Gianluca Marucci1, Dario de Biase2, Matteo Zoli3, Marco Faustini-Fustini4, Antonella Bacci5, Ernesto Pasquini6, Michela Visani7, Diego Mazzatenta3, Giorgio Frank3, Giovanni Tallini2. 1. Department of Biomedical and NeuroMotor Sciences (DiBiNeM), Anatomic Pathology, Bellaria Hospital, University of Bologna, Bologna, Italy. gianluca.marucci@ausl.bologna.it. 2. Department of Experimental, Diagnostic and Specialty Medicine - DIMES, Anatomic Pathology, Bellaria Hospital, University of Bologna, Bologna, Italy. 3. Center of Surgery for Pituitary Tumors and Endoscopic Skull Base Surgery, Bologna, Italy. 4. IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy. 5. Department of Neuroradiology, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy. 6. ENT Department, Azienda USL, Bologna, Italy. 7. Department of Pharmacy and Biotechnology (FaBiT), University of Bologna, Molecular Biology Unit, Bellaria Hospital, Bologna, Italy.
Abstract
PURPOSE: To assess the role of high sensitivity next-generation sequencing (NGS) of CTNNB1 for the diagnosis of adamantinomatous craniopharyngiomas (aCPs) and of BRAF for that of papillary CPs (pCPs) in routinely processed surgical samples of non-adenomatous sellar lesions. METHODS: Forty-five cases of patients operated for non-adenomatous masses of the sellar region between 2004 and 2014 were retrieved from the files of the Anatomic Pathology unit of the Bellaria Hospital in Bologna, Italy. BRAF and CTNNB1 mutation status was analyzed by NGS in samples smaller than 1 cm(3) and histological re-evaluation was performed on all cases. RESULTS: CTNNB1 mutation analysis showed a sensitivity of 86.7 % and a specificity of 96.2 % for the diagnosis of aCPs. The specificity increased to 100 % considering that in one case, initially classified as a non-CP lesion (xanthogranuloma), the identification of a CTNNB1 S47R lead to histological re-evaluation and reclassification of the lesion as aCP. BRAF mutation analysis had a sensitivity of 76.9 % and a specificity of 96.4 % for the diagnosis of pCPs. The specificity increased to 100 % considering that in one case, initially classified as a Rathke cyst, the identification of BRAF V600E lead to histological re-evaluation and reclassification of the lesion as pCP. CONCLUSIONS: This study confirms the diagnostic relevance of the molecular alterations recently identified in aCPs and pCPs and shows how the identification of BRAF and CTNNB1 mutations can be instrumental for the proper classification of samples that contain limiting amounts of diagnostic lesional tissue.
PURPOSE: To assess the role of high sensitivity next-generation sequencing (NGS) of CTNNB1 for the diagnosis of adamantinomatous craniopharyngiomas (aCPs) and of BRAF for that of papillary CPs (pCPs) in routinely processed surgical samples of non-adenomatous sellar lesions. METHODS: Forty-five cases of patients operated for non-adenomatous masses of the sellar region between 2004 and 2014 were retrieved from the files of the Anatomic Pathology unit of the Bellaria Hospital in Bologna, Italy. BRAF and CTNNB1 mutation status was analyzed by NGS in samples smaller than 1 cm(3) and histological re-evaluation was performed on all cases. RESULTS:CTNNB1 mutation analysis showed a sensitivity of 86.7 % and a specificity of 96.2 % for the diagnosis of aCPs. The specificity increased to 100 % considering that in one case, initially classified as a non-CP lesion (xanthogranuloma), the identification of a CTNNB1S47R lead to histological re-evaluation and reclassification of the lesion as aCP. BRAF mutation analysis had a sensitivity of 76.9 % and a specificity of 96.4 % for the diagnosis of pCPs. The specificity increased to 100 % considering that in one case, initially classified as a Rathke cyst, the identification of BRAFV600E lead to histological re-evaluation and reclassification of the lesion as pCP. CONCLUSIONS: This study confirms the diagnostic relevance of the molecular alterations recently identified in aCPs and pCPs and shows how the identification of BRAF and CTNNB1 mutations can be instrumental for the proper classification of samples that contain limiting amounts of diagnostic lesional tissue.
Authors: David N Louis; Arie Perry; Guido Reifenberger; Andreas von Deimling; Dominique Figarella-Branger; Webster K Cavenee; Hiroko Ohgaki; Otmar D Wiestler; Paul Kleihues; David W Ellison Journal: Acta Neuropathol Date: 2016-05-09 Impact factor: 17.088
Authors: Rolf Buslei; Michael Nolde; Bernd Hofmann; Stephan Meissner; Ilker Y Eyupoglu; Florian Siebzehnrübl; Eric Hahnen; Jürgen Kreutzer; Rudolf Fahlbusch Journal: Acta Neuropathol Date: 2005-05-13 Impact factor: 17.088
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: Bernd M Hofmann; Jürgen Kreutzer; Wolfgang Saeger; Michael Buchfelder; Ingmar Blümcke; Rudolf Fahlbusch; Rolf Buslei Journal: Am J Surg Pathol Date: 2006-12 Impact factor: 6.394
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
Authors: Craig Horbinski; Keith L Ligon; Priscilla Brastianos; Jason T Huse; Monica Venere; Susan Chang; Jan Buckner; Timothy Cloughesy; Robert B Jenkins; Caterina Giannini; Roger Stupp; L Burt Nabors; Patrick Y Wen; Kenneth J Aldape; Rimas V Lukas; Evanthia Galanis; Charles G Eberhart; Daniel J Brat; Jann N Sarkaria Journal: Neuro Oncol Date: 2019-12-17 Impact factor: 12.300
Authors: Emanuele La Corte; Iyan Younus; Francesca Pivari; Adelina Selimi; Malte Ottenhausen; Jonathan A Forbes; David J Pisapia; Georgiana A Dobri; Vijay K Anand; Theodore H Schwartz Journal: Pituitary Date: 2018-12 Impact factor: 4.107
Authors: R Borrill; E Cheesman; S Stivaros; I D Kamaly-Asl; K Gnanalingham; John-Paul Kilday Journal: Childs Nerv Syst Date: 2018-08-01 Impact factor: 1.475
Authors: Raid A Jastania; Muhammad Saeed; Hisham Al-Khalidi; Khalid AlQuthami; Tahani H Nageeti; Faisal A Al-Allaf; Kristoffer Valerie; Mohiuddin M Taher Journal: Int Med Case Rep J Date: 2020-04-21
Authors: Cynthia Kassab; Daniel Zamler; Carlos Kamiya-Matsuoka; Zoran Gatalica; Joanne Xiu; David Spetzler; Amy B Heimberger Journal: Clin Oncol Res Date: 2019-06-27