颈动脉体瘤发病机制及诊疗研究进展

Advances in the pathogenesis, diagnosis, and treatment of carotid body tumors

摘要:

颈动脉体瘤（CBT）是一种起源于颈总动脉分叉处的罕见副神经节肿瘤，多呈良性生物学行为，但部分患者可发生局部侵袭、远处转移或复发。近年来，随着分子生物学及影像学的发展，CBT的发病机制、术前评估及治疗策略不断更新。研究认为，长期慢性缺氧及琥珀酸脱氢酶（SDH）相关基因突变共同参与了CBT的发生发展，其中SDH突变介导的假性缺氧通路是目前研究热点。彩色多普勒超声、CT血管造影（CTA）及磁共振血管造影（MRA）已成为CBT诊断及术前评估的重要手段；PUMCH分型在传统Shamblin分型基础上增加了肿瘤纵向解剖评估，有助于提高复杂病例的术前风险预测能力；GAPP评分可辅助评价肿瘤恶性潜能。外科手术切除仍为CBT的首选治疗方式，围手术期颈动脉保护、术前栓塞及腔内治疗等策略仍存在一定争议；对于无法手术或高危患者，精准放疗可作为有效的替代方案。本文围绕CBT的病因与发病机制、临床表现、分型、诊断、治疗及随访等方面研究进展进行综述，以期为临床诊疗及相关研究提供参考。

Abstract:

Carotid body tumor (CBT) is a rare paraganglioma arising from the carotid bifurcation and is generally characterized by benign biological behavior; however, a subset of patients may develop local invasion, recurrence, or distant metastasis. In recent years, advances in molecular biology and imaging techniques have substantially improved our understanding of the pathogenesis, diagnosis, and management of CBT. Current evidence indicates that chronic hypoxia and mutations in succinate dehydrogenase (SDH)-related genes jointly contribute to tumorigenesis, with SDH mutation-induced pseudohypoxia signaling representing a major research focus. Color Doppler ultrasonography, computed tomography angiography (CTA), and magnetic resonance angiography (MRA) remain the principal imaging modalities for diagnosis and preoperative evaluation. Compared with the traditional Shamblin classification, the Peking Union Medical College Hospital classification incorporates longitudinal anatomical extension, providing more accurate surgical risk stratification for complex tumors. In addition, the Grading System for Adrenal Pheochromocytoma and Paraganglioma (GAPP) facilitates assessment of malignant potential. Surgical resection remains the treatment of choice, whereas perioperative carotid management, preoperative embolization, and endovascular interventions continue to be topics of ongoing debate. Precision radiotherapy serves as an effective alternative for patients who are inoperable or at high surgical risk. This review summarizes recent advances in the pathogenesis, clinical manifestations, classification, diagnosis, treatment, and follow-up of CBT, aiming to provide updated evidence for clinical practice and future research.