Analysis of microsatellite instability and loss of heterozygosity in keratoacanthoma |
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Authors: | K Peris Fabio Magrini Gisela Keller Liborio Manente Elvira D’Alessandro Maria Teresa Onorati Heinz Höfler Sergio Chimenti |
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Institution: | (1) Department of Dermatology, University of L’Aquila, Via Vetoio-Loc. Coppito 2, 67100 L’Aquila, Italy Tel. 0039-862-433505; Fax 0039-862-433433; e-mail peris@univaq.it, IT;(2) Cattedra di Genetica Medica, University of L’Aquila, Italy, IT;(3) Institute of Pathology, Technical University of Munich, Germany, DE |
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Abstract: | We analyzed microsatellite instability (MSI) and loss of heterozygosity (LOH) at 17 microsatellite markers located on chromosomes
2p, 3p, 5q, 6q, 9p, 9q, 17p and 18q in 19 randomly selected keratoacantomas (KAs), in one cutaneous lesion that histologically
could not unequivocally be differentiated from squamous cell carcinoma, and in one patient with multiple KAs of longstanding
duration. The goals of our study were to determine whether, in a similar manner to some visceral carcinomas, genomic instability
could be detected in KAs and to clarify whether molecular analysis might be useful to further characterize KA. MSI was observed
in 2 of 21 cases (9.5%) at 5 of 17 loci examined. In one patient with a solitary KA, the presence of MSI and a family history
of visceral malignant tumours suggested that the patient might have belonged to a family with Muir-Torre syndrome. In one
other MSI
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KA, a definite differential diagnosis in relation to squamous cell carcinoma could not be established. In addition, one sample
displayed LOH at 2 of 17 loci analysed whereas in the patient with multiple KAs, LOH at one locus was the only alteration
found. In conclusion, the low frequency of MSI and LOH detected in our study suggests that these genetic events are uncommon
in KA unless it is associated with a familial disease (e.g. Muir-Torre syndrome) or it has more aggressive histological features.
Received: 12 August 1996 |
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Keywords: | Microsatellite instability Loss of heterozygosity Keratoacanthoma |
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