SMARCA4-associated schwannomatosis

Chan-Pak-Choon, Fiona; Roca, Carla; Chong, Anne‐Sophie; Nogué, Clara; Dahlum, Sonja; Austin, Rachel; Fan, Helen Mar; Spaendonck‐Zwarts, Karin Y. van; Lambie, Neil; Robertson, Thomas; Siebert, Reiner; Rivera, Bárbara; Foulkes, William D.

doi:10.1007/s00401-023-02546-4

Cited by 4 publications

(1 citation statement)

References 15 publications

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“…2. Of note, SMARCA4- [6] and DGCR8- [7,8] schwannomatosis represent two recent forms of schwannomatosis, without any specific clinical features, and might constitute rare events [9].…”

Section: Key Pointsmentioning

confidence: 99%

Schwannomatosis: a Realm Reborn: year one

Planet,

Kalamarides,

Peyre

2023

Current Opinion in Oncology

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Purpose of review In 2022, an international consensus recommendation revised the nomenclature for neurofibromatosis type 2 (NF2) and Schwannomatosis (SWN), now grouped under the umbrella term Schwannomatosis, and defined new diagnostic criteria. Recent findings This review describes the molecular criteria for diagnosis of schwannomatosis and the subsequent diagnosis strategy, while setting out the most recent advances in our understanding of the natural history, pathology, molecular biology and treatment of schwannomatosis-associated tumors, including schwannomas, meningiomas and ependymomas. Summary Somatic mutation screening should become a new standard for the diagnosis of NF2-, LTZTR1-, SMARCB1- and 22q-schwannomatosis to discriminate those conditions. Constitutional events in NF2-Schwannomatosis have a major influence on disease severity and justifiably motivate ongoing efforts on gene replacement therapy research. On the other hand, underlying mechanisms of disease severity and associated pain remain largely unknown in non-NF2-SWN and independent of germline mutation. Research efforts therefore focus on pain relief in ongoing trials and the discovery of new molecular mechanisms underlying schwannoma tumorigenesis/pain/neuropathies.

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“…2. Of note, SMARCA4- [6] and DGCR8- [7,8] schwannomatosis represent two recent forms of schwannomatosis, without any specific clinical features, and might constitute rare events [9].…”

Section: Key Pointsmentioning

confidence: 99%

Schwannomatosis: a Realm Reborn: year one

Planet,

Kalamarides,

Peyre

2023

Current Opinion in Oncology

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Using cancer phenotype sex-specificity to enable unbiased penetrance estimation of SMARCA4 pathogenic variants for small cell carcinoma of the ovary, hypercalcemic type (SCCOHT)

Wade,

Witkowski,

Ahmed

et al. 2025

Genetics in Medicine

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Specifics of spinal neuropathology in the molecular age

Kresbach,

Hack,

Ricklefs

et al. 2024

Neuro-Oncology Advances

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Tumors located in the spinal cord and its coverings can be diagnostically challenging and require special consideration regarding treatment options. During the last decade, important advances regarding the molecular characterization of central and peripheral nervous system tumors were achieved, resulting in improved diagnostic precision, and understanding of the tumor spectrum of this compartment. In particular, array-based global DNA methylation profiling has emerged as a valuable tool to delineate biologically and clinically relevant tumor subgroups and has been incorporated in the current WHO classification for central nervous system tumors of 2021. In addition, several genetic drivers have been described, which may also help to define distinct tumor types and subtypes. Importantly, the current molecular understanding not only sharpens diagnostic precision but also provides the opportunity to investigate both targeted therapies as well as risk-adapted changes of treatment intensity. Here, we discuss the current knowledge and the clinical relevance of molecular neuropathology in spinal tumor entities.

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SMARCA4-associated schwannomatosis

Cited by 4 publications

References 15 publications

Schwannomatosis: a Realm Reborn: year one

Schwannomatosis: a Realm Reborn: year one

Using cancer phenotype sex-specificity to enable unbiased penetrance estimation of SMARCA4 pathogenic variants for small cell carcinoma of the ovary, hypercalcemic type (SCCOHT)

Specifics of spinal neuropathology in the molecular age

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