Papillary Craniopharyngioma in a Young Child: The Importance of <i>BRAF</i> Mutational Testing

Magaki, Shino; Raghavan, Ravi; Minasian, Tanya; Reyes, Kenneth De Los; Kelly, Thomas; Farzin-Gohar, Shadi; Deisch, Jeremy

doi:10.1017/cjn.2019.314

Cited by 2 publications

(1 citation statement)

References 7 publications

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“…This histological rarity, found in 5% of the cases in both our cohort and previous studies [17,51], suggests that PCPs and Rathke's cleft cysts represent a disease spectrum with a common origin [52,53]. Some authors have even proposed that PCPs may arise from Rathke's cleft cysts by acquiring a BRAF mutation [54,55]. Such a hypothesis, however, might only be meaningful for the small group of PCPs with ciliated/goblet cells, as we found they specifically develop below the 3VF (Fig.…”

Section: Discussionsupporting

confidence: 69%

Papillary Craniopharyngioma: A Type of Tumor Primarily Impairing the Hypothalamus – A Comprehensive Anatomo-Clinical Characterization of 350 Well-Described Cases

2021

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Objective: Papillary craniopharyngiomas (PCPs) represent a rare histological variant of craniopharyngiomas (CPs) usually involving the hypothalamus. This study systematically analyzes the clinical-anatomical correlation between tumor topography and symptoms related to hypothalamic dysfunction in the largest series of PCPs ever gathered. Methods: From 5,346 CP reports published from 1856 to 2021, we selected 350 well-described cases of the squamous-papillary type. Clinical presentation, tumor topography, severity of hypothalamic adhesion, patient outcome and tumor recurrence were thoroughly analyzed. Results: PCPs predominantly occur in adult (96.3%), male (61.7%) patients presenting with headache (63.4%), visual alterations (56.2%) and psychiatric disturbances (50.4%). Most PCPs are solid (50%), round (50%) lesions that occupy the third ventricle (3V, 94.8%) and show low-risk severity adhesions to the hypothalamus (66.8%). Two major topographical categories can be found: strictly 3V (57.5%), growing above an intact 3V floor (3VF) and not-strictly or infundibulo-tuberal (32.9%), expanding at the infundibulum and/or tuber cinereum. The hypothalamic syndrome predominated among strictly 3V PCPs (p<0.001). Psychiatric symptoms (p<0.001) and high-risk hypothalamic attachments (p=0.031) related to unfavorable postoperative outcomes among patients treated from 2006 onwards. The not-strictly 3V topography was identified as the major predictor of high-risk hypothalamic attachments (71.2% correctly predicted), which, along with incomplete tumor removal (p=0.018), underlies the higher tumor recurrence of this topography (p=0.001). Conclusions: This systematic review evidences that PCP topography is a major determinant of hypothalamic-related symptoms, type of hypothalamic attachments and tumor recurrence rate. Accurate preoperative definition of PCP-hypothalamus relationships is essential for the judicious, safe management of these complex lesions.

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Section: Discussionsupporting

confidence: 69%

Papillary Craniopharyngioma: A Type of Tumor Primarily Impairing the Hypothalamus – A Comprehensive Anatomo-Clinical Characterization of 350 Well-Described Cases

2021

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Optic tract edema in craniopharyngioma as a predictor of BRAFV600E mutation presence

Taguchi

Kinoshita

Kojima

et al. 2023

Japanese Journal of Clinical Oncology

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Objective the advent of BRAF inhibitors for preoperative treatment of craniopharyngioma has necessitated the identification of BRAFV600E status. Hence, we investigated predictors of BRAFV600E mutation in craniopharyngiomas. Methods this retrospective study utilized data from 30 patients who were newly diagnosed with craniopharyngioma between 2011 and 2021. Magnetic resonance imaging (MRI) and computed tomography were performed within 1 week prior to surgery. Genetic analysis for BRAF mutation was performed using the Oncomine next-generation sequencing panel or Sanger sequencing. The relationship between BRAF mutation and demographic data, endocrinological function and tumour characteristics on imaging was assessed. Results tumour tissue carried the BRAFV600E mutation in nine patients. There was no significant difference in age, sex, or presence of hormonal dysfunction amongst patients with and without the BRAFV600E mutation in the tumour. Most tumours with the BRAFV600E mutation were histologically categorized as papillary craniopharyngioma (P = 0.0005), and were solid (P = 0.0002) and supra-diaphragmatic (P = 0.0033) on MRI. BRAFV600E tumours were more frequently associated with optic tract edema than wild-type tumour s (55.6 vs. 0%, P = 0.0009) and all tumour s with optic tract edema carried the BRAFV600E mutation. Optic tract edema was not associated with tumour volume, cysts, or preoperative pituitary function. Conclusions in craniopharyngiomas, the presence of optic tract edema can predict the presence of BRAFV600E mutation with a positive predictive value of 100%. The finding should be verified in larger prospective cohorts and multivariate regression analysis.

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Papillary Craniopharyngioma in a Young Child: The Importance of BRAF Mutational Testing

Cited by 2 publications

References 7 publications

Papillary Craniopharyngioma: A Type of Tumor Primarily Impairing the Hypothalamus – A Comprehensive Anatomo-Clinical Characterization of 350 Well-Described Cases

Papillary Craniopharyngioma: A Type of Tumor Primarily Impairing the Hypothalamus – A Comprehensive Anatomo-Clinical Characterization of 350 Well-Described Cases

Optic tract edema in craniopharyngioma as a predictor of BRAFV600E mutation presence

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