Otolaryngologic evaluation and management of nasal chondromesenchymal hamartoma

Abstract

Introduction

Nasal chondromesenchymal hamartoma (NCMH) is a rare benign tumor of the nasal cavity and paranasal sinuses. Its clinical relevance has increased following the discovery of its association with DICER1 syndrome—a genetic condition predisposing individuals to multiple neoplasms. These two cases highlight important clinical extremes of this disease entity and offer practical evaluation and management recommendations for practicing otolaryngologists.

Methods

A retrospective review was conducted from 1999 to 2025 at a single institution. The report includes two female teenagers presented at ages 13 and 17 years, respectively, diagnosed with NCMH—one with and one without DICER1 syndrome. Key outcomes included recurrence rates, anatomical spread, genetic testing results (including evaluation for DICER1 variants), and disease-status at follow-up. A thorough literature review on NCMH and DICER1 syndrome was conducted to provide the reader with management recommendations.

Results

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  Case 1. A 13-year-old female with NCMH in the left ethmoid sinus underwent complete surgical resection and had no pathogenic DICER1 variants detected. No recurrence was observed after 3 years.
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  Case 2. A 17-year-old female with DICER1 syndrome experienced multiple recurrences of NCMH after initial diagnosis, requiring five surgical resections. She had bilateral disease and skull base involvement. She remains disease-free one year after her last surgery.

Conclusions

Genetic testing for DICER1 variants should be standard in all newly diagnosed NCMH cases. Annual nasal endoscopic and imaging follow up is recommended in all individuals with a constitutional or mosaic pathogenic DICER1 variant. There is no published guidance for recurrent NCMH at the olfactory groove/cribriform plate region. Conservative local excisions should be pursued for tumor recurrences.