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具有三系分化的胃混合性神经内分泌-非神经内分泌肿瘤的多区域综合基因组分析

Multiregion Comprehensive Genomic Profiling of a Gastric Mixed Neuroendocrine-Nonneuroendocrine Neoplasm with Trilineage Differentiation.

作者信息

Farooq Faheem, Zarrabi Kevin, Sweeney Keith, Kim Joseph, Bandovic Jela, Patel Chiraag, Choi Minsig

机构信息

Department of Medicine, Stony Brook University Hospital, Stony Brook, NY, USA.

Department of Pathology, Stony Brook University Hospital, Stony Brook, NY, USA.

出版信息

J Gastric Cancer. 2018 Jun;18(2):200-207. doi: 10.5230/jgc.2018.18.e16. Epub 2018 Jun 11.

Abstract

Mixed neuroendocrine-nonneuroendocrine neoplasms (MiNENs) are a group of rare tumors previously known as mixed adenoneuroendocrine carcinomas (MANECs). The neuroendocrine component is high-grade and may consist of small-cell carcinoma or large-cell neuroendocrine carcinoma. The nonneuroendocrine component may consist of adenocarcinoma or squamous cell carcinoma. We report a unique case of a MiNEN with trilineage differentiation: large-cell neuroendocrine carcinoma, squamous cell carcinoma, and adenocarcinoma. The reported patient presented with symptoms of an upper gastrointestinal bleed and was ultimately diagnosed with a MiNEN with trilineage differentiation. This is the first report of this exceedingly rare tumor type to include next-generation sequencing of the 3 separate tumor entities. In addition, we review the current literature and discuss the role of next-generation sequencing in classifying and treating MiNEN tumors.

摘要

混合性神经内分泌-非神经内分泌肿瘤(MiNENs)是一组先前被称为混合性腺神经内分泌癌(MANECs)的罕见肿瘤。神经内分泌成分是高级别,可能由小细胞癌或大细胞神经内分泌癌组成。非神经内分泌成分可能由腺癌或鳞状细胞癌组成。我们报告了一例具有三系分化的MiNENs独特病例:大细胞神经内分泌癌、鳞状细胞癌和腺癌。报告的患者出现上消化道出血症状,最终被诊断为具有三系分化的MiNENs。这是这种极其罕见肿瘤类型的首例报告,其中包括对3个独立肿瘤实体进行的二代测序。此外,我们回顾了当前文献并讨论了二代测序在MiNEN肿瘤分类和治疗中的作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1221/6026709/ab689762754c/jgc-18-200-g001.jpg

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