What is Muir Torre Syndrome

Muir-Torre Syndrome




Surname:Muir-Torre Syndrome
Synonyms:engl .: Muir-Torre syndrome; MTS
Inheritance:AD
Gene or gene product: DNA mismatch repair
Gene symbol: MSH2, MLH1
Gene locus: 3p21.3, 2p22-p21
MIM no .: 158320
Prevalence:
205 cases described

Symptoms:

Skin / mucous membrane - symptoms:

Muir-Torre syndrome, first described in 1967 and 1968, is a rare autosomal dominant disorder. It is characterized by the occurrence of multiple sebum tumors (adenomas, epitheliomas, carcinomas) with or without keratoacanthomas (i.e. occurrence simultaneously or sequentially) with at least one visceral malignancy without a predisposing factor (upper gastrointestinal tract, endometrium, colorectal and urological malignancies). The peak of manifestation of malignancies is on average 53 years (min. 23 to max. 89 years).

Sebaceous adenomas: Lobed sebum glands of various sizes, which are incompletely differentiated. The center of the peripheral, mature sebum glands is filled with basal cells (characteristic cytoplasmic vacuoles). In adults they appear as yellow papules and nodules, in the sporadic form they are mostly localized on the head (face, scalp, eyelids).

Sebaceous gland carcinomas: Localization mostly on the eyelids, starting from the Maibom's glands or Zeiss' glands; often confused with chalazion, chronic blepharitis, or carbuncles; appear as yellowish, firm nodules with a tendency to ulcerate; Infiltration of orbital adipose tissue; extraorbital carcinomas are prone to metastasis

Keratoacanthoma: benign epithelial skin tumor, in older people (> 65a) especially in sun-exposed areas (hands, face); hemispherical-knot-shaped with a central horn plug, reach a size of 1 to 3 centimeters in a few weeks, often spontaneous regression after 2 to 6 months.

Seboacanthoma: shows features of sebum adenoma and keratoacanthoma

56% of skin lesions appear after the diagnosis of the first malignancy; in 22% of cases, skin tumors are the first sign of the disease.

Described mutations:
probably 2 guys
  • Type 1 (positive microsatellite instability): Earlier onset of manifestation, mostly colorectal carcinoma, family history often had malignancies
  • Type 2 (microsatellite instability negative): later age of onset, family history of malignancy less often

(Symptomatic) therapy:

  • Annual clinical examination
  • Annual dermatological check-up - excision
  • Targeted cancer screening:
  • At regular intervals CEA, chest x-ray, SMEAR examination (cervix), urine cytology
  • Mammography (every 1-2 years, annually from the age of 50)
  • Colonoscopy (3-5 years from the 25th-30th year of life)
  • Abdominal / pelvic CT (2-5 years)
  • Endometrial biopsy (3-5 years from age 50)
  • Gastroscopy (family history of gastric cancer)
  • Genetic counseling (gene carrier / germline mutations - 80-100% risk of developing a malignancy)
  • Studies on chemoprevention of skin lesions are just beginning (isotretinoin oral + topical, combination of retinoids and interferon)

Self-help groups:

Austria:
not found

Germany:
not found

EU:
Belgium (2), France (1), Ireland (2) [all general cancer support groups!]