Emanuele La Corte1,2,3, Iyan Younus1, Francesca Pivari1,2, Adelina Selimi1,4, Malte Ottenhausen1,5, Jonathan A Forbes1, David J Pisapia6, Georgiana A Dobri1, Vijay K Anand7, Theodore H Schwartz8,9,10. 1. Department of Neurosurgery, Weill Cornell Medical College, New York-Presbyterian Hospital, 525 East 68th St., Box #99, New York, NY, 10065, USA. 2. Department of Health Sciences, University of Milan, Milan, Italy. 3. Department of Neurosurgery, Foundation IRCCS Neurological Institute "Carlo Besta", Milan, Italy. 4. Department of Medicine, University of Perugia, Perugia, Italy. 5. Department of Neurosurgery, University Mainz, Mainz, Germany. 6. Department of Pathology, Weill Cornell Medical College, New York-Presbyterian Hospital, New York, NY, USA. 7. Department of Otolaryngology, Weill Cornell Medical College, New York-Presbyterian Hospital, New York, NY, USA. 8. Department of Neurosurgery, Weill Cornell Medical College, New York-Presbyterian Hospital, 525 East 68th St., Box #99, New York, NY, 10065, USA. schwarh@med.cornell.edu. 9. Department of Neuroscience, Weill Cornell Medical College, New York-Presbyterian Hospital, New York, NY, USA. schwarh@med.cornell.edu. 10. Department of Otolaryngology, Weill Cornell Medical College, New York-Presbyterian Hospital, New York, NY, USA. schwarh@med.cornell.edu.
Abstract
PURPOSE: To describe the clinical, radiographic and surgical outcomes in a cohort of patients with BRAF V600E mutant papillary craniopharyngiomas. METHODS: A retrospective review was performed to identify all patients with a histological diagnosis of CP operated upon at a single institution between 2005 and 2017. All cases with adequate material were sequenced to confirm the presence of BRAF V600E mutation. RESULTS: Sixteen patients were included in the present study. Approach was endoscopic endonasal (EEA) in 14 and transcranial (TCA) in 2. All patients were adult with an average age of 50 years (24-88). Radiographic review demonstrated that the majority (93.7%) were suprasellar and twelve (75%) had third ventricular involvement. No tumor showed evidence of calcifications and 68.7% were mixed solid-cystic. All patients had some evidence of hypopituitarism and 62.5% had hypothalamic disturbances. GTR was achieved in 11/14 (78.6%) EEA and 0/2 (0%) TCA (p < 0.05). The mean length of stay was 17.5 days in the TCA group and 7.6 days in the EEA group (p < 0.05). There were no CSF leaks. Post-operatively, eleven (68.7%) developed new DI or new hypopituitarism. Nine increased their BMI with a mean increase of 12.3%, whereas six patients lost weight with a mean decrease of 5.3%. CONCLUSIONS: BRAF V600E mutant papillary tumors represent a clearly distinct clinical-pathological entity of craniopharyngiomas. These are generally non-calcified suprasellar tumors that occur in adults. These distinct characteristics may someday lead to upfront chemotherapy. When surgery is necessary, EEA may be preferred over TCA.
PURPOSE: To describe the clinical, radiographic and surgical outcomes in a cohort of patients with BRAFV600E mutant papillary craniopharyngiomas. METHODS: A retrospective review was performed to identify all patients with a histological diagnosis of CP operated upon at a single institution between 2005 and 2017. All cases with adequate material were sequenced to confirm the presence of BRAFV600E mutation. RESULTS: Sixteen patients were included in the present study. Approach was endoscopic endonasal (EEA) in 14 and transcranial (TCA) in 2. All patients were adult with an average age of 50 years (24-88). Radiographic review demonstrated that the majority (93.7%) were suprasellar and twelve (75%) had third ventricular involvement. No tumor showed evidence of calcifications and 68.7% were mixed solid-cystic. All patients had some evidence of hypopituitarism and 62.5% had hypothalamic disturbances. GTR was achieved in 11/14 (78.6%) EEA and 0/2 (0%) TCA (p < 0.05). The mean length of stay was 17.5 days in the TCA group and 7.6 days in the EEA group (p < 0.05). There were no CSF leaks. Post-operatively, eleven (68.7%) developed new DI or new hypopituitarism. Nine increased their BMI with a mean increase of 12.3%, whereas six patients lost weight with a mean decrease of 5.3%. CONCLUSIONS:BRAFV600E mutant papillary tumors represent a clearly distinct clinical-pathological entity of craniopharyngiomas. These are generally non-calcified suprasellar tumors that occur in adults. These distinct characteristics may someday lead to upfront chemotherapy. When surgery is necessary, EEA may be preferred over TCA.
Entities:
Keywords:
BRAF; CTNNB1; Craniopharyngioma; Papillary; Suprasellar; Third ventricle
Authors: Robert T Jones; Malak S Abedalthagafi; Mohan Brahmandam; Edward A Greenfield; Mai P Hoang; David N Louis; Jason L Hornick; Sandro Santagata Journal: Mod Pathol Date: 2014-11-21 Impact factor: 7.842
Authors: Priscilla K Brastianos; Amaro Taylor-Weiner; Peter E Manley; Robert T Jones; Dora Dias-Santagata; Aaron R Thorner; Michael S Lawrence; Fausto J Rodriguez; Lindsay A Bernardo; Laura Schubert; Ashwini Sunkavalli; Nick Shillingford; Monica L Calicchio; Hart G W Lidov; Hala Taha; Maria Martinez-Lage; Mariarita Santi; Phillip B Storm; John Y K Lee; James N Palmer; Nithin D Adappa; R Michael Scott; Ian F Dunn; Edward R Laws; Chip Stewart; Keith L Ligon; Mai P Hoang; Paul Van Hummelen; William C Hahn; David N Louis; Adam C Resnick; Mark W Kieran; Gad Getz; Sandro Santagata Journal: Nat Genet Date: 2014-01-12 Impact factor: 38.330