Extended genetic alterations in a patient with pulmonary sarcoidosis, a benign disease

Background: Genetic alterations at the microsatellite level have been detec ted in various human malignant tissues, but have also been found in chronic ally inflamed tissues. Sarcoidosis is a benign disease of unknown etiology characterized by chronic inflammation, which may be associated with an incr eased incidence of developing malignancy. Methods: We examined the microsat ellite alterations in a sputum cytological specimen of a patient with sarco idosis. The DNA electrophoretic pattern of sputum was compared with that of the peripheral blood. Thirty-two microsatellite markers located at chromos omes 2p, 3p, 8p, 9p, 9q, 17p, 17q were used to reveal genetic alterations. Results: Loss of heterozygosity (LOH) was detected in eleven markers in loc i 2p, 9p, 9q and 17q. LOH was observed in all four markers spanning the chr omosomal arm 17q11.2-q21, suggesting a potential chromosomal deletion. Conc lusion: The observation of LOH in all four markers spanning the chromosomal arm 17q11.2-q21 may suggest a potential for malignancy development in this patient, or may be linked to the aetiopathogenesis of sarcoidosis. Further microsatellite fine mapping and clinical follow up of this patient are nee ded to clarify this.