Role, function and challenges of multidisciplinary centres for rare diseases exemplified for neurofibromatosis type 1 syndrome

Toledano‐Alhadef, Hagit; Mautner, Victor‐Felix; Gugel, Isabel; Zipfel, Julian; Haas-Lude, Karin; Constantini, Shlomi; Schuhmann, Martín U.

doi:10.1007/s00381-020-04708-1

Cited by 10 publications

(8 citation statements)

References 21 publications

(22 reference statements)

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“…Peripheral nerve sheath tumors present in a vast spectrum of localizations and clinical appearances. Interdisciplinary teams are not only best prepared to manage the known multiple aspects of neurocutaneous syndromes [ 18 ] but also to address peripheral nerve tumors not associated with a neurocutaneous syndrome and all possible manifestations in the different body regions.…”

Section: Discussionmentioning

confidence: 99%

Surgical Management of Sporadic Peripheral Nerve Schwannomas in Adults: Indications and Outcome in a Single Center Cohort

Zipfel¹,

Al-Hariri

Gugel³

et al. 2021

Cancers

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Most sporadic peripheral nerve sheath tumors in adults are schwannomas. These tumors usually present with significant pain but can also cause neurological deficits. Symptomatology is diverse, and successful surgical interventions demand interdisciplinarity. We retrospectively reviewed 414 patients treated between 2006 and 2017 for peripheral nerve sheath tumors. We analyzed clinical signs, symptoms, histology, and neurological function in the cohort of adult patients with schwannomas without a neurocutaneous syndrome. In 144 patients, 147 surgical interventions were performed. Mean follow-up was 3.1 years. The indication for surgery was pain (66.0%), neurological deficits (23.8%), significant tumor growth (8.8%), and suspected malignancy (1.4%). Complete tumor resection was achieved on 136/147 occasions (92.5%). The most common location of the tumors was intraspinal (49.0%), within the cervical neurovascular bundles (19.7%), and lower extremities (10.9%). Pain and neurological deficits improved significantly (p ≤ 0.003) after 131/147 interventions (89.1%). One patient had a persistent decrease in motor function after surgery. Complete resection was possible in 67% of recurrent tumors, compared to 94% of primary tumors. There was a significantly lower chance of complete resection for schwannomas of the cervical neurovascular bundle as compared to other locations. The surgical outcome of sporadic schwannoma surgery within the peripheral nervous system is very favorable in experienced peripheral nerve surgery centers. Surgery is safe and effective and needs a multidisciplinary setting. Early surgical resection in adult patients with peripheral nerve sheath tumors with significant growth, pain, neurological deficit, or suspected malignancy is thus recommended.

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Section: Discussionmentioning

confidence: 99%

Surgical Management of Sporadic Peripheral Nerve Schwannomas in Adults: Indications and Outcome in a Single Center Cohort

Zipfel¹,

Al-Hariri

Gugel³

et al. 2021

Cancers

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“…It is recommended that all cases should be considered by the paediatric neuro-ophthalmic and neuro-oncology multidisciplinary team and to these should now be added neuroendocrine and neurodevelopmental expertise (14). A key element of the clinical consideration is the role of neurosurgery for biopsy, management of raised intra-cranial pressure and consideration of tumor debulking (see below).…”

Section: Multi-disciplinary Team Assessmentmentioning

confidence: 99%

“…and neurological/ neurodevelopmental toxicity (14) and should be followed by targeted rehabilitation.…”

Section: Author Contributionsmentioning

confidence: 99%

A new era for optic pathway glioma: A developmental brain tumor with life-long health consequences

et al. 2023

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Optic pathway and hypothalamic glioma (OPHG) are low-grade brain tumors that arise from any part of the visual pathways frequently involving the hypothalamus. The tumors grow slowly and present with features driven by their precise anatomical site, their age at presentation and the stage of growth and development of the host neural and orbital bony tissues. Up to 50% of optic pathway glioma arise in association with Neurofibromatosis type 1 (NF1), which affects 1 in 3,000 births and is a cancer predisposition syndrome. As low-grade tumors, they almost never transform to malignant glioma yet they can threaten life when they present under two years of age. The main risks are to threaten vision loss by progressive tumor damage to optic pathways; furthermore, invasion of the hypothalamus can lead to diencephalic syndrome in infancy and hypopituitarism later in life. Progressive cognitive and behavioural dysfunction can occur, as part of NF1 syndromic features and in sporadic cases where large bulky tumors compress adjacent structures and disrupt neuro-hypothalamic pathways. Persistently progressive tumors require repeated treatments to attempt to control vision loss, other focal brain injury or endocrine dysfunction. In contrast tumors presenting later in childhood can be seen to spontaneously arrest in growth and subsequently progress after periods of stability. These patterns are influenced by NF status as well as stages of growth and development of host tissues. The past two decades has seen an expansion in our understanding and knowledge of the clinical and scientific features of these tumors, their modes of presentation, the need for careful visual and endocrine assessment. This influences the decision-making surrounding clinical management with surgery, radiotherapy, chemotherapy and most recently, the potential benefit of molecularly targeted drug therapy. This article, based upon the authors' clinical and research experience and the published literature will highlight advances in approach to diagnosis, the established role of vision loss as justification of treatments and the emerging evidence of endocrine and neurological consequences that need to be incorporated into judgements for case selection for therapy or observation. Consideration is given to the current state of biological evidence justifying current trials of new therapies, the genetic studies of the NF1 gene and the potential for new approaches to OPHG detection and treatment. The outstanding health system priorities from the perspective of children, their parents and health system commissioners or insurers are discussed.

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“…This method implements the patient's family in treatment and has been proven effective in improving healthcare services, particularly in treating chronic conditions in the pediatric and adolescent populations. 41 Multidisciplinary clinics have also been shown to improve patient satisfaction and patient outcomes. 42…”

Section: Social Supportmentioning

confidence: 99%

Multidisciplinary neurocutaneous syndrome clinics: a systematic review and institutional experience

Grossen

Gavula

Chrusciel

et al. 2022

Neurosurgical Focus

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OBJECTIVE Neurocutaneous syndromes have variable multisystem involvement. The multiorgan involvement, potential pathologies, and various treatment options necessitate collaboration and open discussion to ensure optimal treatment in any given patient. These disorders provide quintessential examples of chronic medical conditions that require a lifelong, multidisciplinary approach. The objectives of this study were to 1) perform a systematic review, thoroughly assessing different multidisciplinary clinic layouts utilized in centers worldwide; and 2) characterize an institutional experience with the management of these conditions, focusing on the patient demographics, clinical presentation, complications, and therapeutic strategies seen in a patient population. METHODS A systematic review of studies involving multidisciplinary clinics and their reported structure was performed according to PRISMA guidelines using the PubMed database. Then a retrospective chart review of patients enrolled in the Oklahoma Children’s Hospital Neurocutaneous Syndromes Clinic was conducted. RESULTS A search of the PubMed database yielded 251 unique results. Of these, 15 papers were included in the analysis, which identified 16 clinics that treated more than 2000 patients worldwide. The majority of these clinics treated patients with neurofibromatosis (13/16). The remaining clinics treated patients with von Hippel–Lindau syndrome (n = 1), tuberous sclerosis complex (n = 1), and multiple neurocutaneous syndromes (n = 1). The most commonly represented subspecialties in these clinics were genetics (15/16) and neurology (13/16). Five clinics (31%) solely saw pediatric patients, 10 clinics saw a combination of children and adults, and the final clinic had separate pediatric and adult clinics. The retrospective chart review of the Neurocutaneous Syndromes Clinic demonstrated that 164 patients were enrolled and seen in the clinic from April 2013 to December 2021. Diagnoses were made based on clinical findings or results of genetic testing; 115 (70%) had neurofibromatosis type 1, 9 (5.5%) had neurofibromatosis type 2, 35 (21%) had tuberous sclerosis complex, 2 (1%) had von Hippel–Lindau syndrome, 2 (1%) had Gorlin syndrome, and the remaining patient (0.6%) had Aarskog-Scott syndrome. Patient demographics, clinical presentation, complications, and therapeutic strategies are also discussed. CONCLUSIONS To the best of the authors’ knowledge, this is the first detailed description of a comprehensive pediatric neurocutaneous clinic in the US that serves patients with multiple syndromes. There is currently heterogeneity between described multidisciplinary clinic structures and practices. More detailed accounts of clinic compositions and practices along with patient data and outcomes are needed in order to establish the most comprehensive and efficient multidisciplinary approach for neurocutaneous syndromes.

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Role, function and challenges of multidisciplinary centres for rare diseases exemplified for neurofibromatosis type 1 syndrome

Cited by 10 publications

References 21 publications

Surgical Management of Sporadic Peripheral Nerve Schwannomas in Adults: Indications and Outcome in a Single Center Cohort

Surgical Management of Sporadic Peripheral Nerve Schwannomas in Adults: Indications and Outcome in a Single Center Cohort

A new era for optic pathway glioma: A developmental brain tumor with life-long health consequences

Multidisciplinary neurocutaneous syndrome clinics: a systematic review and institutional experience

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