Madžarac Vedran, Culej Diana, Mužinić Darija, Zovko Gojko, Fenzl Vanja, Duić Željko
Department of Obstetrics and Gynecology, University Hospital Merkur, Ivana Zajca 19, 10000 Zagreb, Croatia.
Department of Pathology, University Hospital Merkur, Ivana Zajca 19, 10000 Zagreb, Croatia.
Neuro Endocrinol Lett. 2023 Jul 28;44(5):332-335.
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.
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.
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.
我们报告一例子宫颈小细胞神经内分泌癌（SNEC）合并原位腺癌（AIS）的病例，并讨论其预后、治疗益处及护理目标。
一名36岁经产妇出现阴道出血。双合诊盆腔检查发现宫颈后唇有一外生性肿物。经阴道超声显示子宫内膜厚度为7mm，宫颈后唇有一39×19mm的外生性肿物。肿瘤病变的组织病理学分析显示为小细胞神经内分泌癌合并原位腺癌。小细胞神经内分泌癌成分的鉴别免疫组化结果为细胞角蛋白AE1/AE3、CD56、甲状腺转录因子-1阳性，嗜铬粒蛋白和突触素弥漫性表达。通过PCR测序分析检测到18型人乳头瘤病毒（HPV）。基于324基因panel的二代测序显示肿瘤为微卫星稳定（MSS），突变负荷低（TMB）。仅检测到成纤维细胞生长因子10（FGF10）、3β-羟基类固醇脱氢酶1（HSD3B1）、Nibrin（NBN）、多溴联苯1（PBRM1）、rictor蛋白（RICTOR）、琥珀酸脱氢酶A（SDHA）的错义突变。患者接受了根治性手术，并接受了六个周期的顺铂/依托泊苷辅助化疗。在12个月的随访期间，患者无疾病复发。
子宫颈神经内分泌肿瘤是一种极其罕见且侵袭性强的癌症。由于其发病率低，目前仍没有基于对照试验的标准化治疗方法。根治性手术及辅助或新辅助化疗是主要治疗手段。
