A Systematic Review of 33 Cases of Branchiogenic Carcinoma: Clinicopathological Features and Prognostic Outcomes.

Abstract

This study aimed to systematically analyze the clinical characteristics, diagnostic controversies, and treatment outcomes of branchiogenic carcinoma (BC) to validate its status as a distinct pathological entity and evaluate the role of molecular biology in distinguishing primary carcinoma from metastatic lesions, thereby optimizing evidence-based diagnostic and therapeutic strategies. A retrospective cohort study was conducted, screening PubMed databases (1919-2025) for BC cases adhering to Martin-Huber, Wolff, and Khafif diagnostic criteria. (1) Tumor location: Anatomically confined to branchial cysts/sinuses. (2) Pathology: Histopathological evidence of gradual transition from normal squamous epithelium to invasive carcinoma. (3) Primary exclusion: No detectable primary malignancy after comprehensive evaluation. (4) Occult tumor assessment: No occult primaries identified during follow-up. (1) Nonprimary BC (e.g., metastatic SCC). (2) Ambiguous diagnoses (nonconforming histology or criteria). Thirty-three cases met inclusion criteria (33 for treatment analysis; 30 with full follow-up). Demographic, clinicopathological, and treatment data were collected. Survival rates and risk factors were analyzed using Kaplan-Meier methods and Cox regression models. BC predominantly affected males (2.2:1 male-to-female ratio), with a peak incidence at 50-60 years. Squamous cell carcinoma (SCC) accounted for 85.7% of cases, and 80.0% originated in the second branchial cleft. Integration of molecular imaging (18F-FDG PET/CT) with traditional diagnostic criteria significantly reduced occult primary tumor misdiagnosis. Disease-free survival (DFS) reached 86.7% with surgery alone, yet an 11.4% recurrence rate underscored the need for adjuvant therapy. HPV positivity (5.7%) correlated significantly with prognosis. While BC's status as an independent entity requires further molecular validation (e.g., whole-exome sequencing), this study highlights the necessity for international multicenter collaborations to build large-scale databases and explore chronic inflammation and immune microenvironment roles in carcinogenesis, advancing precision oncology paradigms.