ENT, Guy's and St Thomas' NHS Foundation Trust, London, UK
ENT, Guy's and St Thomas' NHS Foundation Trust, London, UK.
BMJ Case Rep. 2023 Nov 15;16(11):e254457. doi: 10.1136/bcr-2022-254457.
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.
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。
