Histology-specific FGFR2 alterations and FGFR2-TACC2 fusion in mixed adenoid cystic and neuroendocrine small cell carcinoma of the uterine cervix

• Published in: Gynecologic oncology reports 2020-11, Vol.34, p.100668-100668, Article 100668
• Main Authors: Gill, Corey M., Orfanelli, Theofano, Yoxtheimer, Lorene, Roy-McMahon, Christine, Suhner, Jessa, Tomita, Shannon, Kalir, Tamara, Liu, Yuxin, Houldsworth, Jane, Kolev, Valentin
• Format: Article
• Language: English
• Subjects: Adenoid cystic carcinoma; Cervical neoplasm; Cervix; Precision medicine; Procidentia; Review; Small cell carcinoma
• ISSN: 2352-5789; 2352-5789
• DOI: 10.1016/j.gore.2020.100668

•Cervical cancer may present with underlying mixed histopathology.•Sequencing revealed a FGFR2-TACC2 fusion in neuroendocrine small cell carcinoma of the cervix.•The understanding genomic heterogeneity of cervical cancer continues to evolve with expansion of clinical trial options. Neuroendocrine small cell carcinoma of the uterine cervix portends a dismal prognosis with limited treatment options. Rarely, tumors of mixed-lineage appear in gynecologic malignancies. Here, we report a 77-year-old woman who presented with complete uterine prolapse and 4-month history of vaginal bleeding. Histopathologic evaluation revealed a mixed adenoid cystic carcinoma and neuroendocrine small cell carcinoma of the uterine cervix. The tumor was PD-L1 and HPV 35 positive. The patient was treated with up-front surgery and adjuvant radiation. Independent, histology-specific alterations in FGFR2 and a FGFR2-TACC2 fusion were identified. Progression of disease occurred within 6 months for which she received chemotherapy and immunotherapy. However, the patient expired within a year. We comprehensively review how screening for and targeting of FGFR alterations in recurrent and metastatic cervical cancer might serve as a touchstone for future treatment regimens.