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Observation reveals a novel TANC1::HTRA1 fusion in schwannoma, highlighting implications for molecular diagnosis.
A range of genomic drivers have been identified in schwannomas, including a number of translocations, most commonly SH3PXD2A::HTRA1 . To date, despite the analysis of large numbers of cases, no examples of variant HTRA1 partners have been described. We describe a schwannoma arising in the periportal region in which a novel TANC1::HTRA1 fusion was identified. The identification of this variant expands the range of fusion drivers in schwannoma and offers insight into the pathogenic mechanism of HTRA1 fusions and their utility in molecular diagnosis.
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Watkins et al. (2025) studied this question.
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