Abstract | PURPOSE OF REVIEW: RECENT FINDINGS: 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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Authors | Martin Planet, Michel Kalamarides, Matthieu Peyre |
Journal | Current opinion in oncology
(Curr Opin Oncol)
Vol. 35
Issue 6
Pg. 550-557
(11 01 2023)
ISSN: 1531-703X [Electronic] United States |
PMID | 37820090
(Publication Type: Review, Journal Article)
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Copyright | Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved. |
Topics |
- Humans
- Neurilemmoma
(diagnosis, genetics, therapy)
- Neurofibromatoses
(diagnosis, genetics, therapy)
- Skin Neoplasms
(diagnosis, genetics, therapy)
- Neurofibromatosis 2
(diagnosis, genetics, therapy)
- Pain
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