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Muir-Torré syndrome(MRTES)

MedGen UID:
231157
Concept ID:
C1321489
Neoplastic Process
Synonyms: Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas; MLH1-Related Muir-Torre Syndrome; MRTES; MSH2-Related Muir-Torre Syndrome; Muir-Torre syndrome
SNOMED CT: Torré-Muir syndrome (403824007); Muir-Torré syndrome (403824007); Torre-Muir syndrome (403824007)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Genes (locations): MLH1 (3p22.2); MSH2 (2p21-16.3)
 
Monarch Initiative: MONDO:0008018
OMIM®: 158320
Orphanet: ORPHA587

Disease characteristics

Excerpted from the GeneReview: Lynch Syndrome
Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate. Cancer risks and age of onset vary depending on the associated gene. Several other cancer types have been reported to occur in individuals with Lynch syndrome (e.g., breast, sarcomas, adrenocortical carcinoma). However, the data are not sufficient to demonstrate that the risk of developing these cancers is increased in individuals with Lynch syndrome. [from GeneReviews]
Authors:
Gregory Idos  |  Laura Valle   view full author information

Clinical features

From HPO
Laryngeal carcinoma
MedGen UID:
108889
Concept ID:
C0595989
Neoplastic Process
A carcinoma of the larynx.
Neoplasm of ovary
MedGen UID:
181539
Concept ID:
C0919267
Neoplastic Process
Ovarian cancer, the leading cause of death from gynecologic malignancy, is characterized by advanced presentation with loco-regional dissemination in the peritoneal cavity and the rare incidence of visceral metastases (Chi et al., 2001). These typical features relate to the biology of the disease, which is a principal determinant of outcome (Auersperg et al., 2001). Epithelial ovarian cancer is the most common form and encompasses 5 major histologic subtypes: papillary serous, endometrioid, mucinous, clear cell, and transitional cell. Epithelial ovarian cancer arises as a result of genetic alterations sustained by the ovarian surface epithelium (Stany et al., 2008; Soslow, 2008).
Malignant genitourinary tract tumor
MedGen UID:
322477
Concept ID:
C1834728
Neoplastic Process
The presence of a malignant neoplasm of the genital system.
Benign genitourinary tract neoplasm
MedGen UID:
854191
Concept ID:
C3804991
Neoplastic Process
A non-malignant neoplasm of the genitourinary system.
Skin basal cell carcinoma
MedGen UID:
1648304
Concept ID:
C4721806
Neoplastic Process
The presence of a basal cell carcinoma of the skin.
Colon cancer
MedGen UID:
2839
Concept ID:
C0007102
Neoplastic Process
A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma.
Colonic diverticula
MedGen UID:
3878
Concept ID:
C0012819
Disease or Syndrome
The presence of multiple diverticula of the colon.
Duodenal adenocarcinoma
MedGen UID:
82985
Concept ID:
C0278804
Neoplastic Process
A malignant epithelial tumor with a glandular organization that originates in the duodenum.
Benign gastrointestinal tract tumors
MedGen UID:
141680
Concept ID:
C0497538
Neoplastic Process
A neoplasm that arises from the digestive system and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.
Adenoma sebaceum
MedGen UID:
75563
Concept ID:
C0265319
Neoplastic Process
The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin.
Sebaceous gland carcinoma
MedGen UID:
64632
Concept ID:
C0206684
Neoplastic Process
A carcinoma that arises in a sebaseous gland (an exocrine gland of the skin that secretes sebum, a waxy substance)
Breast carcinoma
MedGen UID:
146260
Concept ID:
C0678222
Neoplastic Process
The presence of a carcinoma of the breast.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMuir-Torré syndrome
Follow this link to review classifications for Muir-Torré syndrome in Orphanet.

Professional guidelines

PubMed

Utikal J, Nagel P, Müller V, Becker JC, Dippel E, Frisman A, Gschnell M, Griewank K, Hadaschik E, Helbig D, Hillen U, Leiter U, Pföhler C, Krönig L, Ziemer M, Ugurel S
J Dtsch Dermatol Ges 2024 May;22(5):730-747. Epub 2024 Apr 28 doi: 10.1111/ddg.15405. PMID: 38679790
John AM, Schwartz RA
J Am Acad Dermatol 2016 Mar;74(3):558-66. doi: 10.1016/j.jaad.2015.09.074. PMID: 26892655
Hampel H, Peltomaki P
Clin Genet 2000 Aug;58(2):89-97. doi: 10.1034/j.1399-0004.2000.580201.x. PMID: 11005140

Curated

Society of Gynecologic Oncology (SGO) Clinical Practice Statement: Screening for Lynch Syndrome in Endometrial Cancer

Suggested Reading

Recent clinical studies

Etiology

Wu A, Rajak SN, Huilgol SC, James C, Selva D
Australas J Dermatol 2020 Aug;61(3):e283-e292. Epub 2020 Jan 19 doi: 10.1111/ajd.13234. PMID: 31956994
Schierbeck J, Vestergaard T, Bygum A
Acta Derm Venereol 2019 Apr 1;99(4):360-369. doi: 10.2340/00015555-3123. PMID: 30653245
Flux K
Surg Pathol Clin 2017 Jun;10(2):367-382. doi: 10.1016/j.path.2017.01.009. PMID: 28477886
Bhaijee F, Brown AS
Arch Pathol Lab Med 2014 Dec;138(12):1685-9. doi: 10.5858/arpa.2013-0301-RS. PMID: 25427047
Ponti G, Ponz de Leon M
Lancet Oncol 2005 Dec;6(12):980-7. doi: 10.1016/S1470-2045(05)70465-4. PMID: 16321766

Diagnosis

Gamret AC, Klingbeil KD, Fertig RM, Jahan-Tigh RR, Silapunt S, Uzoma M, Gaudi S, Romanelli P
Skinmed 2020;18(6):382-384. Epub 2020 Dec 1 PMID: 33397571
Wu A, Rajak SN, Huilgol SC, James C, Selva D
Australas J Dermatol 2020 Aug;61(3):e283-e292. Epub 2020 Jan 19 doi: 10.1111/ajd.13234. PMID: 31956994
Schierbeck J, Vestergaard T, Bygum A
Acta Derm Venereol 2019 Apr 1;99(4):360-369. doi: 10.2340/00015555-3123. PMID: 30653245
Flux K
Surg Pathol Clin 2017 Jun;10(2):367-382. doi: 10.1016/j.path.2017.01.009. PMID: 28477886
Bhaijee F, Brown AS
Arch Pathol Lab Med 2014 Dec;138(12):1685-9. doi: 10.5858/arpa.2013-0301-RS. PMID: 25427047

Therapy

Karampinis E, Kostopoulou C, Toli O, Marinos L, Papadimitriou G, Roussaki Schulze AV, Zafiriou E
Medicina (Kaunas) 2024 Feb 22;60(3) doi: 10.3390/medicina60030371. PMID: 38541097Free PMC Article
Knackstedt T, Samie FH
Curr Treat Options Oncol 2017 Aug;18(8):47. doi: 10.1007/s11864-017-0490-0. PMID: 28681210
Kyllo RL, Brady KL, Hurst EA
Dermatol Surg 2015 Jan;41(1):1-15. doi: 10.1097/DSS.0000000000000152. PMID: 25521100
Zampeli VA, Makrantonaki E, Tzellos T, Zouboulis CC
Curr Pharm Biotechnol 2012 Aug;13(10):1898-913. doi: 10.2174/138920112802273173. PMID: 22250709
Zouboulis CC, Boschnakow A
Clin Exp Dermatol 2001 Oct;26(7):600-7. doi: 10.1046/j.1365-2230.2001.00894.x. PMID: 11696064

Prognosis

Utikal J, Nagel P, Müller V, Becker JC, Dippel E, Frisman A, Gschnell M, Griewank K, Hadaschik E, Helbig D, Hillen U, Leiter U, Pföhler C, Krönig L, Ziemer M, Ugurel S
J Dtsch Dermatol Ges 2024 May;22(5):730-747. Epub 2024 Apr 28 doi: 10.1111/ddg.15405. PMID: 38679790
Hryhorowicz S, Kaczmarek-Ryś M, Lis-Tanaś E, Porowski J, Szuman M, Grot N, Kryszczyńska A, Paszkowski J, Banasiewicz T, Pławski A
Genes (Basel) 2022 Dec 10;13(12) doi: 10.3390/genes13122326. PMID: 36553592Free PMC Article
Roberts ME, Riegert-Johnson DL, Thomas BC, Rumilla KM, Thomas CS, Heckman MG, Purcell JU, Hanson NB, Leppig KA, Lim J, Cappel MA
Genet Med 2014 Sep;16(9):711-6. Epub 2014 Mar 6 doi: 10.1038/gim.2014.19. PMID: 24603434
Lachiewicz AM, Wilkinson TM, Groben P, Ollila DW, Thomas NE
Am J Clin Dermatol 2007;8(5):315-9. doi: 10.2165/00128071-200708050-00008. PMID: 17902735
Ponti G, Ponz de Leon M
Lancet Oncol 2005 Dec;6(12):980-7. doi: 10.1016/S1470-2045(05)70465-4. PMID: 16321766

Clinical prediction guides

Hryhorowicz S, Kaczmarek-Ryś M, Lis-Tanaś E, Porowski J, Szuman M, Grot N, Kryszczyńska A, Paszkowski J, Banasiewicz T, Pławski A
Genes (Basel) 2022 Dec 10;13(12) doi: 10.3390/genes13122326. PMID: 36553592Free PMC Article
Wang F, Wang XY, Jiang X
Dermatol Surg 2022 Aug 1;48(8):797-801. Epub 2022 Jun 21 doi: 10.1097/DSS.0000000000003506. PMID: 35917259Free PMC Article
Plotzke JM, Adams DJ, Harms PW
Histopathology 2022 Jan;80(1):166-183. doi: 10.1111/his.14441. PMID: 34197659
Kibbi N, Worley B, Owen JL, Kelm RC, Bichakjian CK, Chandra S, Demirci H, Kim J, Nehal KS, Thomas JR, Poon E, Alam M
Arch Dermatol Res 2020 Jan;312(1):25-31. Epub 2019 Aug 30 doi: 10.1007/s00403-019-01971-4. PMID: 31471636
Roberts ME, Riegert-Johnson DL, Thomas BC, Rumilla KM, Thomas CS, Heckman MG, Purcell JU, Hanson NB, Leppig KA, Lim J, Cappel MA
Genet Med 2014 Sep;16(9):711-6. Epub 2014 Mar 6 doi: 10.1038/gim.2014.19. PMID: 24603434

Recent systematic reviews

Aziz S, O'Sullivan H, Heelan K, Alam A, McVeigh TP
Fam Cancer 2023 Apr;22(2):167-175. Epub 2022 Nov 23 doi: 10.1007/s10689-022-00319-8. PMID: 36418753Free PMC Article
Cattelan L, Abi-Rafeh J, Brimo F, Kazan R, Redpath M, Chergui M
Am J Dermatopathol 2020 Sep;42(9):700-705. doi: 10.1097/DAD.0000000000001633. PMID: 32568842
Giridhar P, Kashyap L, Mallick S, Dutt Upadhyay A, Rath GK
Int J Dermatol 2020 Apr;59(4):494-505. Epub 2019 Dec 18 doi: 10.1111/ijd.14739. PMID: 31850516

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • SGO, 2014
      Society of Gynecologic Oncology (SGO) Clinical Practice Statement: Screening for Lynch Syndrome in Endometrial Cancer

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