Genomic analysis reveals frequent <i>TRAF7</i> mutations in intraneural perineuriomas

Klein, Christopher J.; Wu, Yanhong; Jentoft, Mark E.; Mer, Georges; Spinner, Robert J.; Dyck, Peter J.; Mauermann, Michelle L.

doi:10.1002/ana.24854

Cited by 59 publications

(40 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The eight human cancers with relatively higher genetic alterations of TRAF7 are breast cancer (6%) ( 189 ), prostate cancer (5.1%) ( 280 ), stomach cancer (4.8%) (8), sarcoma (3.8%) (TCGA, Provisional), esophageal cancer (3.3%) (TCGA, PanCancer Atlas), uterine cancer (3.2%) (TCGA, PanCancer Atlas), melanoma (3.1%) (TCGA, PanCancer Atlas), and liver cancer (2.4%) (TCGA, PanCancer Atlas). However, it should be noted that although not yet cataloged in TCGA, the rate of TRAF7 mutation is overwhelmingly high in patients with adenomatoid tumors of the male and female genital tracts (100%, 31/31) ( 281 ), secretory meningiomas (97%, 29/30) ( 282 ), intraneural perineuriomas (62.5%, 10/16) ( 283 ), and meningiomas 23% (182/775) ( 284 ) (Figure 1B ). In particular, high frequencies (15–26%) of TRAF7 mutations has been reproducibly detected in multiple studies ( 284 – 288 ), and knowledge of TRAF7 mutations has contributed significantly to improving the diagnosis, classification, prognosis, and treatment of patients with meningiomas ( 282 , 286 , 289 – 291 ).…”

Section: Traf7mentioning

confidence: 99%

“…N520 mutations (N520S, H, Y, or T) are found in 31 patients with meningioma, mesothelioma, sarcoma and colon cancer ( 12 , 106 , 282 , 284 , 285 , 293 , 294 ). Mutations of the next amino acid H521 (H521R or N) are identified in 15 patients with adenomatoid tumor, perineurioma, and meningioma ( 281 , 283 , 284 ). G536 mutations (G536S or V) are detected in 16 patients with meningioma, pancreatic cancer, mesothelioma and stomach cancer ( 106 , 282 , 284 , 285 , 293 – 295 ).…”

Section: Traf7mentioning

confidence: 99%

“…G536 mutations (G536S or V) are detected in 16 patients with meningioma, pancreatic cancer, mesothelioma and stomach cancer ( 106 , 282 , 284 , 285 , 293 – 295 ). S561 mutations (S561R, N or T) are identified in 19 patients with adenomatoid tumor, perineurioma and meningioma ( 281 , 283 , 284 ). K615E mutations are detected in 15 patients with meningioma and OSCC ( 284 , 296 ).…”

Section: Traf7mentioning

confidence: 99%

See 2 more Smart Citations

Genetic Alterations of TRAF Proteins in Human Cancers

et al. 2018

View full text Add to dashboard Cite

The tumor necrosis factor receptor (TNF-R)-associated factor (TRAF) family of cytoplasmic adaptor proteins regulate the signal transduction pathways of a variety of receptors, including the TNF-R superfamily, Toll-like receptors (TLRs), NOD-like receptors (NLRs), RIG-I-like receptors (RLRs), and cytokine receptors. TRAF-dependent signaling pathways participate in a diverse array of important cellular processes, including the survival, proliferation, differentiation, and activation of different cell types. Many of these TRAF-dependent signaling pathways have been implicated in cancer pathogenesis. Here we analyze the current evidence of genetic alterations of TRAF molecules available from The Cancer Genome Atlas (TCGA) and the Catalog of Somatic Mutations in Cancer (COSMIC) as well as the published literature, including copy number variations and mutation landscape of TRAFs in various human cancers. Such analyses reveal that both gain- and loss-of-function genetic alterations of different TRAF proteins are commonly present in a number of human cancers. These include pancreatic cancer, meningioma, breast cancer, prostate cancer, lung cancer, liver cancer, head and neck cancer, stomach cancer, colon cancer, bladder cancer, uterine cancer, melanoma, sarcoma, and B cell malignancies, among others. Furthermore, we summarize the key in vivo and in vitro evidence that demonstrates the causal roles of genetic alterations of TRAF proteins in tumorigenesis within different cell types and organs. Taken together, the information presented in this review provides a rationale for the development of therapeutic strategies to manipulate TRAF proteins or TRAF-dependent signaling pathways in different human cancers by precision medicine.

show abstract

Section: Traf7mentioning

confidence: 99%

Section: Traf7mentioning

confidence: 99%

Section: Traf7mentioning

confidence: 99%

See 1 more Smart Citation

Genetic Alterations of TRAF Proteins in Human Cancers

et al. 2018

View full text Add to dashboard Cite

show abstract

“…Fluorescence in situ hybridization analysis of one intraosseous IP case found a deletion of the bcr locus (22q11) in 75 of 100 nuclei (Huguet et al, ) . However recent investigations revealed frequent TRAF7 mutations in IP and this is the same location for causal mutations of meningiomas (Klein et al, ) .…”

Section: Discussionmentioning

confidence: 74%

Intraneural perineuriomas: diagnostic value of magnetic resonance neurography

Cejas

Binaghi

Socolovsky

et al. 2017

J Peripheral Nervous Sys

View full text Add to dashboard Cite

Intraneural perineurioma (IP) is an under-recognized hypertrophic peripheral nerve tumor. It affects young patients involving frequently the sciatic nerve and its branches and presents with a progressive, painless and predominantly motor deficit. Magnetic resonance neurography (MRN) is a useful tool to localize the lesion, evaluate its extension, and discriminate between different etiologies. We reviewed the clinical records of 11 patients with pathologically confirm IP. Eight patients were males with mean age 19 years. Initial complains were unilateral steppage (seven patients), bilateral steppage (one patient), unilateral gastrocnemius wasting (one patient), unilateral thigh atrophy (one patient), and unilateral hand weakness (one patient). Nine patients had mild painless sensory loss. Examinations revealed involvement of sciatic nerve extending into the peroneal nerve (eight patients), posterior tibial nerve (one patient), radial nerve (one patient), and femoral nerve (one patient). MRN revealed enlargement of the affected nerve isointense on T1-weighted, hyperintense on T2 fat-saturated images, and with avid enhancement on post-contrast imaging. In all patients, a nerve biopsy confirmed the diagnosis. MRN allows early and non-invasive identification of this tumor and is a key tool providing localization and differential diagnosis in patients with slowly progressive focal neuropathies.

show abstract

“…However, recently performed genomic analysis indicates divergent pathogenetic mechanisms of intraneural PN and soft tissue PN. The intraneural PN frequently contains TRAF7 mutations [7], and rarely, chr22q12 deletions whereas the soft tissue PN showed no TRAF7 mutations. Alterations in NF1 or NF2 likely contribute to perineurioma pathogenesis, similar to other nerve sheath tumours [8].…”

Section: Introductionmentioning

confidence: 97%

Modern treatment of perineuriomas: a case-series and systematic review

et al. 2020

View full text Add to dashboard Cite

Background: Perineuriomas are rare benign peripheral nerve sheath tumours of perineurial cell origin and can be classified into intraneural and extraneural perineuriomas. They most commonly present a mononeuropathy of gradual onset and slow progression, resulting in progressive neurological deficits like hypoesthesia or motor weakness. Therapy is still variable. Aim of the study was to compare our surgical treatment and our follow-up regime including high-resolution nerve sonography with the current literature to evaluate best treatment of perineuriomas. Methods: Retrospective analysis of our dataset "peripheral nerve lesion" to identify patients suffering from perineuriomas between 01.01.2012 until 31.12.2018. Surgical treatment and the follow-up examination of three patients were described. Additionally, a systematic review including PubMed, the Cochrane Collaboration Library, Scopus and Google Scholar was performed for literature published between January 1, 1990 and October 31, 2019 independently by 2 authors. Results: In the first case, the left ulnar nerve was affected. In the second case, the left peroneal nerve and in the third case the right median nerve was affected. High-resolution nerve sonography was performed in each case. All patients underwent interfascicular neurolysis combined with a targeted fascicular biopsy under electrophysiological monitoring. Neurological deficits improved subsidized by rehabilitation. Surgical therapy and the neurological outcome were compared with literature. Systematic review revealed 22 articles, which met the inclusion criteria. Therefore, demographics, surgical treatment and neurological outcome of 77 patients were analysed. Conclusions: Perineuriomas are rare benign nerve sheath tumours with a slow progression, sometimes difficult to diagnose. Decompression and neurolysis may improve neurological deficits. High resolution nerve sonography might serve as a helpful additional diagnostic tool in this process.

show abstract

Genomic analysis reveals frequent TRAF7 mutations in intraneural perineuriomas

Cited by 59 publications

References 19 publications

Genetic Alterations of TRAF Proteins in Human Cancers

Genetic Alterations of TRAF Proteins in Human Cancers

Intraneural perineuriomas: diagnostic value of magnetic resonance neurography

Modern treatment of perineuriomas: a case-series and systematic review

Contact Info

Product

Resources

About