Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation

• DOI: 10.1016/j.gim.2022.05.007
• Publication Date: 2022-06-09T20:34:08Z
• Authors: Scott R. Plotkin; Ludwine Messiaen; Eric Legius; Patrice Pancza; Robert A. Avery; Jaishri O. Blakeley; Dusica Babovic-Vu...; Rosalie Ferner; Michael J. Fisher; Jan M. Friedman; Marco Giovannini; David H. Gutmann; Clemens Oliver Ha...; Michel Kalamarides; Hildegard Kehrer-...; Bruce R. Korf; Victor-Felix Mautner; Mia MacCollin; Laura Papi; Katherine A. Rauen; Vincent Riccardi; Elizabeth Schorry; Miriam J. Smith; Anat Stemmer-Rach...; David A. Stevenson; Nicole J. Ullrich; David Viskochil; Katharina Wimmer; Kaleb Yohay; Monique Anten; Arthur Aylsworth; Diana Baralle; Sebastien Barbarot; Fred Barker; Shay Ben-Shachar; Amanda Bergner; Didier Bessis; Ignacio Blanco; Catherine Cassiman; Patricia Ciavarelli; Maurizio Clementi; Thierry Frébourg; Alicia Gomes; Dorothy Halliday; Chris Hammond Hel...; Pascal Joly; Justin T. Jordan; Matthias Karajannis; Daniela Kroshinsky; Margarita Larralde; Conxi Lázaro; Lu Le; Michael Link; Robert Listernick; Conor Mallucci; Vanessa L. Merker; Christopher Moertel; Amy Mueller; Joanne Ngeow; Rianne Oostenbrink; Roger Packer; Allyson Parry; Juha Peltonen; Dominique Pichard; Bruce Poppe; Nilton Rezende; Luiz Oswaldo Rodr...; Tena Rosser; Martino Ruggieri; Eduard Serra; Verena Steinke-Lange; Stavros Michael S...; Amy Taylor; Jaan Toelen; James Tonsgard; Eva Trevisson; Meena Upadhyaya; Ali Varan; Meredith Wilson; Hao Wu; Gelareh Zadeh; Susan M. Huson; Pierre Wolkenstein; D. Gareth Evans
• Keywords: Neurofibromatosis 2; Consensus; Neurofibromatosis 1; Skin Neoplasms; Neurofibromatoses; [SDV]Life Sciences [q-bio]; 610; SMARCB1; Neurofibromatoses/diagnosis; Neurofibromatosis 1/genetics; NF2; Neurofibromatosis; SMARCB1; Schwannomatosis; lztr1.; Neurofibromatosis; 03 medical and health sciences; Skin Neoplasms/genetics; Medicine and Health Sciences; Humans; 0303 health sciences; lztr1; Neurofibromatosis; NF2; Schwannomatosis; SMARCB1;; lztr1; ICTS (Institute of Clinical and Translational Sciences); 3. Good health; Schwannomatosis; Neurofibromatosis 2/diagnosis; NF2; Neurilemmoma/diagnosis; Neurilemmoma

Neurofibromatosis type 2 (NF2) and schwannomatosis (SWN) are genetically distinct tumor predisposition syndromes with overlapping phenotypes. We sought to update the diagnostic criteria for NF2 and SWN by incorporating recent advances in genetics, ophthalmology, neuropathology, and neuroimaging.We used a multistep process, beginning with a Delphi method involving global disease experts and subsequently involving non-neurofibromatosis clinical experts, patients, and foundations/patient advocacy groups.We reached consensus on the minimal clinical and genetic criteria for diagnosing NF2 and SWN. These criteria incorporate mosaic forms of these conditions. In addition, we recommend updated nomenclature for these disorders to emphasize their phenotypic overlap and to minimize misdiagnosis with neurofibromatosis type 1.The updated criteria for NF2 and SWN incorporate clinical features and genetic testing, with a focus on using molecular data to differentiate the 2 conditions. It is likely that continued refinement of these new criteria will be necessary as investigators study the diagnostic properties of the revised criteria and identify new genes associated with SWN. In the revised nomenclature, the term "neurofibromatosis 2" has been retired to improve diagnostic specificity.