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一例区分胃食管交界部肝样腺癌与睾丸生殖细胞肿瘤挑战的病例报告:基因表达谱分析助力改善诊断的见解

A case report of challenges in distinguishing gastroesophageal junction hepatoid adenocarcinoma from testicular germ cell tumor: Insights for improved diagnosis with gene expression profiling.

作者信息

Yazdanpanah Omid, Lee Fa-Chyi, Houshyar Roozbeh, Nourbakhsh Mahra, Mar Nataliya

机构信息

Division of Hematology and Oncology, UC Irvine Medical Center, Orange, CA, USA.

Department of Radiology, UC Irvine Medical Center, Orange, CA, USA.

出版信息

SAGE Open Med Case Rep. 2024 Jan 3;12:2050313X231223469. doi: 10.1177/2050313X231223469. eCollection 2024.

Abstract

Gastroesophageal junction hepatoid adenocarcinoma is a rare form of gastroesophageal cancer. We present a case of a 38-year-old man with no significant medical history who was diagnosed with gastroesophageal junction hepatoid adenocarcinoma but initially misdiagnosed with a testicular germ cell tumor, given the elevated alpha-feto protein and poorly differentiated pathology. We will elaborate on the importance of gene expression profiling in modern oncology to better define the tumor of origin in patients with cancer of unknown primary origin, how it helped us to diagnose gastroesophageal junction hepatoid adenocarcinoma and how it can help identify potential additional therapeutic targets in some cases. Due to the rarity of this subtype of gastroesophageal junction cancer there is a lack of standard therapeutic options, and we will discuss the most commonly used treatment regimens. The patient underwent three lines of antineoplastic therapy and unfortunately passed after 51 weeks of follow-up.

摘要

胃食管交界部肝样腺癌是一种罕见的胃食管癌。我们报告一例38岁男性病例,该患者无重大病史,被诊断为胃食管交界部肝样腺癌,但最初因甲胎蛋白升高和病理分化差而被误诊为睾丸生殖细胞肿瘤。我们将阐述基因表达谱在现代肿瘤学中的重要性,以更好地确定原发性不明癌症患者的肿瘤起源,它如何帮助我们诊断胃食管交界部肝样腺癌,以及在某些情况下它如何有助于识别潜在的其他治疗靶点。由于这种胃食管交界部癌症亚型罕见,缺乏标准的治疗方案,我们将讨论最常用的治疗方案。该患者接受了三线抗肿瘤治疗,不幸的是在随访51周后去世。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2159/10768574/b3f236cdd0d4/10.1177_2050313X231223469-fig1.jpg

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