ArticleHuman genetics2026
High frequency of mosaic NF2-related schwannomatosis diagnosed after somatic analysis of multi-nodular schwannomas in schwannomatosis patients.
Article in Human genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Following the recent introduction of molecular diagnosis criteria for schwannomatosis, we decided to study the results of somatic molecular testing in patients with a tumor burden suggestive of non-NF2-related Schwannomatosis, with a particular focus on patients harboring multi-nodular schwannomas. We selected 22 patients harboring multiple peripheral nerve schwannomas, with or without associated lumbar schwannomas after a brain and spine MRI workup ruling out cranial nerve schwannomas, meningiomas and ependymomas. For each patient, at least 2 separate anatomically distinct tumor nodules were available for analysis. We distinguished mono-nodular from multi-nodular tumors and performed targeted sequencing of the NF2, SMARCB1 and LZTR1 genes for all tumors and germline DNA when available. We analyzed 69 tumor nodules in 22 patients, 19 of whom had a non-familial disease. Most patients (54%) had a diffuse schwannomatosis. Following germline and somatic genetic analysis, 11 patients were diagnosed with LZTR1-related schwannomatosis (50%), 3 patients with possible LZTR1- or SMARCB1-related Schwannomatosis (14%), 7 patients with mosaic NF2-related Schwannomatosis (32%), and 1 patient with 22q-related schwannomatosis (4%). Patients with multi-nodular schwannomas (n = 9), all with a non-familial disease, harbored a mosaic NF2-related Schwannomatosis in a majority of cases (5/9; 55%; p = 0.02), while patients with mononodular schwannomas harbored more frequently a LZTR1-related Schwannomatosis (9/13; 69%; p = 0.03). This study illustrates the underestimated high frequency of mosaic NF2-related schwannomatosis in patients harboring multi-nodular peripheral nerve schwannomas. As multi-nodular schwannomas are associated with higher surgical morbidity, the pivotal role of the NF2 gene in their tumorigenesis opens perspectives for Schwannomatosis research.
Indexed as
Identifiers
41824074What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.