Papillary Craniopharyngioma: an integrative and comprehensive review.

in Endocrine reviews by Ruth Prieto, Tareq A Juratli, Evan D Bander, Sandro Santagata, Laura Barrios, Priscilla K Brastianos, Theodore H Schwartz, José M Pascual

TLDR

  • ELI5: Papillary craniopharyngioma (PCP) is a rare type of tumor that affects the hypothalamus in the brain. It is characterized by non-keratinizing squamous epithelium and typically grows as solid and round papillomatous masses or as unilocular cysts with a cauliflower-like excrescence. PCPs are benign tumors, classified as WHO grade 1, and occur in adults, with increased frequency in males. 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). The study provides a comprehensive review of PCPs, synthesizing information from a cohort of 560 well-described PCPs and 99 large CP series including PCP cases published from 1856-2023. The study highlights the importance of understanding the pathogenesis of PCPs and the potential benefits of targeted therapies, such as BRAF/MEK inhibitors. The study also identifies the need for further research to explore the role of other genetic mutations in PCP pathogenesis and to develop more effective surgical management techniques. The study suggests that future research should focus on developing personalized treatment plans for PCP patients, incorporating both targeted therapies and surgical interventions. The study also highlights the importance of early diagnosis and intervention for PCP patients, as delayed diagnosis and treatment can lead to significant morbidity and mortality.

Abstract

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 WHO grade 1, characterized by non-keratinizing 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. MRI 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 (MAPK/ERK) signaling pathway. A phase 2 clinical trial has demonstrated that PCPs respond well to BRAF/MEK inhibitors. This comprehensive review synthesizes information from a cohort of 560 well-described PCPs and 99 large CP series including PCP cases published from 1856-2023 and represents the most extensive collection of knowledge on PCPs to date.

Overview

  • The study focuses on papillary craniopharyngioma (PCP), 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 WHO grade 1, characterized by non-keratinizing squamous epithelium. The study aims to provide a comprehensive review of PCPs, synthesizing information from a cohort of 560 well-described PCPs and 99 large CP series including PCP cases published from 1856-2023. The primary objective is to provide a detailed understanding of PCPs, including their clinical manifestations, pathogenesis, and management options.

Comparative Analysis & Findings

  • The study compares the outcomes observed under different experimental conditions or interventions detailed in the study. The study identifies that over 90% of PCPs harbor the somatic BRAFV600E mutation, which activates the mitogen-activated protein kinase (MAPK/ERK) signaling pathway. A phase 2 clinical trial has demonstrated that PCPs respond well to BRAF/MEK inhibitors. The study also highlights the clinical manifestations of PCPs, which commonly include visual deficits and a wide range of psychiatric disturbances (45% of patients). The study also discusses the surgical management of PCPs, which is challenging and poses significant risk of hypothalamic injury. The endoscopic endonasal approach allows radical tumor resection and yields more favorable patient outcomes.

Implications and Future Directions

  • The study's findings have significant implications for the field of research and clinical practice. The study highlights the importance of understanding the pathogenesis of PCPs and the potential benefits of targeted therapies, such as BRAF/MEK inhibitors. The study also identifies the need for further research to explore the role of other genetic mutations in PCP pathogenesis and to develop more effective surgical management techniques. The study suggests that future research should focus on developing personalized treatment plans for PCP patients, incorporating both targeted therapies and surgical interventions. The study also highlights the importance of early diagnosis and intervention for PCP patients, as delayed diagnosis and treatment can lead to significant morbidity and mortality.
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