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image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Genes Chromosomes an...arrow_drop_down
image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
Genes Chromosomes and Cancer
Article . 2023 . Peer-reviewed
License: Wiley Online Library User Agreement
Data sources: Crossref
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Novel ATG7::RAF1 gene fusion in malignant glomus tumor

Authors: Saba Shafi; Dan Jones; O. Hans Iwenofu; Swati Satturwar;

Novel ATG7::RAF1 gene fusion in malignant glomus tumor

Abstract

AbstractGlomus tumors are classified as members of the perivascular myoid family of tumors. Nearly half of these show NOTCH‐gene fusions and a smaller subset has BRAF V600E mutations. Here, we report a novel ATG7::RAF1 fusion in malignant glomus tumor occurring in a 40‐year‐old female which has not been reported in the malignant glomus tumor before. A 40‐year‐old female presented with a persistent lateral heel pain and an increase in the size of a mass along the lateral ankle for nearly 10 years. Resected specimen showed a well circumscribed lesion composed of spindled and epithelioid cells with moderate nuclear atypia and mitotic figures (7/10 high‐power fields) including atypical forms without any necrosis, lymphovascular, or perineural invasion. The tumor was positive for smooth muscle actin, smooth muscle myosin heavy chain, H‐caldesmon, collagen type IV, and discovered on gastronintestinal stromal tumors‐1 but negative for AE1/3, desmin, S‐100, CD34, and CD117. RNA sequencing showed presence of ATG7‐RAF1 fusion. This fusion has not been reported in the malignant glomus tumor before. Future studies on larger cohorts are needed to ascertain the biological significance of these tumors with novel gene fusions.

Related Organizations
Keywords

Adult, S100 Proteins, Biomarkers, Tumor, Humans, Female, Sarcoma, Soft Tissue Neoplasms, Gene Fusion, Glomus Tumor

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Powered by OpenAIRE graph
Found an issue? Give us feedback
selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
6
Top 10%
Average
Top 10%
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