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西妥昔单抗联合达拉非尼及曲美替尼治疗具有印戒细胞特征的BRAFV600E突变原发性肺腺癌未经治疗的结肠转移:一例有趣的罕见病例报告

Cetuximab and Dabrafenib Plus Trametinib for Untreated Colonic Metastasis of BRAFV600E Mutant Primary Lung Adenocarcinoma with Signet Ring Cell Features: An Interesting and Rare Case Report.

作者信息

Jiang Shujun, Wu Yanran, Wei Wenjie, Wang Zi, Wang Qi

机构信息

Department of Integrated Traditional Chinese and Western Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, People's Republic of China.

Department of Oncology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, People's Republic of China.

出版信息

Onco Targets Ther. 2022 Sep 26;15:1057-1062. doi: 10.2147/OTT.S375436. eCollection 2022.

DOI:10.2147/OTT.S375436
PMID:36186153
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9524378/
Abstract

Colonic metastases of lung adenocarcinoma are extremely rare. Signet ring cell adenocarcinoma (SRCA) has not been described in patients with gastrointestinal metastasis of lung adenocarcinoma. SRCA is a unique subtype of adenocarcinoma with strong invasion and a poor prognosis, and most SRCA found in the lung are due to gastrointestinal metastases. This report describes a rare case of colonic metastasis from primary lung SRCA. A 64-year-old female was admitted to Sun Yat-sen University Cancer Center for feeling of nausea and malaise. Following a positron emission tomography CT (PET-CT) scan, widespread metastases of tumor cells were found in the bilateral lung, liver, bone, and multiple lymph nodes, but there was no evidence of metastasis to the colon. Two months later, the patient received a liver biopsy at Tongji Hospital in Wuhan. Pathology revealed a poorly differentiated adenocarcinoma with SRCA conformation, but immunohistochemical staining did not identify the original source of tumor cells. Considering that SRCA mainly derives from the gastrointestinal tract and that serum gastrointestinal tumor markers were elevated, we performed gastrointestinal endoscopy on the patient. The results showed an isolated polyp in the colon, and the pathology results indicated a poorly differentiated adenocarcinoma that was considered to originate from the lung based on immunohistochemical staining. Meanwhile, genetic tests identified a BRAF V600E mutation. The final diagnosis was colonic metastasis of BRAFV 600E mutated lung SRCA. Considering the positive expression of EGFR in this case, cetuximab was innovatively added to the first-line treatment regime (dabrafenib and trametinib). To date, the patient has received thirty-two weeks of treatment. Interestingly, lung and liver tumors shrank and tumor markers in the blood normalized. Our findings offer valuable diagnostic and therapeutic information for colonic metastasis of BRAFV600E mutant primary lung adenocarcinoma with signet ring cell features.

摘要

肺腺癌的结肠转移极为罕见。肺腺癌发生胃肠道转移的患者中尚未见印戒细胞腺癌(SRCA)的报道。SRCA是腺癌的一种独特亚型,侵袭性强且预后差,在肺部发现的大多数SRCA是由胃肠道转移所致。本报告描述了一例原发性肺SRCA发生结肠转移的罕见病例。一名64岁女性因恶心和不适入住中山大学肿瘤防治中心。经正电子发射断层扫描CT(PET-CT)检查,发现双侧肺、肝、骨及多处淋巴结有广泛的肿瘤细胞转移,但无结肠转移证据。两个月后,患者在武汉同济医院接受了肝脏活检。病理显示为低分化腺癌,呈SRCA形态,但免疫组化染色未确定肿瘤细胞的原发来源。考虑到SRCA主要来源于胃肠道且血清胃肠道肿瘤标志物升高,我们对患者进行了胃肠内镜检查。结果显示结肠有一个孤立的息肉,病理结果为低分化腺癌,根据免疫组化染色考虑起源于肺。同时,基因检测发现BRAF V600E突变。最终诊断为BRAFV 600E突变型肺SRCA的结肠转移。考虑到该病例中表皮生长因子受体(EGFR)呈阳性表达,在一线治疗方案(达拉非尼和曲美替尼)中创新性地加入了西妥昔单抗。截至目前,该患者已接受了32周的治疗。有趣的是,肺部和肝脏肿瘤缩小,血液中的肿瘤标志物恢复正常。我们的研究结果为具有印戒细胞特征的BRAFV600E突变型原发性肺腺癌的结肠转移提供了有价值的诊断和治疗信息。

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