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病例报告:一名胰腺导管腺癌患者中融合基因的鉴定。

Case report: identification of fusion in a patient with pancreatic ductal adenocarcinoma.

作者信息

Ma Jia, Wang Baosheng, Meng Erhong, Meng Xiangpeng

机构信息

Department of Gastroenterology, The Fourth Affiliated Hospital of China Medical University, Shenyang, China.

Pancreatic Endocrinology Ward, Department of General Surgery, Shengjing Hospital of China Medical University, Shenyang, China.

出版信息

Gland Surg. 2021 Sep;10(9):2874-2879. doi: 10.21037/gs-21-469.

DOI:10.21037/gs-21-469
PMID:34733735
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8514310/
Abstract

Pancreatic ductal adenocarcinoma (PDAC) is an aggressive malignancy. Currently, treatment strategies for PDAC are limited because its molecular characteristics have not yet been clarified. Different fusions have been reported in diverse solid tumors, especially in non-small cell lung cancer (NSCLC) and papillary thyroid carcinoma (PTC). Multikinase inhibitors (MKIs) such as cabozantinib, vandetanib and lenvatinib, as well as selective inhibitors of alterations like selpercatinib (LOXO-292) and pralsetinib (BLU-667) have been approved by the Food and Drug Administration (FDA) for patients with fusion-positive tumors, such as thyroid cancer, renal cell, NSCLC, and so on. However, few studies have been reported about the association between fusions and PDAC. fusion is a rare rearrangement. To date, it has only been reported in lung cancer and thyroid cancer. Studies of fusion in PDAC have not yet been explored. In this study, we reported an fusion in a 60-year-old female patient with PDAC. To the best of our knowledge, this case was the first report about fusion in a patient with PDAC. It is a pity that the patient refused targeted therapy for personal reasons. Our study has shed a new light on the companion diagnostics and targeted therapy for the patients with PDAC.

摘要

胰腺导管腺癌(PDAC)是一种侵袭性恶性肿瘤。目前,PDAC的治疗策略有限,因为其分子特征尚未明确。不同的融合在多种实体瘤中已有报道,尤其是在非小细胞肺癌(NSCLC)和甲状腺乳头状癌(PTC)中。卡博替尼、凡德他尼和乐伐替尼等多激酶抑制剂(MKIs),以及塞尔帕替尼(LOXO-292)和普拉替尼(BLU-667)等针对特定改变的选择性抑制剂已被美国食品药品监督管理局(FDA)批准用于治疗融合阳性肿瘤患者,如甲状腺癌、肾细胞癌、NSCLC等。然而,关于融合与PDAC之间关联的研究报道较少。融合是一种罕见的重排。迄今为止,仅在肺癌和甲状腺癌中有报道。尚未对PDAC中的融合进行研究。在本研究中,我们报告了一名60岁PDAC女性患者存在融合。据我们所知,该病例是关于PDAC患者中融合的首例报道。遗憾的是,患者因个人原因拒绝了靶向治疗。我们的研究为PDAC患者的伴随诊断和靶向治疗提供了新的线索。