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直肠混合性神经内分泌-非神经内分泌肿瘤:一例报告

Mixed Neuroendocrine-Non-Neuroendocrine Neoplasms of the Rectum: A Case Report.

作者信息

Verdasca Filipa Ribeiro, Ferreira Rita, Montenegro Alexandra, Mendes José Leão, Furtado Ivánia, Escaleira Rui, Fernandes Válter, Seladas Marta, Cristovão Miguel, da Luz Ricardo, Guerreiro Inês

机构信息

Oncology Department, Unidade Local de Saúde São José, Lisboa, Portugal.

Pathology Department, Unidade Local de Saúde São José, Lisboa, Portugal.

出版信息

Case Rep Oncol. 2024 May 17;17(1):587-595. doi: 10.1159/000538384. eCollection 2024 Jan-Dec.

Abstract

INTRODUCTION

Mixed neuroendocrine-non-neuroendocrine neoplasms (MiNEN) represent roughly 1-2% of all colorectal malignancies. Given the rareness and heterogeneity of these mixed tumors, recognition and accurate diagnosis remain a challenge. In the absence of established guidelines, they are treated according to the standard of care for pure neuroendocrine carcinomas or adenocarcinomas from similar sites of origin.

CASE PRESENTATION

We herein report a case of a rectal MiNEN in a 55-year-old male. He underwent colonoscopy for rectal bleeding and mucus emission, which revealed a vegetating lesion located approximately 8 cm from the anal verge, corresponding to a moderately differentiated low-grade adenocarcinoma of the rectum. Computed tomography scan and magnetic resonance imaging uncovered the presence of lung, lymph node, and subcutaneous implant metastases. The biopsy of the cutaneous implant showed neuroendocrine carcinoma Ki-67 90%. The patient underwent systemic chemotherapy.

CONCLUSION

High-grade MiNEN tumors are the most commonly encountered in clinical practice and have an aggressive biological behavior. Little is known about the genetic drivers of this neoplasm and its pathogenesis remains controversial. Clinical and pathological awareness of this rare entity is a key step to design future targeted therapies and improve treatment options. The aim of this case report is to further our understanding regarding the clinical presentation, radiological features, pathology, management, and prognosis of MiNEN.

摘要

引言

混合性神经内分泌-非神经内分泌肿瘤(MiNEN)约占所有结直肠恶性肿瘤的1%-2%。鉴于这些混合性肿瘤的罕见性和异质性,识别和准确诊断仍然是一项挑战。在缺乏既定指南的情况下,它们按照来自相似起源部位的纯神经内分泌癌或腺癌的治疗标准进行治疗。

病例报告

我们在此报告一例55岁男性直肠MiNEN病例。他因直肠出血和黏液排出接受结肠镜检查,结果显示距肛门边缘约8厘米处有一个赘生性病变,对应于直肠中分化低级别腺癌。计算机断层扫描和磁共振成像发现存在肺、淋巴结和皮下种植转移。皮肤种植体活检显示神经内分泌癌,Ki-67为90%。该患者接受了全身化疗。

结论

高级别MiNEN肿瘤是临床实践中最常见的,具有侵袭性生物学行为。关于这种肿瘤的基因驱动因素知之甚少,其发病机制仍存在争议。对这种罕见实体的临床和病理认识是设计未来靶向治疗和改善治疗选择的关键一步。本病例报告的目的是进一步加深我们对MiNEN的临床表现、放射学特征、病理学、管理和预后的理解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6c9b/11249797/b90beec27f13/cro-2024-0017-0001-538384_F01.jpg

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