Objective: To describe the gene alteration status in high-grade neuroendocrine cervical carcinoma (NECC) specimens and to explore the potential association of unique gene alterations with survival.

Methods: Results from tumor-based molecular testing on specimens from women with high-grade NECC in the Neuroendocrine Cervical Tumor Registry were reviewed and analyzed. Tumor specimens could be from primary or metastatic sites and obtained at initial diagnosis, during treatment, or at recurrence.

Results: Molecular testing results were available for 109 women with high-grade NECC. The genes most frequently mutated were (mutated in 18.5% of patients), (17.4%), and (14.5%). Other targetable alterations identified were alterations in (7.3%), (7.3%), and (7.3%). Women with tumors having an alteration (6.4%) had a median overall survival (OS) of 13 months, compared to 26 months for women with tumors that did not have an alteration (p=0.003). None of the other genes evaluated were shown to be associated with OS.

Conclusion: Although no individual alteration was found in a majority of tumor specimens from patients with high-grade NECC, a large proportion of women with this disease will have at least one targetable alteration. Treatments based on these gene alterations may offer additional targeted therapies for women with recurrent disease, who currently have very limited therapeutic options. Patients with tumors that harbor alterations have decreased OS.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10323301PMC
http://dx.doi.org/10.3802/jgo.2023.34.e50DOI Listing

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