Pain correlates with germline mutation in schwannomatosis Article Swipe
Justin T. Jordan
,
Miriam J. Smith
,
James A. Walker
,
Serkan Erdin
,
Michael E. Talkowski
,
Vanessa L. Merker
,
Vijaya Ramesh
,
Wenli Cai
,
Gordon J. Harris
,
Miriam A. Bredella
,
Marlon Seijo
,
Alessandra Suuberg
,
James F. Gusella
,
Scott R. Plotkin
·
YOU?
·
· 2018
· Open Access
·
· DOI: https://doi.org/10.1097/md.0000000000009717
YOU?
·
· 2018
· Open Access
·
· DOI: https://doi.org/10.1097/md.0000000000009717
Schwannomatosis has been linked to germline mutations in the SMARCB1 and LZTR1 genes, and is frequently associated with pain.In a cohort study, we assessed the mutation status of 37 patients with clinically diagnosed schwannomatosis and compared to clinical data, whole body MRI (WBMRI), visual analog pain scale, and Short Form 36 (SF-36) bodily pain subscale.We identified a germline mutation in LZTR1 in 5 patients (13.5%) and SMARCB1 in 15 patients (40.5%), but found no germline mutation in 17 patients (45.9%). Peripheral schwannomas were detected in 3 LZTR1-mutant (60%) and 10 SMARCB1-mutant subjects (66.7%). Among those with peripheral tumors, the median tumor number was 4 in the LZTR1 group (median total body tumor volume 30 cc) and 10 in the SMARCB1 group (median volume 85cc), (P=.2915 for tumor number and P = .2289 for volume). mutation was associated with an increased prevalence of spinal schwannomas (100% vs 41%, P = .0197). The median pain score was 3.9/10 in the LZTR1 group and 0.5/10 in the SMARCB1 group (P = .0414), and SF-36 pain-associated quality of life was significantly worse in the LZTR1 group (P = .0106). Pain scores correlated with total body tumor volume (rho = 0.32471, P = .0499), but not with number of tumors (rho = 0.23065, P = .1696).We found no significant difference in quantitative tumor burden between mutational groups, but spinal schwannomas were more common in LZTR1-mutant patients. Pain was significantly higher in LZTR1-mutant than in SMARCB1-mutant patients, though spinal tumor location did not significantly correlate with pain. This suggests a possible genetic association with schwannomatosis-associated pain.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1097/md.0000000000009717
- OA Status
- gold
- Cited By
- 34
- References
- 22
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2790621562
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W2790621562Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1097/md.0000000000009717Digital Object Identifier
- Title
-
Pain correlates with germline mutation in schwannomatosisWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2018Year of publication
- Publication date
-
2018-01-31Full publication date if available
- Authors
-
Justin T. Jordan, Miriam J. Smith, James A. Walker, Serkan Erdin, Michael E. Talkowski, Vanessa L. Merker, Vijaya Ramesh, Wenli Cai, Gordon J. Harris, Miriam A. Bredella, Marlon Seijo, Alessandra Suuberg, James F. Gusella, Scott R. PlotkinList of authors in order
- Landing page
-
https://doi.org/10.1097/md.0000000000009717Publisher landing page
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
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-
https://doi.org/10.1097/md.0000000000009717Direct OA link when available
- Concepts
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Medicine, SMARCB1, Germline mutation, Germline, Oncology, Internal medicine, Mutation, Genetics, Biology, Gene, Chromatin, Chromatin remodeling, DNATop concepts (fields/topics) attached by OpenAlex
- Cited by
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34Total citation count in OpenAlex
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2025: 5, 2024: 7, 2023: 2, 2022: 6, 2021: 8Per-year citation counts (last 5 years)
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22Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.significantly | 176, 233, 247 |
| abstract_inverted_index.SMARCB1-mutant | 90, 239 |
| abstract_inverted_index.Schwannomatosis | 0 |
| abstract_inverted_index.pain-associated | 171 |
| abstract_inverted_index.schwannomatosis | 33 |
| abstract_inverted_index.schwannomatosis-associated | 258 |
| cited_by_percentile_year.max | 99 |
| cited_by_percentile_year.min | 94 |
| corresponding_author_ids | https://openalex.org/A5059222419 |
| countries_distinct_count | 1 |
| institutions_distinct_count | 14 |
| corresponding_institution_ids | https://openalex.org/I4210087915, https://openalex.org/I4210102457 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/3 |
| sustainable_development_goals[0].score | 0.41999998688697815 |
| sustainable_development_goals[0].display_name | Good health and well-being |
| citation_normalized_percentile.value | 0.87402781 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | True |