NTRK -rearranged Spindle Cell Neoplasm of the Uterus: An Emerging Entity.
Haley Corbin, Shikha Malhotra, Kanika Goel et al.
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Case in brief
The report describes an NTRK-rearranged spindle cell neoplasm arising in the uterine corpus. Molecular testing identified an NTRK1::TIMP3 fusion. Immunohistochemistry showed diffuse positivity for desmin and progesterone receptor, with negative staining for CD34 and S100. This profile differs from the typical pattern described for these neoplasms, which is CD34- and S100-positive and desmin- and hormone-receptor-negative. The abstract does not provide further clinical presentation, treatment, or outcome details.
What made this case unusual
The uterine corpus location, previously unreported NTRK1::TIMP3 fusion partner, and immunophenotype—diffuse desmin and progesterone receptor positivity with CD34 and S100 negativity—are atypical for this entity.
Diagnostic / clinical pearl
An atypical immunohistochemical profile does not exclude an NTRK-rearranged spindle cell neoplasm; molecular identification of the fusion can clarify the diagnosis.