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      Current concepts of neurofibromatosis type 1: pathophysiology and treatment

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          Abstract

          Neurofibromatosis type 1 is the most common tumor predisposition syndrome inherited in an autosomal dominant (100% penetrance) fashion with a wide variety of expressivity. From the perspective of plastic surgery, the most significant clinical symptoms, including disfiguration, peripheral neurologic symptoms, and skeletal abnormalities, are caused by various tumors originating from the affected nerves. Surgical removal is the standard of care for these tumors. However, the outcome is frequently unsatisfactory, facilitating the search for additional therapeutic adjuvants. Current trials of molecularly targeted therapies are promising.

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          Selumetinib in Children with Inoperable Plexiform Neurofibromas

          Andrea Gross, Pamela L Wolters, Eva Dombi … (2020)
          No approved therapies exist for inoperable plexiform neurofibromas in patients with neurofibromatosis type 1. We conducted an open-label, phase 2 trial of selumetinib to determine the objective response rate among patients with plexiform neurofibromas and to assess clinical benefit. Children with neurofibromatosis type 1 and symptomatic inoperable plexiform neurofibromas received oral selumetinib twice daily at a dose of 25 mg per square meter of body-surface area on a continuous dosing schedule (28-day cycles). Volumetric magnetic resonance imaging and clinical outcome assessments (pain, quality of life, disfigurement, and function) were performed at least every four cycles. Children rated tumor pain intensity on a scale from 0 (no pain) to 10 (worst pain imaginable). A total of 50 children (median age, 10.2 years; range, 3.5 to 17.4) were enrolled from August 2015 through August 2016. The most frequent neurofibroma-related symptoms were disfigurement (44 patients), motor dysfunction (33), and pain (26). A total of 35 patients (70%) had a confirmed partial response as of March 29, 2019, and 28 of these patients had a durable response (lasting ≥1 year). After 1 year of treatment, the mean decrease in child-reported tumor pain-intensity scores was 2 points, considered a clinically meaningful improvement. In addition, clinically meaningful improvements were seen in child-reported and parent-reported interference of pain in daily functioning (38% and 50%, respectively) and overall health-related quality of life (48% and 58%, respectively) as well as in functional outcomes of strength (56% of patients) and range of motion (38% of patients). Five patients discontinued treatment because of toxic effects possibly related to selumetinib, and 6 patients had disease progression. The most frequent toxic effects were nausea, vomiting, or diarrhea; an asymptomatic increase in the creatine phosphokinase level; acneiform rash; and paronychia. In this phase 2 trial, most children with neurofibromatosis type 1 and inoperable plexiform neurofibromas had durable tumor shrinkage and clinical benefit from selumetinib. (Funded by the Intramural Research Program of the National Institutes of Health and others; ClinicalTrials.gov number, NCT01362803 .)
          Article 0 comments Cited 171 times – based on 0 reviews     Review now
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            Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service.

            Neil T. Clancy, C Giblin, F Lalloo … (2010)
            Autosomal dominantly inherited tumor-prone syndromes are a substantial health problem and are amenable to epidemiologic studies by combining cancer surveillance registries with a genetic register (GR)-based approach. Knowledge of the frequency of the conditions provides a basis for appropriate health-resources allocations. GRs for five tumor-prone syndromes were established in the Manchester region of North West England in 1989 and 1990. Mapping birth dates of affected individuals from families onto regional birth rates has allowed an estimate of birth incidence, disease prevalence, and de novo mutation rates. Disease prevalence in order of frequency were for neurofibromatosis type 1 (NF1): 1 in 4,560; familial adenomatous polyposis (FAP): 1 in 18,976; nevoid basal cell carcinoma [Gorlin syndrome (GS)]: 1 in 30,827; neurofibromatosis type 2 (NF2) 1 in 56,161; and von Hippel Lindau (VHL) 1 in 91,111. Best estimates for birth incidence were: 1 in 2,699; 1 in 8,619; 1 in 14,963, 1 in 33,000; and 1 in 42,987, respectively. The proportions due to de novo mutation were: 42% (NF1); 16% (FAP); 26% (GS); 56% (NF2); and 21% (VHL). Estimates for NF1, NF2, FAP, and VHL are in line with previous estimates, and we provide the first estimates of birth incidence and de novo mutation rate for GS. Copyright 2010 Wiley-Liss, Inc.
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              Distinctive Cancer Associations in Patients With Neurofibromatosis Type 1.

              Elina Uusitalo, Matti Rantanen, Roope A Kallionpää … (2016)
              The current study was designed to determine the risk of cancer in patients with neurofibromatosis type 1 (NF1) by cancer type, age, and sex with unprecedented accuracy to be achieved by combining two total population-based registers.
              Article 0 comments Cited 129 times – based on 0 reviews     Review now
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                Author and article information

                Journal
                Journal ID (nlm-ta): Arch Craniofac Surg
                Journal ID (iso-abbrev): Arch Craniofac Surg
                Journal ID (publisher-id): ACFS
                Title: Archives of Craniofacial Surgery
                Publisher: Korean Cleft Palate-Craniofacial Association
                ISSN (Print): 2287-1152
                ISSN (Electronic): 2287-5603
                Publication date (Print): February 2022
                Publication date (Electronic): 20 February 2022
                Volume: 23
                Issue: 1
                Pages: 6-16
                Affiliations
                [1 ]Department of Plastic and Reconstructive Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
                [2 ]Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Seoul, Korea
                Author notes
                Correspondence: So Young Lim Department of Plastic and Reconstructive Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul 06351, Korea E-mail: sy00.lim@ 123456samsung.com
                Author information
                http://orcid.org/0000-0001-9649-3724
                http://orcid.org/0000-0003-3065-7727
                http://orcid.org/0000-0002-8537-0507
                Article
                Publisher ID: acfs-2022-00633
                DOI: 10.7181/acfs.2022.00633
                PMC ID: 8901593
                PubMed ID: 35255591
                SO-VID: 5e6d2ab6-0b78-45b9-82ff-cee5323f5544
                Copyright © Copyright © 2022 Korean Cleft Palate-Craniofacial Association
                License:

                This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 8 February 2022
                Date revision received : 8 February 2022
                Date accepted : 18 February 2022
                Categories
                Subject: Review Article

                Keywords: neurofibroma,neurofibromatoses,physiopathology
                Data availability:
                Keywords: neurofibroma, neurofibromatoses, physiopathology

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