated at our institution from June 2017 to June 2024. Clinical data, including baseline characteristics, surgical approaches, pathological staging, adjuvant therapies (chemotherapy/radiotherapy), recurrence/metastasis patterns, and subsequent interventions, were systematically collected. The impact of radiotherapy on local control was evaluated, with survival analysis performed using Kaplan-Meier methods, and prognostic factors analyzed via log-rank tests and Cox regression models.

Results: The median age of the entire cohort was 7 years (range, 3-13 years), with 4 cases of pancreatic head tumors and 10 cases of pancreatic body/tail tumors. At initial diagnosis, 57.1% (8/14) presented with regional lymph node metastasis, and 57.1% (8/14) had distant metastasis. The R0 resection rate during the first surgery was 57.1% (8/14), while R1/R2 resections accounted for 28.6% (4/14); 2 did not undergo surgery. With a median follow-up of 31 months, the overall survival rate was 78.6% (11/14). The recurrence/metastasis rate was 64.2% (9/14), with predominant patterns including tumor bed recurrence (3/9, 33.3%), regional lymph node metastasis (3/9, 66.7%), and liver metastasis (5/9, 55.6%). Multimodal therapies encompassed chemotherapy, secondary surgery, liver transplantation, and radiotherapy for metastatic lesions. In the radiotherapy group, the 1-year and 2-year local control rates were 100% and 88%, respectively. Log-rank test and Cox analysis identified failure to achieve R0 resection and regional lymph node metastasis as independent prognostic factors for inferior overall survival (P < 0.05). Other factors-including age, gender, presence of initial metastasis, initial liver/lung metastasis, number of recurrence/metastasis events, and radiotherapy-showed no significant correlation with overall survival.

Conclusion: Regional lymph node metastasis and failure to achieve R0 resection are critical prognostic factors affecting long-term survival in pancreatoblastoma patients. Adjuvant radiotherapy significantly improves local control rates and may enhance survival outcomes in patients with positive margins or lymph node metastasis by strengthening local disease control, warranting further validation in prospective studies.

Background: High-grade astrocytoma with piloid features (HGAP) is a recently defined central nervous system (CNS) tumor, first introduced into the 2021 World Health Organization (WHO) classification. While predominantly observed in adults, pediatric cases remain rare and poorly characterized. This study aimed to review the epidemiology, clinical features, and molecular profile of pediatric HGAP.

Methods: A comprehensive review of studies published from 2018 to 2025 was performed to identify methylation-confirmed HGAP cases in patients aged 18 years or younger. Data extracted from studies included subject demographics, tumor location, histological features, molecular alterations, and the implemented treatment sequence.

Results: The search identified 17 pediatric cases meeting the inclusion criteria. The median age at diagnosis was 15 years (range: 4-18 years), and a male predilection of approximately twofold was observed. Tumors most commonly arose in the posterior fossa (56.3%). Recurrent molecular alterations included CDKN2A/B loss (75%), FGFR1 mutations or fusions (55.6%), and ATRX loss (45.5%).

Conclusion: This review did not identify definitive clinical or histomolecular differences between pediatric and adult HGAP, underscoring the need for further comparative studies. Pediatric HGAP may represent an underrecognized diagnostic entity within the glioma spectrum, emphasizing the critical role of methylation profiling for accurate diagnosis and classification. Retrospective reclassification of histologically and molecularly ambiguous gliomas is warranted and may reveal additional cases. Larger pediatric cohorts are urgently needed to inform clinical management and refine prognostic stratification.

Approximately 10% of patients with Ewing sarcoma (EwS) have pathogenic germline variants. Here, we report two cases: first, a novel germline pathogenic variant in partner and localizer of BRCA2 (PALB2) in a patient with a late EwS relapse. Its impact on homologous recombination is demonstrated, and breast cancer risk is discussed. Second, we report a pathogenic germline variant in RAD50 in a patient with a rare prostate primary EwS and later concurrent relapsed EwS and therapy-related acute myeloid leukemia (tAML) with two rare KMT2A translocations. Understanding rare pathogenic germline variants and the impact on cancer behavior, response to treatment and treatment-associated toxicities is important for patients.