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A Case of Multiple Sebaceous Epithelioma: Analysis of Microsatellite Instability
Author(s) -
Ueda Masato,
Wang Yin,
Sugimura Haruhiko,
Tamura Shingo,
Kondoh Masafumi,
Ichihashi Masamitsu
Publication year - 1999
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/j.1346-8138.1999.tb03451.x
Subject(s) - genodermatosis , microsatellite instability , basal cell epithelioma , sebaceous gland , malignancy , epithelioma , sebaceous carcinoma , biology , pathology , microsatellite , carcinoma , medicine , gene , genetics , basal cell , allele
Sebaceous gland tumor is a rare disease that is a sign of Muir‐Torre syndrome, an autosomal, dominantly inherited genodermatosis characterized by the presence of at least one sebaceous gland tumor and a minimum of one internal malignancy. Recent studies have indicated that defective DNA mismatch repair occurs in Muir‐Torre syndrome. Cutaneous lesions may occur before diagnosis of the internal cancer. We describe a 64‐year‐old male patient with multiple sebaceous epitheliomas with no evident internal malignancy. Microsatellite instability, determined by examining dinucleotide CA repeats at the microsatellite loci, was observed in DNA from one sebaceous epithelioma but not from the other two sebaceous epitheliomas or from one basal cell epithelioma with sebaceous differentiation, suggesting that this condition is unlikely to be due to germ‐line mutation of mismatch repair genes.