Microsatellite DNA instability in nasal polyposis

Authors


Abstract

Objective:

Genetic alterations, such as microsatellite instability (MSI) and loss of heterozygosity (LOH), have been detected in various inflammatory diseases, providing evidence that acquired somatic mutations might play a role in the aetiopathogenesis of chronic inflammatory conditions. The aim of this study is to assess the presence of MSI and/or LOH in nasal cytology of patients with nasal polyps.

Study Design:

Prospective case-controlled basic science experiment utilizing human blood and human nasal brush samples.

Methods:

Nasal brush samples and peripheral blood from 12 patients with nasal polyps were analyzed. DNA was extracted and analyzed for MSI and LOH using the following microsatellite markers: D2S2113, D6S344, D6S1002, D11S1253, D11S480, USAT24G1, and D13S273, harboring potential susceptibility genes for nasal polyposis. Microsatellite DNA analysis was also performed in 7 control subjects.

Results:

MSI or LOH were revealed in 3 specimens of the nasal polyps group. Among these there were 2 cases of LOH, one for marker D11S1273 and one for D13S273, and one case of MSI in marker USAT24G1. Each one of these alterations was detected in a different patient. None of the control subjects exhibited any genetic alterations in the 7 markers tested.

Conclusions:

This is the first time that microsatellite genetic alterations are reported in nasal disease. The presence of such alterations suggests that acquired genomic somatic mutations might play a role in the pathogenesis of nasal polyps. Laryngoscope, 2009

Ancillary