Neurofibromatosis type 1: A comparison of the 1997 NIH and the 2021 revised diagnostic criteria in 75 children and adolescents.

Autor:	Angelova-Toshkina D; Pediatrics and Adolescent Medicine, Faculty of Medicine, University of Augsburg, Augsburg, Germany., Holzapfel J; Pediatrics and Adolescent Medicine, Faculty of Medicine, University of Augsburg, Augsburg, Germany., Huber S; Pediatrics and Adolescent Medicine, Faculty of Medicine, University of Augsburg, Augsburg, Germany., Schimmel M; Pediatrics and Adolescent Medicine, Faculty of Medicine, University of Augsburg, Augsburg, Germany., Wieczorek D; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany., Gnekow AK; Pediatrics and Adolescent Medicine, Faculty of Medicine, University of Augsburg, Augsburg, Germany., Frühwald MC; Pediatrics and Adolescent Medicine, Faculty of Medicine, University of Augsburg, Augsburg, Germany., Kuhlen M; Pediatrics and Adolescent Medicine, Faculty of Medicine, University of Augsburg, Augsburg, Germany. Electronic address: michaela.kuhlen@uk-augsburg.de.
Jazyk:	angličtina
Zdroj:	Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Sep; Vol. 24 (9), pp. 1978-1985. Date of Electronic Publication: 2022 Jun 17.
DOI:	10.1016/j.gim.2022.05.013
Abstrakt:	Purpose: Examining a cohort of patients suspicious of neurofibromatosis type 1 (NF1) we compared the revised diagnostic criteria with the previous National Institutes of Health (NIH) diagnostic criteria. We asked whether the refinement improved distinguishing between NF1, Legius syndrome, and constitutional mismatch repair deficiency (CMMRD). Methods: A database search in the hospital information system of the University Children's Hospital Augsburg between 2017 and 2020 ascertained patients with International Classification of Diseases-10 code Q85.0; their clinical phenotype was evaluated by retrospective chart review. Results: A total of 75 patients were identified (median age 11.0 years [range 1.1-22.6 years]; 35 female). At first suspicion of NF1, 44 patients met the NIH criteria and 56 met the revised diagnostic criteria. In total, 12 patients were diagnosed with NF1 after performing molecular genetic testing. In 31 patients, only pigmentary findings were present, whereas nonpigmentary NF1 manifestations presented with time in 9 patients. In 1 patient a heterozygous variant of uncertain significance was identified in SPRED1. Requirements for CMMRD testing were fulfilled in another patient. A total of 3 patients presented with segmental clinical findings. Three additional patients did not meet the NIH criteria, 1 of them presented with 1 additional feature of CMMRD without fulfilling requirements for testing. Conclusion: In our pediatric cohort, the revised diagnostic criteria discovered more patients with proven NF1 than the NIH criteria. Competing Interests: Conflict of Interest The authors declare no conflicts of interest. (Copyright © 2022 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.)
Databáze:	MEDLINE
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