Details

Autor(en) / Beteiligte

• Bergqvist, C.
• Fertitta, L.
• Ezzedine, K.
• Jannic, A.
• Zehou, O.
• Ferkal, S.
• Combemale, P.
• Barbarot, S.
• Mazereeuw‐Hautier, J.
• Sbidian, E.
• Wolkenstein, P.
• Adamski, Henri
• Baumann‐Morel, Clarisse
• Bellanné, Christine
• Bieth, Eric
• Bousquet, Pascal
• Brandt, Christian
• Balguerie, Xavier
• Castelnau, Pierre
• Chaix, Yves
• Chevrant‐Breton, Jacqueline
• Collet, Evelyne
• Cuny, Jean‐François
• Chastagner, Pascal
• Chandeclerc, Marie‐Lorraine
• Cheuret, Emmanuel
• Cintas, Pascal
• Dollfus, Helene
• Derancourt, Christian
• Drouin‐Garraud, Valérie
• d'Incan, Michel
• De Leersnyder, Hélène
• Dereure, Olivier
• Doumar, Diane
• Fabre, Nicolas
• Ferraro, Vincenza
• Francannet, Christine
• Faivre, Laurence
• Fellmann, Florence
• Feugier, Nathalie
• Gaillard, Dominique
• Goldenberg, Alice
• Guyant‐Marechal, Lucie
• Guillot, Bernard
• Guillamo, Jean‐Sebastien
• Hadj‐Rabia, Smaïl
• Hamel‐Teillac, Dominique
• Kemlin, Isabelle
• Lacour, Jean‐Philippe
• Laithier, Veronique
• Lesavre, Nathalie
• Lyonnet, Stanislas
• Maincent, Kim
• Maradeix, Sophie
• Machet, Laurent
• Mansat, Eva
• Meyer, Nicolas
• Mozelle, Monique
• Celine Moret, Jean Christophe Moreno
• Puzenat, Eric
• Parfait, Béatrice
• Pinson, Stéphane
• Pasmant, Eric
• Rodriguez, Diana
• Stalder, Jean‐François
• Schweitzer, Elisabeth
• Thalamas, Claire
• Thauvin, Christel
• Vidaud, Dominique
• Vidaud, Michel
• Verloes, Alain
• Zeller, Jacques

Titel

Identification of three clinical neurofibromatosis 1 subtypes: Latent class analysis of a series of 1351 patients

Ist Teil von

• Journal of the European Academy of Dermatology and Venereology, 2022-05, Vol.36 (5), p.739-743

Ort / Verlag

England: Wiley

Erscheinungsjahr

2022

Quelle

MEDLINE

Beschreibungen/Notizen

• Background Neurofibromatosis 1 (NF1) is one of the most common inherited disorders characterized by mutations in the tumour suppressor gene NF1. Its clinical manifestations are highly variable and unpredictable. A specific NF1 mutation does not predict the severity or complications of the disease. Objective The objective of this study was to build an empirical classification scheme without any a priori hypotheses to identify the underlying NF1 subtypes that best explain the observed heterogeneity. Methods We performed latent class analysis (LCA) of 1351 consecutive NF1 patients aged >17 years seen between 2002 and 2014. Data and phenotypic features were collected prospectively on a standardized form. Results The median age was 36.8 (17–81) years. A three‐class model showed the best fit: 706 (52%) belonged to the LC1 ‘Cutaneous neurofibromas’ class having preferentially cutaneous neurofibromas (99%), plexiform neurofibromas (63%) and blue‐red macules (29%); 593 (44%) belonged to the LC2 ‘Subcutaneous neurofibromas’ class characterized by the presence of at least 10 subcutaneous neurofibromas (21%) and a familial form (77%) and 52 (4%) belonged to the LC3 ‘Dysmorphic phenotype’ class characterized by dysmorphic features (78%) and learning difficulties (87%). Patients in LC1 had a higher likelihood of developing scoliosis (RR = 1.7, 95% confidence interval (CI) [1.2–2.4]). Patients in LC2 were more likely to be men (RR = 1.4, 95% CI [1.1–1.7]). Patients in LC3 were at higher risk of having an optic pathway glioma (RR = 4.8, 95% CI [1.9–11.8]) and epilepsy (RR = 4.5, 95% CI [1.8–11.6]). Conclusion Our findings invite the performance of a larger cohort study to test whether the various latent classes reflect different underlying genetic modifiers of these phenotypic traits.