Exploring tonsil pathology in PTEN hamartoma syndrome: a cohort study.

IF 1.1 4区医学 Q3 OTORHINOLARYNGOLOGY Journal of Laryngology and Otology Pub Date : 2024-11-01 Epub Date: 2024-05-20 DOI:10.1017/S0022215124000975

Lauren M Cairns, Callum Findlay, Nimeshi Jayakody, Kwamena Amonoo-Kuofi, Nimesh N Patel, Katherine L Lachlan

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Abstract

Background: PTEN hamartoma tumour syndrome (PHTS) comprises a group of genetic disorders with varied clinical presentations, including macrocephaly, developmental delay, and increased cancer susceptibility. Recent reports have highlighted the occurrence of tonsil-related issues in PHTS.

Methods: Clinical data focusing on tonsil-related pathology and tonsillectomy details (indications, histology and post-operative complications) were collected from 53 patients with PHTS.

Results: Tonsil issues affected 58 per cent of the cohort, with 43 per cent requiring tonsillectomy. Primary indications for tonsillectomy included obstructive sleep apnoea (43 per cent), recurrent tonsillitis (17 per cent) and other causes (17 per cent). Tonsil-related problems were observed both before (45 per cent) and after (55 per cent) PHTS. Tonsillectomy with adenoidectomy was the predominant surgical intervention performed (87 per cent), spanning a broad age range (1-27 years old).

Discussion: Our findings highlight the complex nature of PHTS and its association with tonsil-related pathology, demonstrating its relevance for ENT surgeons. Early recognition and intervention are pivotal for managing sleep apnoea and the associated health problems.

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探索 PTEN Hamartoma 综合征的扁桃体病理学：队列研究

背景：PTEN hamartoma肿瘤综合征（PHTS）是一组遗传性疾病，临床表现多种多样，包括巨脑症、发育迟缓和癌症易感性增加。最近的报告强调了 PHTS 中扁桃体相关问题的发生：方法：收集 53 名 PHTS 患者的临床数据，重点是扁桃体相关病理和扁桃体切除术的细节（适应症、组织学和术后并发症）：结果：58%的患者有扁桃体问题，其中43%需要进行扁桃体切除术。扁桃体切除术的主要适应症包括阻塞性睡眠呼吸暂停（43%）、复发性扁桃体炎（17%）和其他原因（17%）。在 PHTS 之前（45%）和之后（55%）都发现了与扁桃体有关的问题。扁桃体切除术和腺样体切除术是最主要的外科手术（87%），手术年龄跨度很大（1-27 岁）：讨论：我们的研究结果突显了PHTS的复杂性及其与扁桃体相关病理的关联性，显示了其与耳鼻喉外科医生的相关性。早期识别和干预是控制睡眠呼吸暂停及其相关健康问题的关键。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Laryngology and Otology 医学-耳鼻喉科学

CiteScore

3.20

自引率

11.80%

发文量

593

审稿时长

3-6 weeks

期刊介绍： The Journal of Laryngology & Otology (JLO) is a leading, monthly journal containing original scientific articles and clinical records in otology, rhinology, laryngology and related specialties. Founded in 1887, JLO is absorbing reading for ENT specialists and trainees. The journal has an international outlook with contributions from around the world, relevant to all specialists in this area regardless of the country in which they practise. JLO contains main articles (original, review and historical), case reports and short reports as well as radiology, pathology or oncology in focus, a selection of abstracts, book reviews, letters to the editor, general notes and calendar, operative surgery techniques, and occasional supplements. It is fully illustrated and has become a definitive reference source in this fast-moving subject area. Published monthly an annual subscription is excellent value for money. Included in the subscription is access to the JLO interactive web site with searchable abstract database of the journal archive back to 1887.