Neuro endocrinology letters · 2023
Small-cell neuroendocrine carcinoma of the cervix associated with adenocarcinoma in situ: A case report with analysis of molecular abnormalities.
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Madžarac Vedran, Culej Diana, Mužinić Darija, Zovko Gojko, Fenzl Vanja, Duić Željko
Аннотация
OBJECTIVE: We report a case of small-cell neuroendocrine carcinoma (SNEC) of uterine cervix associated with adenocarcinoma in situ (AIS), and we discuss prognosis, treatment benefit and goals of care.
CASE REPORT: A 36-year-old pluriparous woman presented with vaginal bleeding. Bimanual pelvic examination revealed a exophytic mass arising from the posterior lip of the cervix. A transvaginal ultrasound revealed endometrium thickness of 7mm and exophytic 39x19mm mass arising from the posterior lip of the cervix. Histopathological analysis of the tumorous lesion revealed a small-cell neuroendocrine carcinoma admixed with adenocarcinoma in situ. Differential immunohistochemistry of the small-cell neuroendocrine carcinoma component was CKAE1/AE3, CD 56, TTF -1 positive with diffuse expression of chromogranin and synaptophysin. HPV type 18 has been detected through PCR sequencing analysis. The next generation sequencing based on a 324-gene panel showed that tumor was microsatellite stable (MSS) with low mutational burden (TMB). Only missense mutations of FGF10, HSD3B1, NBN, PBRM1, RICTOR, SDHA were detected. Radical surgery was performed and the patient received adjuvant chemotherapy consisting of cisplatin/etoposide for six cycles. During 12 months of follow up the patient is free of disease.
CONCLUSION: Neuroendocrine tumour of uterine cervix is an extremely rare and aggressive cancer. Because of its low incidence there is still no standardized treatment approach based on controlled trials. Radical surgery and adjuvant or neoadjuvant chemotherapy is the mainstay of treatment.
CASE REPORT: A 36-year-old pluriparous woman presented with vaginal bleeding. Bimanual pelvic examination revealed a exophytic mass arising from the posterior lip of the cervix. A transvaginal ultrasound revealed endometrium thickness of 7mm and exophytic 39x19mm mass arising from the posterior lip of the cervix. Histopathological analysis of the tumorous lesion revealed a small-cell neuroendocrine carcinoma admixed with adenocarcinoma in situ. Differential immunohistochemistry of the small-cell neuroendocrine carcinoma component was CKAE1/AE3, CD 56, TTF -1 positive with diffuse expression of chromogranin and synaptophysin. HPV type 18 has been detected through PCR sequencing analysis. The next generation sequencing based on a 324-gene panel showed that tumor was microsatellite stable (MSS) with low mutational burden (TMB). Only missense mutations of FGF10, HSD3B1, NBN, PBRM1, RICTOR, SDHA were detected. Radical surgery was performed and the patient received adjuvant chemotherapy consisting of cisplatin/etoposide for six cycles. During 12 months of follow up the patient is free of disease.
CONCLUSION: Neuroendocrine tumour of uterine cervix is an extremely rare and aggressive cancer. Because of its low incidence there is still no standardized treatment approach based on controlled trials. Radical surgery and adjuvant or neoadjuvant chemotherapy is the mainstay of treatment.