Literature DB >> 25900292

Primary leptomeningeal melanoma is part of the BAP1-related cancer syndrome.

Arnaud de la Fouchardière1, Odile Cabaret, Justine Pètre, Selda Aydin, Alice Leroy, Patrick de Potter, Daniel Pissaloux, Véronique Haddad, Brigitte Bressac-de Paillerets, Nicolas Janin.   

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Year:  2015        PMID: 25900292     DOI: 10.1007/s00401-015-1423-2

Source DB:  PubMed          Journal:  Acta Neuropathol        ISSN: 0001-6322            Impact factor:   17.088


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  8 in total

Review 1.  Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide.

Authors:  Sebastian Walpole; Antonia L Pritchard; Colleen M Cebulla; Robert Pilarski; Meredith Stautberg; Frederick H Davidorf; Arnaud de la Fouchardière; Odile Cabaret; Lisa Golmard; Dominique Stoppa-Lyonnet; Erin Garfield; Ching-Ni Njauw; Mitchell Cheung; Joni A Turunen; Pauliina Repo; Reetta-Stiina Järvinen; Remco van Doorn; Martine J Jager; Gregorius P M Luyten; Marina Marinkovic; Cindy Chau; Miriam Potrony; Veronica Höiom; Hildur Helgadottir; Lorenza Pastorino; William Bruno; Virginia Andreotti; Bruna Dalmasso; Giulia Ciccarese; Paola Queirolo; Luca Mastracci; Karin Wadt; Jens Folke Kiilgaard; Michael R Speicher; Natasha van Poppelen; Emine Kilic; Rana'a T Al-Jamal; Irma Dianzani; Marta Betti; Carsten Bergmann; Sandro Santagata; Sonika Dahiya; Saleem Taibjee; Jo Burke; Nicola Poplawski; Sally J O'Shea; Julia Newton-Bishop; Julian Adlard; David J Adams; Anne-Marie Lane; Ivana Kim; Sonja Klebe; Hilary Racher; J William Harbour; Michael L Nickerson; Rajmohan Murali; Jane M Palmer; Madeleine Howlie; Judith Symmons; Hayley Hamilton; Sunil Warrier; William Glasson; Peter Johansson; Carla Daniela Robles-Espinoza; Raul Ossio; Annelies de Klein; Susana Puig; Paola Ghiorzo; Maartje Nielsen; Tero T Kivelä; Hensin Tsao; Joseph R Testa; Pedram Gerami; Marc-Henri Stern; Brigitte Bressac-de Paillerets; Mohamed H Abdel-Rahman; Nicholas K Hayward
Journal:  J Natl Cancer Inst       Date:  2018-12-01       Impact factor: 13.506

Review 2.  Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases.

Authors:  K Rai; R Pilarski; C M Cebulla; M H Abdel-Rahman
Journal:  Clin Genet       Date:  2015-07-14       Impact factor: 4.438

Review 3.  Genotypic and Phenotypic Features of BAP1 Cancer Syndrome: A Report of 8 New Families and Review of Cases in the Literature.

Authors:  Alexandra M Haugh; Ching-Ni Njauw; Jeffrey A Bubley; Anna Elisa Verzì; Bin Zhang; Emily Kudalkar; Timothy VandenBoom; Kara Walton; Brian L Swick; Raj Kumar; Huma Q Rana; Sarah Cochrane; Shelley R McCormick; Christopher R Shea; Hensin Tsao; Pedram Gerami
Journal:  JAMA Dermatol       Date:  2017-10-01       Impact factor: 10.282

4.  Germline and somatic BAP1 mutations in high-grade rhabdoid meningiomas.

Authors:  Ganesh M Shankar; Malak Abedalthagafi; Rachael A Vaubel; Parker H Merrill; Naema Nayyar; Corey M Gill; Ryan Brewster; Wenya Linda Bi; Pankaj K Agarwalla; Aaron R Thorner; David A Reardon; Ossama Al-Mefty; Patrick Y Wen; Brian M Alexander; Paul van Hummelen; Tracy T Batchelor; Keith L Ligon; Azra H Ligon; Matthew Meyerson; Ian F Dunn; Rameen Beroukhim; David N Louis; Arie Perry; Scott L Carter; Caterina Giannini; William T Curry; Daniel P Cahill; Frederick G Barker; Priscilla K Brastianos; Sandro Santagata
Journal:  Neuro Oncol       Date:  2017-04-01       Impact factor: 12.300

5.  GNA11 Q209L Mouse Model Reveals RasGRP3 as an Essential Signaling Node in Uveal Melanoma.

Authors:  Amanda R Moore; Leili Ran; Youxin Guan; Jessica J Sher; Tyler D Hitchman; Jenny Q Zhang; Catalina Hwang; Edward G Walzak; Alexander N Shoushtari; Sébastien Monette; Rajmohan Murali; Thomas Wiesner; Klaus G Griewank; Ping Chi; Yu Chen
Journal:  Cell Rep       Date:  2018-02-27       Impact factor: 9.423

6.  Primary meningeal melanoma masquerading as neurofibromatosis type 2: illustrative case.

Authors:  Melanie Lang-Orsini; Julian Wu; Carl B Heilman; Alina Kravtsova; Gene Weinstein; Neel Madan; Knarik Arkun
Journal:  J Neurosurg Case Lessons       Date:  2021-11-15

Review 7.  Biological Mechanisms and Clinical Significance of BAP1 Mutations in Human Cancer.

Authors:  Michele Carbone; J William Harbour; James Brugarolas; Angela Bononi; Ian Pagano; Anwesha Dey; Thomas Krausz; Harvey I Pass; Haining Yang; Giovanni Gaudino
Journal:  Cancer Discov       Date:  2020-07-20       Impact factor: 38.272

8.  SF3B1 and EIF1AX mutations occur in primary leptomeningeal melanocytic neoplasms; yet another similarity to uveal melanomas.

Authors:  Heidi V N Küsters-Vandevelde; David Creytens; Adriana C H van Engen-van Grunsven; Marcel Jeunink; Veronique Winnepenninckx; Patricia J T A Groenen; Benno Küsters; Pieter Wesseling; Willeke A M Blokx; Clemens F M Prinsen
Journal:  Acta Neuropathol Commun       Date:  2016-01-15       Impact factor: 7.801

  8 in total

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