Prieto Ruth, Juratli Tareq A, Bander Evan D, Santagata Sandro, Barrios Laura, Brastianos Priscilla K, Schwartz Theodore H, Pascual José M
Department of Neurosurgery, Puerta de Hierro University Hospital, 28222 Madrid, Spain.
Department of Neurosurgery, Laboratory of Translational Neuro-Oncology, Massachusetts General Hospital Cancer Center, Harvard Medical School, Boston, MA 02114, USA.
Endocr Rev. 2025 Mar 11;46(2):151-213. doi: 10.1210/endrev/bnae028.
Papillary craniopharyngioma (PCP) is a rare type of tumor, comprising ∼20% of all craniopharyngioma (CP) cases. It is now recognized as a separate pathological entity from the adamantinomatous type. PCPs are benign tumors, classified as World Health Organization grade 1, characterized by nonkeratinizing squamous epithelium. They typically grow as solid and round papillomatous masses or as unilocular cysts with a cauliflower-like excrescence. PCPs primarily occur in adults (95%), with increased frequency in males (60%), and predominantly affect the hypothalamus. Over 80% of these tumors are located in the third ventricle, expanding either above an anatomically intact infundibulum (strictly third ventricle tumors) or within the infundibulo-tuberal region of the third ventricle floor. Clinical manifestations commonly include visual deficits and a wide range of psychiatric disturbances (45% of patients), such as memory deficits and odd behavior. Magnetic resonance imaging can identify up to 50% of PCPs by the presence of a basal duct-like recess. Surgical management is challenging, requiring complex approaches to the third ventricle and posing significant risk of hypothalamic injury. The endoscopic endonasal approach allows radical tumor resection and yields more favorable patient outcomes. Of intriguing pathogenesis, over 90% of PCPs harbor the somatic BRAFV600E mutation, which activates the mitogen-activated protein kinase signaling pathway. A phase 2 clinical trial has demonstrated that PCPs respond well to proto-oncogene B-Raf/MAPK/ERK kinase inhibitors. This comprehensive review synthesizes information from a cohort of 560 well-described PCPs and 99 large CP series including PCP cases published from 1856 to 2023 and represents the most extensive collection of knowledge on PCPs to date.
乳头状颅咽管瘤（PCP）是一种罕见的肿瘤类型，约占所有颅咽管瘤（CP）病例的20%。现在它被认为是一种与成釉细胞瘤型不同的病理实体。PCP是良性肿瘤，被归类为世界卫生组织1级，其特征是非角化鳞状上皮。它们通常生长为实性圆形乳头状肿块或呈单房囊肿，伴有菜花状赘生物。PCP主要发生于成人（95%），男性发病率更高（60%），主要累及下丘脑。这些肿瘤中超过80%位于第三脑室，可向上扩展至解剖结构完整的漏斗部上方（严格意义上的第三脑室肿瘤）或第三脑室底部的漏斗 - 结节区域内。临床表现通常包括视力缺陷和广泛的精神障碍（45%的患者），如记忆缺陷和怪异行为。磁共振成像通过基底导管样凹陷的存在可识别高达50%的PCP。手术治疗具有挑战性，需要采用复杂的方法处理第三脑室，且存在下丘脑损伤的重大风险。内镜鼻内入路可实现肿瘤根治性切除，并产生更有利的患者预后。在有趣的发病机制方面，超过90%的PCP存在体细胞BRAFV600E突变，可以激活丝裂原活化蛋白激酶信号通路。一项2期临床试验表明，PCP对原癌基因B - Raf/丝裂原活化蛋白激酶/细胞外信号调节激酶激酶抑制剂反应良好。这篇综述综合了560例详细描述的PCP以及99个包含PCP病例的大型CP系列的数据，这些数据来自1856年至2023年发表的文献，是迄今为止关于PCP最广泛的知识汇总。
