Pulmonary sequestration with a rare renal artery subtype: a comprehensive clinicopathological analysis of 20 pediatric cases

This comprehensive study of 20 pediatric pulmonary sequestration (PS) cases primarily aims to demonstrate the pivotal role of histopathological confirmation in achieving a definitive diagnosis, particularly in atypical, extrathoracic, or diagnostically inconclusive presentations where imaging alone is often insufficient. We conducted a retrospective analysis of clinical data from 20 children with pathologically confirmed PS who underwent surgical resection at our hospital between October 2022 and March 2025. We conducted a comprehensive assessment of clinical, laboratory, imaging, and pathological data, highlighting two unique cases characterized by elevated tumor markers or endocrine dysregulation. Whole-exome sequencing (WES) was further performed in one of these cases. The cohort consisted of 20 pediatric patients (10 males, 10 females), aged 6 days to 6 years. Pathologically, 65% (95% CI: 40.8%-84.6%) were intralobar sequestration (ILS), and 35% (95% CI: 15.4%-59.2%) were extralobar sequestration (ELS). Lesions were primarily pulmonary, with one unique case located in the adrenal region and supplied by the renal artery. Concomitant congenital heart disease (CHD) was present in 7 patients (35%). Two cases showed elevated tumor markers and endocrine abnormalities: one exhibited elevated CA19-9 (40.17 U/mL), and aldosterone (398.12 pg/mL); the other demonstrated elevated CA125 (267.3 U/mL) and NSE (23.27 ng/mL). Exploratory whole-exome sequencing in the renal artery-supplied case identified a 7q11.21 duplication, classified as a variant of uncertain significance. Preoperative CT accurately suggested PS in 60% of cases, while definitive diagnosis of atypical variants relied on histopathological confirmation. Early surgical resection was safe and effective, with no recurrence during follow-up (median 6 months). This series delineates key aspects of PS management, including imaging diagnostic challenges, frequent association with CHD, surgical strategies, and postoperative surveillance. Histopathological examination was essential for definitive diagnosis, especially in atypical, extrathoracic, or radiologically inconclusive cases. These findings underscore the critical role of histopathology in accurately characterizing non-classical PS presentations.