Role of microsatellite instability, immunohistochemistry and mismatch repair germline aberrations in immunosuppressed transplant patients: a phenocopy dilemma in Muir-Torre syndrome.

摘要: Sebaceous tumours and keratoacanthomas are uncommon neoplasms that constitute important clinical criteria for Muir-Torre syndrome (MTS) diagnosis. In MTS patients, the increased risk of developing synchronous or metachronous visceral malignancies is characterised by autosomal dominant inheritance. However, there further conditions, other than MTS, increase sebaceous neoplasms, e.g. iatrogenic immunosuppression. this latter scenario, can present microsatellite instability (MSI) loss mismatch repair (MMR) proteins, characteristic hereditary syndromes, even in absence MMR germline mutations. article, we examine transplant probands which immunosuppressive therapies unmask cutaneous phenotypes, showing MSI protein expression, as demonstrated immunohistochemistry (IHC). Furthermore, genes sequencing analysis identified presence mutations MTS-suspected individuals, a phenotype. It well known immunosuppression plays central role development both non-syndromic settings. skin tumours' status IHC profiles be influenced epigenetic factors; however, they valuable tools cost-effective approach to screen individuals who otherways should undergo direct context complex setting, choice drug becomes critical decision management sporadic may benefit from administration drugs, resulting low impact on cancerogenesis.