What is it about?
Recurrent gene fusions involving several kinases have been described in an emerging group of spindle cell tumors with ambiguous phenotype; however, ALK rearrangements have not been reported to date. Herein, we report a novel PPP1CB-ALK fusion in one such case.
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Why is it important?
In this report, we provide additional genetic insight into this new tumor type highlighting the importance of using multiple methodologies of molecular testing to improve diagnostic sensitivity.
Perspectives
There is growing evidence of morphologically different soft tissue neoplasms harboring kinase-related fusions while targeted therapies are progressively emerging as an alternative option. Are we moving towards a paradigm shift where all these entities will be lumped under the designation of "kinase-driven neoplasms"? Time will tell - sooner than later...
Oscar Lopez-Nunez
Cincinnati Children's Hospital Medical Center
Read the Original
This page is a summary of: Novel PPP1CB-ALK
fusion in spindle cell tumor defined by S100 and CD34 coexpression and distinctive stromal and perivascular hyalinization, Genes Chromosomes and Cancer, April 2020, Wiley,
DOI: 10.1002/gcc.22844.
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Resources
A novel group of spindle cell tumors defined by S100 and CD34 co-expression shows recurrent fusions involving RAF1, BRAF, and NTRK1/2 genes
Tumors characterized by co‐expression of S100 and CD34, in the absence of SOX10 together with the recurrent gene fusions in RAF1, BRAF, and NTRK1/2 kinases may suggest a distinct molecular tumor subtype.
S100 and CD34 positive spindle cell tumor with prominent perivascular hyalinization and a novel NCOA4-RET fusion
Report of a deep dermal forearm tumor harboring a novel NCOA4-RET gene fusion, adding it to the list of multiple kinase fusions originally reported in these tumors.
Novel TFG-RET fusion in a spindle cell tumour with S100 and CD34 coexpresssion
In this report, the authors describe a case occurring in a child in whom a novel gene fusion, TFG–RET, was identified. The morphologic diagnosis corresponds to a spindle cell tumor with S100 and CD34 coexpression—a novel, recently described entity.
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