临床肿瘤学杂志2024,Vol.29Issue(5) :509-513.

中线癌的发病机制及诊疗进展

Pathogenesis and advances in the diagnosis and treatment of NUT carcinoma

吕超 叶卓淼 杨丹 牟方政 印明柱
临床肿瘤学杂志2024,Vol.29Issue(5) :509-513.

中线癌的发病机制及诊疗进展

Pathogenesis and advances in the diagnosis and treatment of NUT carcinoma

吕超 1叶卓淼 2杨丹 2牟方政 3印明柱2
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作者信息

  • 1. 404100 中国抗癌协会基因诊断专委会中线(NUT)癌工作组;404100 重庆大学附属三峡医院中医诊疗中心
  • 2. 404100 中国抗癌协会基因诊断专委会中线(NUT)癌工作组
  • 3. 404100 重庆大学附属三峡医院中医诊疗中心
  • 折叠

摘要

伴睾丸核蛋白(NUT)基因重排的中线癌又称NUT癌,NUT癌是一种罕见的高度侵袭性恶性肿瘤,具有发病年轻、进展迅速、常规治疗反应差等特征,绝大多数患者预后差.NUT癌的发病机制与NUT中线癌家族成员1(NUTM1)基因重排有关,重排的融合基因阻断细胞分化和促进癌细胞生长.目前临床对该病认识不足导致众多患者被误诊或漏诊,本文总结既往关于NUT癌的临床病理特征、发病机制及诊疗方式的相关报道,以提高对该病的临床认识.对于初诊伴肿瘤迅速进展或远处转移的低分化癌,建议积极完善NUT免疫组化检测,高度怀疑者进行基因测序以明确融合伴侣类型,治疗上传统治疗效果欠佳,通过多学科会诊拟定治疗方案并根据病情变化及时调整是最佳治疗方案.

Abstract

Midline carcinoma with nuclear protein in testis(NUT)gene rearrangement,also known as NUT carcinoma,is a rare and highly aggressive malignant tumor characterized by young onset,rapid progression,and poor response to conventional treatments,leading to a generally poor prognosis for the majority of patients.The pathogenesis of NUT carcinoma is associated with rearrangements of the NUT midline carcinoma family member 1(NUTM1)gene,where the resulting fusion genes block cellular differentiation and promote cancer cell growth.Insufficient clinical understanding of this disease currently results in many patients being misdiagnosed or undiagnosed.This article summarizes previous reports on the clinical pathological characteristics,pathogenesis,and relevant diagnostic and treatment methods of NUT carcinoma to enhance clinical awareness of the disease.For patients with initial diagnoses of poorly differentiated carcinoma accompanied by rapid tumor progression or distant metastasis,it is recommended to actively improve NUT immunohistochemical examinations.For those highly suspicious cases,genetic sequencing should be performed to determine the fusion partner type.Given the inadequate efficacy of conventional treatments,the best treatment approach involves formulating treatment plans through multidisciplinary consultations and adjusting them promptly according to changes in the patient's condition.

关键词

中线(NUT)癌/临床病理特征/诊断/治疗

Key words

NUT carcinoma/Clinicopathological features/Diagnosis/Treatment

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基金项目

重庆市博士后科学基金项目(CSTB2023NSCQ-BHX0047)

重庆市万州区科卫联合项目(wzstckw2023039)

出版年

2024
临床肿瘤学杂志
解放军第八一医院

临床肿瘤学杂志

CSTPCD
影响因子:1.583
ISSN:1009-0460
参考文献量2
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