Recurrent mutations within the amino-terminal region of β-catenin are probable key molecular driver events in sinonasal hemangiopericytoma
Sinonasal hemangiopericytoma (SN-HPC) is an uncommon, site-specific, low-grade mesenchymal neoplasm of probable perivascular myoid cell origin. In contrast to solitary fibrous tumors of soft tissue and sinonasal tract origin, SN-HPCs were recently shown to lack recurrent NAB2-STAT6 fusion variants....
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| Hauptverfasser: | , , , , , , , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
2015
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| In: |
The American journal of pathology
Year: 2014, Jahrgang: 185, Heft: 2, Pages: 563-571 |
| ISSN: | 1525-2191 |
| DOI: | 10.1016/j.ajpath.2014.10.019 |
| Online-Zugang: | Verlag, kostenfrei, Volltext: http://dx.doi.org/10.1016/j.ajpath.2014.10.019 Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.ajpath.2014.10.019 Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S0002944014006130 
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| Verfasserangaben: | Florian Haller, Matthias Bieg, Evgeny A. Moskalev, Sarah Barthelmeß, Helene Geddert, Carsten Boltze, Nicolle Diessl, Karin Braumandl, Benedikt Brors, Heinrich Iro, Arndt Hartmann, Stefan Wiemann, and Abbas Agaimy |
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| 245 | 1 | 0 | |a Recurrent mutations within the amino-terminal region of β-catenin are probable key molecular driver events in sinonasal hemangiopericytoma |c Florian Haller, Matthias Bieg, Evgeny A. Moskalev, Sarah Barthelmeß, Helene Geddert, Carsten Boltze, Nicolle Diessl, Karin Braumandl, Benedikt Brors, Heinrich Iro, Arndt Hartmann, Stefan Wiemann, and Abbas Agaimy |
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| 520 | |a Sinonasal hemangiopericytoma (SN-HPC) is an uncommon, site-specific, low-grade mesenchymal neoplasm of probable perivascular myoid cell origin. In contrast to solitary fibrous tumors of soft tissue and sinonasal tract origin, SN-HPCs were recently shown to lack recurrent NAB2-STAT6 fusion variants. Other molecular alterations known to occur in some of soft tissue perivascular myoid cell neoplasms were also absent in SN-HPC; thus, the molecular pathogenesis of SN-HPCs remained unknown. Guided by whole-genome sequencing combined with RNA sequencing of an index case, we analyzed a total of six SN-HPCs for mutations within the amino-terminal region of the gene CTNNB1 (cadherin-associated protein), β 1, 88 kDa, encoding β-catenin. All six cases showed missense mutations, with amino acid substitutions clustering at positions 33 to 45, corresponding to the recognition site of the β-catenin destruction complex. Similar CTNNB1 mutations have been described in a variety of epithelial and mesenchymal neoplasms. These mutations prevent β-catenin phosphorylation and proteasomal degradation but promote its nuclear accumulation and subsequent increased transcription of Wingless-related integration site target genes. Consistent with these molecular findings, β-catenin IHC showed consistent diffuse and strong nuclear staining of the tumor cells in all six SN-HPCs. Our results highlight, for the first time, CTNNB1 mutations as the likely initiating molecular events driving SN-HPC tumorigenesis, which places SN-HPC among the growing family of β-catenin-driven mesenchymal neoplasms. | ||
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