Background The different types of schwannomatosis (SWN) are characterized by the occurrence of benign Schwann cell tumors (schwannomas). They can occur together with other intracranial or intraspinal tumors. SWN is generally diagnosed in adults. However, clinical manifestations of SWN can already present during childhood or adolescence even before the detection of tumors, thereby raising the suspicion of SWN. The different types of SWN are classified according to the predisposing gene into NF2‑, LZTR1- and SMARCB1-related SWN. The NF2-related SWN was formerly known as neurofibromatosis type 2 (NF2). Objective This review aims to raise awareness of the different types of SWN and the early symptoms. The detection of a predisposing pathogenic variant in one of the genes causing SWN enables an early and differential diagnosis of the disease. Material and methods This review is based on the published literature and our own long-term experience in the specialized clinical care and genetic diagnostics of patients with SWN. Results The genetic testing of children or adolescents ensures early differential diagnostics of the respective type of SWN, if clinical symptoms or the presence of one or more schwannomas or other tumors of the central nervous system raise the suspicion of SWN. This is important as the different types of SWN are associated with specific complications that should be considered during the clinical management of patients. An early clinical manifestation during childhood or adolescence of the most frequent type, the NF2-related SWN, is associated with an increased risk of a severe disease course with multiple intracranial and spinal tumors, early hearing loss and a reduced life expectancy. Patients with the rare LZTR1-related SWN often require specific pain management due to severe chronic neuropathic pain, which considerably reduces the quality of life. In cases of the very rare SMARCB1-related SWN, there is an increased malignancy risk, in particular for malignant peripheral nerve sheath tumors, so that a close clinical monitoring of patients is necessary. An increased malignancy risk has not been reported for the other SWN types. Conclusion An early differential diagnosis by means of clinical and genetic investigations according to the updated diagnostic criteria for all types of SWN is essential for an adequate long-term clinical surveillance and optimized treatment of patients.

Schwannomatose bei Kindern und Jugendlichen: hohe Relevanz frühzeitiger Diagnostik

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2025年11月5日

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Hildegard Kehrer-Sawatzki,
Lan Kluwe,
Said Farschtschi

摘要

Background

The different types of schwannomatosis (SWN) are characterized by the occurrence of benign Schwann cell tumors (schwannomas). They can occur together with other intracranial or intraspinal tumors. SWN is generally diagnosed in adults. However, clinical manifestations of SWN can already present during childhood or adolescence even before the detection of tumors, thereby raising the suspicion of SWN. The different types of SWN are classified according to the predisposing gene into NF2‑, LZTR1- and SMARCB1-related SWN. The NF2-related SWN was formerly known as neurofibromatosis type 2 (NF2).

Objective

This review aims to raise awareness of the different types of SWN and the early symptoms. The detection of a predisposing pathogenic variant in one of the genes causing SWN enables an early and differential diagnosis of the disease.

Material and methods

This review is based on the published literature and our own long-term experience in the specialized clinical care and genetic diagnostics of patients with SWN.

Results

The genetic testing of children or adolescents ensures early differential diagnostics of the respective type of SWN, if clinical symptoms or the presence of one or more schwannomas or other tumors of the central nervous system raise the suspicion of SWN. This is important as the different types of SWN are associated with specific complications that should be considered during the clinical management of patients. An early clinical manifestation during childhood or adolescence of the most frequent type, the NF2-related SWN, is associated with an increased risk of a severe disease course with multiple intracranial and spinal tumors, early hearing loss and a reduced life expectancy. Patients with the rare LZTR1-related SWN often require specific pain management due to severe chronic neuropathic pain, which considerably reduces the quality of life. In cases of the very rare SMARCB1-related SWN, there is an increased malignancy risk, in particular for malignant peripheral nerve sheath tumors, so that a close clinical monitoring of patients is necessary. An increased malignancy risk has not been reported for the other SWN types.

Conclusion

An early differential diagnosis by means of clinical and genetic investigations according to the updated diagnostic criteria for all types of SWN is essential for an adequate long-term clinical surveillance and optimized treatment of patients.