Anaplastic Thyroid Carcinoma With Kinase Gene Fusions: Report of 3 Cases With Corresponding Cytologic, Histologic, and Molecular Findings.
Nicholas Jin Hong Tan, Peter M Sadow, Dora Dias-Santagata et al.
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Case in brief
Three cases of anaplastic thyroid carcinoma (ATC) with kinase gene fusions were analyzed, revealing typical cytologic features such as marked nuclear atypia and sarcomatoid morphology. Despite the absence of distinguishing histologic features, negative immunohistochemistry for BRAF V600E and RAS Q61R suggested the need for early molecular testing. The cases showed modest success with fusion-targeted therapy, highlighting the potential for improved treatment strategies.
Diagnostic / clinical pearl
Negative immunohistochemistry for BRAF V600E and RAS Q61R in ATC may indicate the need for early molecular testing to identify kinase fusions.
Why it matters
This case underscores the importance of rapid genetic analysis in guiding treatment decisions for aggressive malignancies like anaplastic thyroid carcinoma.