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Family with MSH 2 mutation presenting with keratoacanthoma and precancerous skin lesions
Author(s) -
Hatta Naohito,
Takata Akiko,
Ishizawa Shin,
Niida Yo
Publication year - 2015
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 - 10.1111/1346-8138.12949
Subject(s) - actinic keratosis , medicine , dermatology , keratoacanthoma , dyskeratosis , lynch syndrome , cancer , msh2 , pathology , hyperkeratosis , colorectal cancer , dna mismatch repair , basal cell
Muir–Torre syndrome ( MTS ) is a familial cancer syndrome characterized by a predisposition to keratoacanthoma ( KA ) and sebaceous tumors. Although MTS and hereditary non‐polyposis colorectal cancer ( HNPCC ) share the same genetic alterations in mismatch repair ( MMR ) genes, the other skin lesions in MTS or HNPCC have been only rarely reported. We report a family with an MSH 2 mutation c.1126_1127del TT (p.Leu376Thrfs*12). A 46‐year‐old male proband developed KA with sebaceous differentiation, colon cancer and gastric cancer, and fulfilled the diagnostic criteria for MTS . His 80‐year‐old mother, diagnosed with HNPCC , presented with multiple gastrointestinal tract cancers, Bowen's disease and actinic keratosis. Immunostaining revealed attenuated MSH 2 protein expression in KA , as well as in Bowen's disease and actinic keratosis lesions. These findings suggest that MMR gene abnormality is also critical in the development of benign or malignant cutaneous tumors such as actinic keratosis and Bowen's disease in MTS / HNPCC patients.