Suppr超能文献

鼻腔软骨间叶性错构瘤(NCMH):一例罕见的成人男性 DICER1 相关肿瘤。

Nasal chondromesenchymal hamartoma (NCMH): a rare DICER1-associated tumour in an adult male.

机构信息

ENT, Guy's and St Thomas' NHS Foundation Trust, London, UK

ENT, Guy's and St Thomas' NHS Foundation Trust, London, UK.

出版信息

BMJ Case Rep. 2023 Nov 15;16(11):e254457. doi: 10.1136/bcr-2022-254457.

Abstract

An adult male presented to the ENT clinic with a 1-year history of unilateral nasal blockage. He had presented to another institution 5 years previously with the same issue, undergoing resection of what was reported to be a benign inflammatory polyp with osseous metaplasia. Detailed examination revealed a large mass filling the left nasal cavity. Excisional biopsy and secondary specialist review of pathology revealed nasal chondromesenchymal hamartoma (NCMH) with associated DICER1 mutations. NCMH is a rare, benign tumour of the sinonasal tract, presenting more often in the early childhood, with symptoms related to the site and extent of the tumour. As highlighted in this case, complete excision is mandatory for definitive diagnosis and treatment of NCMH, and an awareness of the association with DICER1 mutation, which can predispose individuals to a range of neoplasia, is key to providing appropriate genetic counselling.

摘要

一位成年男性因单侧鼻塞到耳鼻喉科就诊。他在 5 年前曾因同样的问题到另一家医疗机构就诊,当时接受了切除良性炎症性息肉伴骨化生的手术。详细检查显示左侧鼻腔内有一个大肿块。切除活检和病理科的进一步专家会诊显示为鼻腔软骨-间叶性错构瘤(NCMH),伴有 DICER1 突变。NCMH 是一种罕见的良性鼻窦肿瘤,更常发生于儿童早期,其症状与肿瘤的部位和范围有关。如本例所示,为了明确诊断和治疗 NCMH,必须进行完全切除,并且了解与 DICER1 突变的关联非常重要,因为 DICER1 突变会使个体易患多种肿瘤,这是提供适当遗传咨询的关键。

相似文献

6
Nasal chondromesenchymal hamartoma: a rare nasal benign tumor.鼻软骨间叶性错构瘤:一种罕见的鼻腔良性肿瘤。
Kulak Burun Bogaz Ihtis Derg. 2016 Sep-Oct;26(5):300-3. doi: 10.5606/kbbihtisas.2016.70852.
8
Nasal chondromesenchymal hamartoma with no nasal symptoms.无鼻部症状的鼻软骨间叶性错构瘤
BMJ Case Rep. 2012 May 30;2012:bcr1120125148. doi: 10.1136/bcr.11.2011.5148.
10
Nasal Chondromesenchymal Hamartoma.鼻腔软骨间叶性错构瘤。
Head Neck Pathol. 2020 Dec;14(4):1041-1045. doi: 10.1007/s12105-020-01179-3. Epub 2020 May 27.

本文引用的文献

2
Nasal Chondromesenchymal Hamartoma: A Rare Benign Lesion in Adult Female.鼻软骨间叶性错构瘤:成年女性中的一种罕见良性病变。
Indian J Otolaryngol Head Neck Surg. 2022 Oct;74(Suppl 2):1253-1255. doi: 10.1007/s12070-020-02333-7. Epub 2021 Jan 7.
3
Gene of the month: ruler and controller.本月基因:调节者与控制器
J Clin Pathol. 2021 Feb;74(2):69-72. doi: 10.1136/jclinpath-2020-207203. Epub 2020 Dec 8.
4
Recent trends in targeting miRNAs for cancer therapy.靶向 miRNA 治疗癌症的最新趋势。
J Pharm Pharmacol. 2020 Dec;72(12):1732-1749. doi: 10.1111/jphp.13351. Epub 2020 Aug 12.
5
Neoplasm Risk Among Individuals With a Pathogenic Germline Variant in DICER1.DICER1 种系致病性变异个体的肿瘤风险。
J Clin Oncol. 2019 Mar 10;37(8):668-676. doi: 10.1200/JCO.2018.78.4678. Epub 2019 Feb 4.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验