Zusammenfassung
Das Muir-Torre-Syndrom (MTS) ist eine seltene phänotypische Variante des hereditären non-polypösen kolorektalen Karzinoms (HNPCC, Lynch-Syndrom), bei der die Patienten neben viszeralen Karzinomen auch Hauttumore entwickeln. Charakteristisch sind dabei multiple Keratoakanthome, Basalzellkarzinome mit Talgdrüsendifferenzierung sowie die als Markerläsionen geltenden multiplen benignen und malignen Talgdrüsentumoren wie das Talgdrüsenadenom, das Talgdrüsenepitheliom (Synonym Sebazeom) und das Talgdrüsenkarzinom. Insbesondere zystische Talgdrüsentumoren sind typisch für das MTS. Die kutanen und viszeralen Tumoren manifestieren sich bei genetisch prädisponierten Personen erstmals im Alter von durchschnittlich 53 Jahren. Wir stellen einen interessanten Fall eines 65-jährigen Patienten vor, bei dem molekulargenetische Untersuchungen eine neue Mutation im MSH2-Gen zeigten, die zu einer Leserasterverschiebung innerhalb des Gens führte. Hierbei handelt es sich um eine Keimbahnmutation.
Abstract
Muir-Torre syndrome (MTS) is a rare phenotypic variant of hereditary non-polyposis colorectal carcinoma (HNPCC, Lynch syndrome), in which patients, in addition to visceral carcinomas, develop skin tumors. Multiple keratoacanthomas and basal cell carcinomas with sebocytic differentiation are characteristic as well as multiple benign and malignant tumors of the sebaceous glands, such as sebaceous adenoma, sebaceous epithelioma (sebaceoma) and sebaceous carcinoma. Particularly Cystic tumors of the sebaceous glands are especially suggestive of MTS. In genetically predisposed persons, cutaneous and visceral tumors are diagnosed at an average age of 53 years. Here we present an interesting case of a 65-year-old man in whom molecular genetic tests revealed a novel mutation in the MSH2 gene, leading to a frame shift within the gene.
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Gilly, B., Unholzer, A., Strobl-Wildemann, G. et al. Muir-Torre-Syndrom mit bisher nicht beschriebener Frameshift-Mutation im MSH2-Gen. Hautarzt 64, 290–294 (2013). https://doi.org/10.1007/s00105-012-2503-z
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DOI: https://doi.org/10.1007/s00105-012-2503-z