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NUT中线癌:一种以染色体重排为特征的罕见实体瘤。

NUT Midline Carcinoma: A Rare Solid Tumour Characterized by Chromosome Rearrangement.

作者信息

Zhang Huan, Kong Weili, Liang Wei

机构信息

Department of Oncology, The Third Affiliated Hospital of Chongqing Medical University, Chongqing 401120, China.

Department of Otorhinolaryngology Head and Neck Surgery, West China Hospital, Sichuan University, Chengdu 610041, Sichuan, China.

出版信息

Evid Based Complement Alternat Med. 2022 Jul 4;2022:3369895. doi: 10.1155/2022/3369895. eCollection 2022.

Abstract

OBJECTIVE

Rare and poorly differentiated NUT midline carcinoma (NMC) is a highly malignant tumour. However, due to the rarity of NMC, reports on its clinical, imaging, and pathologic features are still scarce.

METHODS

In this study, three patients diagnosed with NMC located in the parotid gland, lung, and trachea were used as examples to summarize the clinicopathological features of NMC. All the cases were diagnosed by measuring positive nuclear reactivity to NUT antibody after dual-colour FISH tests were conducted, and all of the results were positive, indicating chromosomal rearrangements on 15q14 of the NUT gene.

RESULTS

These three patients were treated with conventional treatments, including surgical therapy and chemoradiotherapy. Given the poor efficacy of intensive conventional treatment, two novel therapies, histone deacetylase inhibitors (HDACi) and bromodomain inhibitors (BETi) are recommended, as both can arrest the growth of tumour cells, and these targeted therapies may extend patient survival time in the future.

CONCLUSIONS

NMC is an easily misdiagnosed cancer with a poor prognosis; therefore, improving the awareness of clinicians is critical for increasing the diagnostic accuracy, and selecting effective treatment is the main method to improve prognosis.

摘要

目的

罕见且低分化的NUT中线癌(NMC)是一种高度恶性的肿瘤。然而,由于NMC罕见,关于其临床、影像学和病理特征的报道仍然很少。

方法

在本研究中,以3例分别位于腮腺、肺和气管的NMC患者为例,总结NMC的临床病理特征。所有病例均通过双色荧光原位杂交检测后测量对NUT抗体的核反应阳性来确诊,所有结果均为阳性,表明NUT基因15q14存在染色体重排。

结果

这3例患者接受了包括手术治疗和放化疗在内的传统治疗。鉴于强化传统治疗效果不佳,推荐两种新型疗法,即组蛋白去乙酰化酶抑制剂(HDACi)和溴结构域抑制剂(BETi),因为二者均可抑制肿瘤细胞生长,且这些靶向治疗未来可能延长患者生存时间。

结论

NMC是一种易误诊且预后较差的癌症;因此,提高临床医生的认识对于提高诊断准确性至关重要,选择有效的治疗方法是改善预后的主要手段。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1344/9273375/c3b90096cbd9/ECAM2022-3369895.001.jpg

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