Pathology Unit, Azienda Sanitaria Toscana Nord Ovest, Via Cocchi 1, 56121, Pisa, Italy.
Surgery Unit, Ospedale Unico Versilia, Azienda Sanitaria Toscana Nord Ovest, 56121, Pisa, Italy.
Virchows Arch. 2024 Jan;484(1):141-146. doi: 10.1007/s00428-023-03532-7. Epub 2023 Mar 29.
Mixed neuroendocrine-non-neuroendocrine carcinomas of the cervix are rare and generally aggressive diseases. They often present at an advanced stage with hematogenous or lymphatic metastases. The prognosis is poor, mostly influenced by the neuroendocrine component. Unfortunately, the rarity of the disease caused a lack of information about its pathogenesis and molecular landscape. The latest guidelines recommend a multimodal approach that usually includes radical surgery, platinum/etoposide-based chemotherapy, or chemoradiation. Here, we are presenting a case of metastatic mixed adenocarcinoma-large cell neuroendocrine carcinoma of the cervix in a 49-year-old female patient. The molecular characterization of the lesion highlighted the ubiquitous presence of human papillomavirus-18 DNA both in the adenocarcinomatous and the neuroendocrine components, suggesting a role for the virus in the pathogenesis. Moreover, a different set of mutations was detected in the two parts, thus ruling out a possible clonal evolution of the neuroendocrine component from the adenocarcinoma one. More studies are needed to clarify the molecular landscape of these rare lesions and identify putative targets for therapy.
宫颈混合性神经内分泌-非神经内分泌癌非常罕见，通常具有侵袭性。它们常以晚期出现，伴有血行或淋巴转移。预后较差，主要受神经内分泌成分影响。不幸的是，由于疾病罕见，导致其发病机制和分子特征的信息不足。最新的指南建议采用多模式方法，通常包括根治性手术、以铂类/依托泊苷为基础的化疗或放化疗。在此，我们报告一例 49 岁女性宫颈转移性混合性腺癌-大细胞神经内分泌癌病例。病变的分子特征突出显示人乳头瘤病毒 18 型 DNA 在腺癌和神经内分泌成分中普遍存在，提示病毒在发病机制中的作用。此外，在两个部分中检测到了不同的突变集，从而排除了神经内分泌成分可能从腺癌中克隆进化的可能性。需要进一步研究以阐明这些罕见病变的分子特征，并确定潜在的治疗靶点。
