[Challenges for Urologists in the Care of Patients with Lynch Syndrome: Example of A Patient with Muir-Torre Syndrome, A Subtype of Lynch Syndrome].
The Muir-Torre syndrome (MTS) is a subtype of the Lynch syndrome (hereditary nonpolyposis colorectal cancer). In addition to tumours typically related to LS, MTS is associated with tumours of the sebaceous gland or keratoacanthoma. MTS is mostly characterised by a mutation of MSH2. In contrast to LS-associated tumours carrying a mutation of MLH1, MSH6 or PMS2, the frequency of urological neoplasms seems to be higher in Lynch syndrome patients with MSH2 mutation. Urological implications for the care of patients with LS or MTS include the early diagnosis of a possible hereditary background in patients presenting with urothelial cancers at an atypically young age and potentially the surveillance of carriers of mutations with an increased risk for urothelial cancers like males harbouring a MSH2 mutation. We report on a patient with various types of LS-associated cancers and cancers without a known association with LS, who died from multifocal metastasis of urothelial cancer. This case report shows that close interdisciplinary cooperation is mandatory for the treatment of patients with complex diseases.
Abteilung für Urologie, Bundeswehrkrankenhaus Ulm, Ulm.
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Löhmann
Hämato-onkologische Praxis, Ulm.
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Kächele
Abteilung für Urologie, Bundeswehrkrankenhaus Ulm, Ulm.
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Martinschek
Abteilung für Urologie, Bundeswehrkrankenhaus Ulm, Ulm.
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Sparwasser
D002295:Carcinoma, Transitional Cell / Q000175:diagnosis* / Q000473:pathology / Q000628:therapy*; D003131:Combined Modality Therapy; D018450:Disease Progression; D017809:Fatal Outcome; D006801:Humans; D033183:Interdisciplinary Communication; D000070516:Intersectoral Collaboration; D055847:Lynch Syndrome II / Q000175:diagnosis* / Q000473:pathology / Q000628:therapy*; D008297:Male; D008875:Middle Aged; D055653:Muir-Torre Syndrome / Q000175:diagnosis* / Q000473:pathology / Q000628:therapy*; D009367:Neoplasm Staging; D014516:Ureteral Neoplasms / Q000175:diagnosis* / Q000473:pathology / Q000628:therapy*