Diagnosis and management of craniopharyngiomas in the era of genomics and targeted therapy

Martínez-Gutiérrez, Juan Carlos; D’Andrea, Megan R.; Cahill, Daniel P.; Santagata, Sandro; Barker, Fred G.; Brastianos, Priscilla K.

doi:10.3171/2016.9.focus16325

Cited by 38 publications

(29 citation statements)

References 42 publications

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“…In our current era of genomics and molecular targeted therapies, it has been established that the vast majority of adamantinomatous craniopharyngioma and papillary craniopharyngioma present exclusive clonal driver mutations in the CTNNB1 and BRAF genes . The latter is responsible for activation/regulation of mitogen‐activated protein kinase (MAPK) signaling pathways, thus conferring growth advantage through modulation of cell proliferation, differentiation, and cell survival.…”

Section: Intradural Tumorsmentioning

confidence: 99%

ICAR: endoscopic skull‐base surgery

Wang

Zanation

Gardner

et al. 2019

Int Forum Allergy Rhinol

157

279

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Background Endoscopic skull‐base surgery (ESBS) is employed in the management of diverse skull‐base pathologies. Paralleling the increased utilization of ESBS, the literature in this field has expanded rapidly. However, the rarity of these diseases, the inherent challenges of surgical studies, and the continued learning curve in ESBS have resulted in significant variability in the quality of the literature. To consolidate and critically appraise the available literature, experts in skull‐base surgery have produced the International Consensus Statement on Endoscopic Skull‐Base Surgery (ICAR:ESBS). Methods Using previously described methodology, topics spanning the breadth of ESBS were identified and assigned a literature review, evidence‐based review or evidence‐based review with recommendations format. Subsequently, each topic was written and then reviewed by skull‐base surgeons in both neurosurgery and otolaryngology. Following this iterative review process, the ICAR:ESBS document was synthesized and reviewed by all authors for consensus. Results The ICAR:ESBS document addresses the role of ESBS in primary cerebrospinal fluid (CSF) rhinorrhea, intradural tumors, benign skull‐base and orbital pathology, sinonasal malignancies, and clival lesions. Additionally, specific challenges in ESBS including endoscopic reconstruction and complication management were evaluated. Conclusion A critical review of the literature in ESBS demonstrates at least the equivalency of ESBS with alternative approaches in pathologies such as CSF rhinorrhea and pituitary adenoma as well as improved reconstructive techniques in reducing CSF leaks. Evidence‐based recommendations are limited in other pathologies and these significant knowledge gaps call upon the skull‐base community to embrace these opportunities and collaboratively address these shortcomings.

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Section: Intradural Tumorsmentioning

confidence: 99%

ICAR: endoscopic skull‐base surgery

Wang

Zanation

Gardner

et al. 2019

Int Forum Allergy Rhinol

157

279

View full text Add to dashboard Cite

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“…24,25 The most widely observed mutation, CTNNB1, occurs in more than 90% of adamantinomatous craniopharyngiomas, and results in abnormal accumulation of β-catenin, an important player in canonical Wnt signaling pathway and therefore cell differentiation and proliferation. 25,26 This may provide a useful disease marker-inroads are currently being made toward serum-based cell free deoxyribonucleic acid (DNA) assays, which may lead to biopsy-free diagnostic testing-however, β-catenin is a nearly universal player in cellular homeostasis, and the development of specific Wnt pathway inhibitors has been challenging. 24,26 Other studies have demonstrated increased expression of both sonic hedgehog (SHH) and its receptor PTCH1 in adamantinomatous craniopharyngioma, often in patterns correlating with epithelial palisades and co-localizing with β-catenin, indicating a potential autocrine-paracrine mechanism.…”

Section: Transcriptomic Characteristicsmentioning

confidence: 99%

“…25,26 This may provide a useful disease marker-inroads are currently being made toward serum-based cell free deoxyribonucleic acid (DNA) assays, which may lead to biopsy-free diagnostic testing-however, β-catenin is a nearly universal player in cellular homeostasis, and the development of specific Wnt pathway inhibitors has been challenging. 24,26 Other studies have demonstrated increased expression of both sonic hedgehog (SHH) and its receptor PTCH1 in adamantinomatous craniopharyngioma, often in patterns correlating with epithelial palisades and co-localizing with β-catenin, indicating a potential autocrine-paracrine mechanism. 26 Vismodegib is a smoothened inhibitor that acts on the SHH pathway and is FDA approved for the treatment of basalcell carcinoma, as well as undergoing active clinical trials in pediatric medulloblastoma.…”

Section: Transcriptomic Characteristicsmentioning

confidence: 99%

“…24,26 Other studies have demonstrated increased expression of both sonic hedgehog (SHH) and its receptor PTCH1 in adamantinomatous craniopharyngioma, often in patterns correlating with epithelial palisades and co-localizing with β-catenin, indicating a potential autocrine-paracrine mechanism. 26 Vismodegib is a smoothened inhibitor that acts on the SHH pathway and is FDA approved for the treatment of basalcell carcinoma, as well as undergoing active clinical trials in pediatric medulloblastoma. 27 Pending their results, as well as those of ongoing preclinical animal studies, it may present a promising avenue for targeted therapy in adamantinomatous craniopharyngioma.…”

Section: Transcriptomic Characteristicsmentioning

confidence: 99%

“…27 Pending their results, as well as those of ongoing preclinical animal studies, it may present a promising avenue for targeted therapy in adamantinomatous craniopharyngioma. 24,26 Still other investigations have highlighted epidermal growth factor receptor (EGFR) abnormalities as potentially important to tumorigenesis. EGF pathway gene activation has been demonstrated in the adamantinomatous craniopharyngioma transcriptome, as has augmented EGFR nuclear colocalization with β-catenin the infiltrating tumor border-where Wnt activity is similarly increased, collectively stimulating abnormal cell growth and migration.…”

Section: Transcriptomic Characteristicsmentioning

confidence: 99%

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Pediatric Craniopharyngiomas: A Primer for the Skull Base Surgeon

et al. 2018

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Pediatric craniopharyngioma is a rare sellar-region epithelial tumor that, in spite of its typically benign pathology, has the potential to be clinically devastating, and presents a host of formidable management challenges for the skull base surgeon. Strategies in craniopharyngioma care have been the cause of considerable controversy, with respect to both philosophical and technical issues. Key questions remain unresolved, and include optimizing extent-of-resection goals; the ideal radiation modality and its role as an alternative, adjuvant, or salvage treatment; appropriate indications for expanded endoscopic endonasal surgery as an alternative to transcranial microsurgery; risks and benefits of skull base techniques in a pediatric population; benefits of and indications for intracavitary therapies; and the preferred management of common treatment complications. Correspondingly, we sought to review the preceding basic science and clinical outcomes literature on pediatric craniopharyngioma, so as to synthesize overarching recommendations, highlight major points of evidence and their conflicts, and assemble a general algorithm for skull base surgeons to use in tailoring treatment plans to the individual patient, tumor, and clinical course. In general terms, we concluded that safe, maximal, hypothalamic-sparing resection provides very good tumor control while minimizing severe deficits. Endoscopic endonasal, intraventricular, and transcranial skull base technique all have clear roles in the armamentarium, alongside standard craniotomies; these roles frequently overlap, and may be further optimized by using the approaches in adaptive combinations. Where aggressive subtotal resection is achieved, patients should be closely followed, with radiation initiated at the time of progression or recurrence-ideally via proton beam therapy, although three-dimensional conformal radiotherapy, intensity-modulated radiotherapy, and stereotactic radiosurgery are very appropriate in a range of circumstances, governed by access, patient age, disease architecture, and character of the recurrence. Perhaps most importantly, outcomes appear to be optimized by consolidated, multidisciplinary care. As such, we recommend treatment in highly experienced centers wherever possible, and emphasize the importance of longitudinal follow-up-particularly given the high incidence of recurrences and complications in a benign disease that effects a young patient population at risk of severe morbidity from hypothalamic or pituitary injury in childhood.

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