Exploring tonsil pathology in PTEN hamartoma syndrome: a cohort study

Area of Science:

• Otolaryngology
• Genetics
• Pediatric Medicine

Background:

• PTEN hamartoma tumour syndrome (PHTS) is a group of genetic disorders.
• PHTS presents with diverse symptoms including macrocephaly, developmental delay, and cancer risk.
• Tonsil-related issues are increasingly recognized in PHTS patients.

Purpose of the Study:

• To investigate the prevalence and characteristics of tonsil pathology in patients with PHTS.
• To analyze indications, procedures, and outcomes of tonsillectomy in the PHTS cohort.
• To underscore the significance of tonsil-related issues for otolaryngologists managing PHTS.

Main Methods:

• Retrospective collection of clinical data from 53 PHTS patients.
• Focus on tonsil pathology, tonsillectomy indications, histology, and complications.
• Analysis of surgical interventions, primarily tonsillectomy with adenoidectomy.

Main Results:

• Tonsil issues affected 58% of the PHTS cohort; 43% required tonsillectomy.
• Obstructive sleep apnea was the primary indication for tonsillectomy (43%).
• Tonsil problems occurred both pre- and post-PHTS diagnosis, with surgery across a wide age range.

Conclusions:

• PHTS is associated with significant tonsil-related pathology.
• ENT surgeons must be aware of these tonsil issues in PHTS patients.
• Early identification and management of sleep apnea are crucial for PHTS patients.