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

Autor:	Cairns LM; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK.; Royal Berkshire Hospital, Royal Berkshire NHS Foundation Trust, Reading, UK., Findlay C; Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.; Department of Otolaryngology, Head and Neck Surgery, University Hospital Southampton NHS Foundation Trust, Southampton, UK., Jayakody N; Department of Otolaryngology, Head and Neck Surgery, University Hospital Southampton NHS Foundation Trust, Southampton, UK., Amonoo-Kuofi K; Department of Otolaryngology, Head and Neck Surgery, University Hospital Southampton NHS Foundation Trust, Southampton, UK., Patel NN; Department of Otolaryngology, Head and Neck Surgery, University Hospital Southampton NHS Foundation Trust, Southampton, UK., Lachlan KL; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK.; Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, UK.
Jazyk:	angličtina
Zdroj:	The Journal of laryngology and otology [J Laryngol Otol] 2024 Nov; Vol. 138 (11), pp. 1100-1102. Date of Electronic Publication: 2024 May 20.
DOI:	10.1017/S0022215124000975
Abstrakt:	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.
Databáze:	MEDLINE
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