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Neurofibromatosis type I (NF1) is an autosomal dominant disease caused by mutations in the NF1 gene, with an estimated incidence of 5 per million in neonates in mainland China [1], and in 2023, NF1 was included in the second batch of rare diseases in mainland China. NF1 patients are more common than infringement, and its clinical manifestations are complex, with café-au-lait spots, axillary or femoral freckles, and plexiform neurofibromas (PN) being common. Studies have shown that the risk of developing high-grade malignant tumors in NF1 patients will increase by 50 times, and the number of survival years will be reduced by an average of 20 years compared with that of healthy people [2].
On April 10, 2024, the "Rare Disease Expert Face-to-Face Exchange Meeting" initiated by the Medical Public Welfare Fund (Medical Fund) of the China Social Assistance Foundation was held online. Professor Wang Guodong of Shandong Provincial Hospital and Professor Zhang Zhen of Shandong Provincial Hospital were invited as keynote speakers.
At the beginning of the conference, Professor Wang Guodong delivered an opening speech, saying that this conference is a special conference on NF1 diagnosis and treatment, and he is very grateful to all colleagues for their participation, and thanks to the platform built by the Medical Public Welfare Fund of the China Social Aid Foundation, so that the participating experts can obtain more knowledge and collide with the spark of thinking. In the first part of the conference, Professor Wang Guodong focused on the multidisciplinary diagnosis and treatment practice of NF1 in Shandong Province, hoping to bring new ideas for NF1 diagnosis and treatment to clinicians through real clinical experience. In the second part of the conference, Professor Zhang Zhen shared his experience in the multidisciplinary diagnosis and treatment of NF1 and the whole life cycle monitoring of NF1 patients, hoping to jointly promote the development of NF1 research and diagnosis and treatment, and make the diagnosis and treatment of NF1 to a higher level in the future.
Figure 1. Professor Wang Guodong delivered a speech
Part 1
The clinical manifestations of NF1 are diverse, and a variety of examination methods are required for diagnosis and follow-up of patients
Prof. Zhen Zhang: The clinical manifestations of NF1 are complex and diverse, and NF1 patients in initial diagnosis and follow-up monitoring should undergo detailed physical examination. If deep lesions such as paraspinal nerve roots, nerve trunks, and plexuses such as neurofibromas are suspected, MRI and CT examinations should be completed to identify the extent of the lesions, and if peripheral nerve involvement is suspected, the patient's nerve ultrasound and electrophysiological examination should be evaluated. For patients with suspected NF1 who have an unclear clinical diagnosis and need further diagnosis or genetic counseling, genetic testing is required to clarify the molecular diagnosis and assist in the formulation of disease management plans, and the preferred scheme for genetic testing of NF1 patients is whole exome sequencing.
Figure 1. Professor Zhang Zhen shared the keynote speech
Part 2
NF1-related medical services in mainland China are limited, and patients are facing difficulties in diagnosis and treatment
Professor Wang Guodong: There are problems in the diagnosis and treatment of NF1 in mainland China, such as low disease awareness, uneven distribution of diagnosis and treatment resources, and limited related medical services, resulting in serious clinical missed diagnosis and misdiagnosis, and patients often need to travel to 3~5 hospitals from the appearance of symptoms to diagnosis, with an average cost of 3~5 years. In addition, there is significant heterogeneity in the treatment of NF1 in mainland China, and the current clinical testing and symptomatic treatment of NF1 are mainly carried out without patients receiving a comprehensive evaluation, developing a follow-up plan, or educating patients about the disease.
Figure 2. Professor Wang Guodong shared the keynote report
Part 3
Establish multidisciplinary diagnosis and treatment, and promote the standardization of NF1 diagnosis and treatment
Prof. Wang Guodong: The Shandong Provincial Multidisciplinary Diagnosis and Treatment (MDT) team was established in February 2023, and by the end of 2023, the NF1 professional group of Shandong Provincial Rare Disease Quality Control Center was established. The MDT team includes neurosurgery, imaging, dermatology, pediatric orthopedics, and other disciplines, which can meet the needs of NF1 patients for complication assessment, treatment plan formulation, and follow-up plan formulation. In order to ensure the efficient operation of the MDT model, the hospital has also set up an NF1 special outpatient clinic to facilitate patients to register for medical treatment without affecting the daily outpatient services of specialists. At the same time, in order to enhance the public's awareness of NF1, the diagnosis and treatment team has carried out NF1 free clinics and communication activities for many times, and spread it with the help of multiple platforms.
Figure 3. Professor Wang Guodong shared the keynote report
Prof. Zhen Zhang: The diagnosis of NF1 is difficult, and it is difficult for a single neurosurgeon to complete the diagnosis and treatment of NF1 independently, so it is often necessary to involve multiple disciplines such as dermatology, surgery, orthopedics, and ophthalmology, and carry out overall assessment, diagnosis, treatment, management, and rehabilitation of the organs involved in the disease. The diagnosis and treatment of PN is one of the typical examples of the application of the MDT model, NF1-PN patients can choose surgical treatment or targeted therapy according to the condition of the tumor and personal wishes, if surgical treatment is performed, because the surgical treatment of the tumor is difficult, the MDT team including ophthalmologists and neurosurgeons need to jointly formulate a surgical plan. In the case of targeted therapy, the MEK inhibitor selumetinib has been marketed in China in 2023 and is a targeted therapy for children aged 3 years and older with symptomatic and inoperable NF1-PN. In 2023, the Multidisciplinary Diagnosis and Treatment Group of Neurofibromatosis Type I of the China Alliance for Rare Diseases released the Guidelines for the Multidisciplinary Diagnosis and Treatment of Neurofibromatosis Type I (2023 Edition) to help the development of the MDT model in the diagnosis and treatment of NF1 in mainland China.
Figure 4: Professor Zhang Zhen shares the keynote speech
Part 4
Full-cycle health monitoring of NF1 patients
Prof. Zhen Zhang: NF1 patients should receive regular health observation and monitoring at all stages, that is, full-cycle health testing. The content of full-cycle health monitoring should include ophthalmology, orthopedics, skin, nerve and other multi-system examinations, and it is recommended that MRI examination be applied to the whole course of NF1 patients. In the early stage of diagnosis of NF1 patients, appropriate types of genetic testing can be selected according to the needs of the patient's condition, and data reanalysis should be carried out at intervals of 2~3 years during the follow-up period if necessary. Prepubertal children should be assessed annually for head circumference, precocious puberty should be monitored annually from age 5 years until pubertal sexual development begins, and children or adolescents with onset should receive developmental and psychological assessments during childhood and adolescence. It is important to emphasize that PN screening and long-term follow-up monitoring should be emphasized in patients with NF1, even if there is no known or visible PN.
Figure 5: Professor Zhang Zhen shares the keynote speech
Summary of the conference
At the end of the conference, Professor Wang Guodong delivered a concluding speech. At present, we need to increase the awareness of NF1 and NF1-PN in society, medical workers, patients and their families, so as to achieve a clear diagnosis to the greatest extent. In terms of treatment, the launch of selumetinib in China has brought a treatment alternative to surgery for children with NF1-PN. In the future, it is necessary for colleagues in the field to work together to allow more NF1 patients to receive effective and standardized treatment, so as to bring the diagnosis and treatment of NF1 to a new level. Thank you again for the opportunity to share your knowledge, and look forward to more opportunities to learn and communicate with your colleagues in the future.
Figure 6: Professor Wang Guodong's concluding speech
Bibliography:
[1] National Database, National Bureau of Statistics. https://data.stats.gov.cn/easyquery.htm?cn=C01&zb
=A0302&sj=2016
[2] Masocco M, Kodra Y, Vichi M,et al. Mortality associated with neurofibromatosis type 1: a study based on Italian death certificates (1995-2006). Orphanet J Rare Dis. 2011 Mar 25;6:11.
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