Muir torre syndrome Q87.89

Rare, familial (autosomal-dominant inherited) and sporadic tumor syndrome (see also genodermatoses tumor-associated), characterized by:

• multiple benign and malignant skin tumors(sebaceous gland neoplasms, basal cell carcinomas, keratoacanthomas)
• and
• carcinomas of internal organs: colorectal carcinoma (49%), carcinomas of the genitourinary tract (20%); breast carcinomas (10%); myeloproliferative disorders (9%), carcinomas of the upper gastrointestinal tract (7%).

It can be assumed that Muir-Torre syndrome is a (minus) variant of"hereditary nonpolyposis colon cancer syndrome"/HNPCC/Lynch syndrome type II), in which mutations occur in the same gene.

Autosomal dominant genetic disorder.

Mutation of the MSH2 gene, which is localized on gene locus 2p21

and more rarely

of the genes MLH1(gene locus 3p22) and MSH6

with consecutive disturbance of DNA mismatch repair (see below DNA repair). Also conceivable are unmaskings of a latent Muir-Torre syndrome under long-term immunosuppressive therapy, e.g. with ciclosporin A.

Skin changes often occur in early adulthood, usually a decade before the internal tumor appears. The manifestation peak of internal malignancies is on average 53 years.

Multiple, cutaneous or extracutaneous, primary carcinomas (mainly adenocarcinomas of the gastrointestinal tract, spinocellular carcinoma of the skin) as well as synchronously or metachronously occurring benign and malignant sebaceous gland tumors(sebaceous gland adenomas, sebaceomas, sebaceous gland carcinomas) and basal cell carcinomas. However, emerging sebaceous gland carcinomas behave less aggressively than spontaneously occurring sebaceous gland carcinomas.

MTS is suspected in patients without internal malignancies in the EA if at least 3 of the criteria listed below are present (mod. n. Ko):

• Age: Sebaceous gland tumors aged < 50 years.
• Localization: sebaceous gland tumors outside face and neck.
• Number: 2 or > 2 sebaceous gland tumors.
• FA: Internal malignancies (mainly colorectal or urogenital tumors) in 2 or > 2 first-degree relatives
• Histology: Cystic or keratoacanthoma-like structure.
• Immunohistochemistry: deficiency of MSH2 or MLH1
• Molecular pathology: evidence of microsatellite instability

Timely diagnosis of Torre-Muir syndrome is crucial to initiate preventive measures or necessary surgical procedures.

Screening examinations every 3-6 months, colonoscopy every 2 years (colon carcinomas represent most frequent tumor entity). Avoidance of immunosuppressive therapy (e.g. long-term high-dose administration of glucocorticoids).

Surgical procedure for internal tumors. Excision of the appearing keratoacanthomas as well as the sebaceous gland tumors with histological workup.

The tendency of carcinomas occurring in the context of this syndrome to metastasize is lower than in solitary occurrence. A closely meshed tumour prevention programme (annual endoscopic examinations, urological controls) is necessary.

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