Clinical characteristics predicting internal neurofibromas in 357 children with neurofibromatosis-1: results from a cross-selectional study.

Emilie Sbidian; Smaïl Hadj-Rabia; Vincent Riccardi; Laurence Valeyrie-Allanore; Sébastien Barbarot; Olivier Chosidow; Salah Ferkal; Diana Rodriguez; Pierre Wolkenstein; Sylvie Bastuji-Garin

inserm-00748122, version 1

Clinical characteristics predicting internal neurofibromas in 357 children with neurofibromatosis-1: results from a cross-selectional study.
Sbidian E., Hadj-Rabia S., Riccardi V., Valeyrie-Allanore L., Barbarot S., Chosidow O., Ferkal S., Rodriguez D., Wolkenstein P., Bastuji-Garin S.
Orphanet Journal of Rare Diseases 7, 1 (2012) 62 - http://www.hal.inserm.fr/inserm-00748122

PMID: identifiant
de la référence Pubmed :

(22943186)

titre :

Clinical characteristics predicting internal neurofibromas in 357 children with neurofibromatosis-1: results from a cross-selectional study.

auteur(s) :

Emilie Sbidian^{1, 2, 3}, Smaïl Hadj-Rabia⁴, Vincent Riccardi⁵, Laurence Valeyrie-Allanore^{1, 2, 6}, Sébastien Barbarot⁷, Olivier Chosidow², Salah Ferkal^{6, 8}, Diana Rodriguez⁹, Pierre Wolkenstein^{1, 2, 6}, Sylvie Bastuji-Garin (

) ^{1, 3, 6, 10, 11}

laboratoire :

1 :	LIC - Laboratoire d'Investigation Clinique

Université Paris-Est Créteil Val-de-Marne (UPEC) : EA4393

Service de santé publique CHU Henri Mondor 94010 Créteil Cedex

France

2 :	Service de Dermatologie

Hôpital Henri-Mondor – Assistance publique - Hôpitaux de Paris (AP-HP)

51 Avenue du Maréchal de Lattre de Tassigny 94010 Créteil

France

3 :	Pôle Recherche Clinique-Santé Publique

Hôpital Henri-Mondor – Assistance publique - Hôpitaux de Paris (AP-HP)

51 Avenue du Maréchal de Lattre de Tassigny 94010 Créteil

France

4 :	Service de Dermatologie

Hôpital Necker - Enfants Malades – Assistance publique - Hôpitaux de Paris (AP-HP) – Centre de Référence des Maladies Génétiques à Expression Cutanée (MAGEC) – Université Paris V - Paris Descartes

149 Rue de Sèvres 75015 Paris

France

5 :	Internal Medicine, Clinical Genetics & Clinical Cytogenetics

The Neurofibromatosis Institute

5415 Briggs Avenue, La Crescenta, California 91214-2505

États-Unis

6 :	Centre de référence des Neurofibromatoses - Ile-de-France

Hôpital Henri Mondor – Assistance publique - Hôpitaux de Paris (AP-HP)

51, av du Maréchal de Lattre de Tassigny 94010 Créteil cedex

France

7 :	Service de Dermatologie

CHU Hotel Dieu

1 Place Alexis Ricordeau 44093 Nantes

France

8 :	CIC - Centre d'Investigation Clinique

INSERM : CIC006 – Université Paris-Est Créteil Val-de-Marne (UPEC)

51 Avenue du Maréchal de Lattre de Tassigny 94010 Créteil

France

9 :	Service de Neuropédiatrie

Hôpital Trousseau – Assistance publique - Hôpitaux de Paris (AP-HP) – Université Pierre et Marie Curie [UPMC] - Paris VI

26 Avenue du Docteur Arnold Netter 75012 Paris

France

10 :	URC - Unité de Recherche Clinique

Hôpital Henri-Mondor – Assistance publique - Hôpitaux de Paris (AP-HP)

51 Avenue du Maréchal de Lattre de Tassigny 94010 Créteil

France

11 :	Service de Santé Publique

Hôpital Henri-Mondor – Assistance publique - Hôpitaux de Paris (AP-HP)

51 Avenue du Maréchal de Lattre de Tassigny 94010 Créteil

France

résumé :

UNLABELLED: ABSTRACT: OBJECTIVE: To identify clinical characteristics associated with internal neurofibromas in children with NF1, as a means of ensuring the early identification of patients at high risk for malignant peripheral nerve-sheath tumors developed from preexisting internal neurofibromas. PATIENTS AND METHODS: We used data from two NF1 populations, in France and North America, respectively. The French database comprised 1083 patients meeting NIH diagnostic criteria for NF1 and the Neurofibromatosis Institute Database of North America comprised 703 patients. Patients younger than 17 years of age were eligible for our study if they had been evaluated for internal neurofibromas using computed tomography and/or magnetic resonance imaging. Clinical characteristics associated with internal neurofibromas by univariate analysis (P ≤ 0.15) were entered into a multiple logistic regression model after checking for potential interactions and confounding. Multiple imputation was used for missing values. RESULTS: Among the 746 children in the two databases, 357 (48%) met our inclusion criteria. Their mean age was 7.7 ± 5.0 years and there were 192 (53.8%) males. Internal neurofibromas were present in 35 (9.8%) patients. Internal neurofibromas developed earlier in females than in males and their prevalence increased during adolescence. Factors independently associated with internal neurofibromas were age (OR = 1.16 [1.07-1.27]), xanthogranulomas (OR = 5.85 [2.18-15.89]) and presence of both subcutaneous and plexiform neurofibromas (OR = 6.80 [1.52-30.44]). CONCLUSIONS: Several easily recognizable clinical characteristics indicate a high risk of internal neurofibromas in children with NF1 and, therefore, a need for very close monitoring.

domaine :

Sciences du Vivant/Génétique

langue du texte
intégral :

Anglais

ISSN :

1750-1172

type de publication :

Articles dans des revues avec comité de lecture

DOI :

10.1186/1750-1172-7-62

journal :

Orphanet Journal of Rare Diseases
Publisher	BioMed Central
ISSN	1750-1172

Audience :

internationale

date de publication :

2012

date de publication
électronique :

03/09/2012

volume :

numéro :

page, identifiant, ... :

mots-clés auteur :

Neurofibromatosis 1 – Internal neurofibromas – Subcutaneous neurofibromas – Children – Cross-sectional study

contrat, financement :

Grant from the programme hospitalier de recherche clinique (PHRC, AOM 02108/P 020906), French Ministry of Health

Liste des fichiers attachés à ce document :

PDF

1750-1172-7-62.pdf

(273.4 KB)

ANNEX

1750-1172-7-62.xml

(73.2 KB)


inserm-00748122, version 1
http://www.hal.inserm.fr/inserm-00748122
oai:www.hal.inserm.fr:inserm-00748122
Contributeur : Ed. BMC <>
Soumis le : Dimanche 4 Novembre 2012, 17:03:54
Dernière modification le : Mardi 6 Novembre 2012, 15:05:03