Abstract
Objective
This study aims to elucidate the clinicopathological characteristics, molecular profiles, and prognostic outcomes of congenital neuroblastoma in Chinese infants.
Methods
A retrospective single-center analysis was conducted on 15 pathologically confirmed congenital neuroblastoma cases in China from 2017 to 2025. Clinical, imaging, pathological features and FISH for
MYCN
amplification and
KMT2A
rearrangement were evaluated.
Results
The cohort included 15 patients with a male-to-female ratio of 8:7. Eight cases were detected prenatally and seven within 28 postnatal days. Most tumors (12/15) arose in the adrenal gland. Preoperative serum NSE elevation was more sensitive than VMA. All patients underwent complete resection; one received adjuvant chemotherapy and one relapsed. No
MYCN
amplification or
KMT2A
rearrangement was found.
Conclusion
In this single-center Chinese cohort, congenital neuroblastoma showed favorable biological behavior. Complete resection achieved good outcomes. Combination of NSE and imaging examinations is promising for postoperative prognostic evaluation and recurrence surveillance in these pediatric patients.