PDF(Pubmed)
Abstract：
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.
摘要：
子宫颈混合性神经内分泌-非神经内分泌癌是罕见且通常具有侵袭性的疾病。它们通常在晚期出现血源性或淋巴转移。预后很差,主要受神经内分泌成分的影响。不幸的是,该疾病的罕见性导致缺乏有关其发病机理和分子景观的信息。最新指南推荐了一种多模式方法，通常包括根治性手术，铂/依托泊苷为基础的化疗，或化学放射。这里,我们介绍一例49岁女性患者的转移性混合腺癌-宫颈大细胞神经内分泌癌。病变的分子特征强调了人乳头瘤病毒18DNA在腺癌和神经内分泌成分中的普遍存在，提示病毒在发病机理中的作用。此外，在两个部分中检测到一组不同的突变，因此排除了腺癌神经内分泌成分可能的克隆进化。需要更多的研究来阐明这些罕见病变的分子景观，并确定治疗的推定靶标。
