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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.
Autosomal dominant inheritance (Orphanet)
 
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]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Genetically Related (Allelic) Disorders  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  Chapter Notes  |  References
Authors:
Gregory Idos  |  Laura Valle   view full author information

Additional description

From OMIM
Muir-Torre syndrome (MRTES) is an autosomal dominant disorder characterized by development of sebaceous gland tumors and skin cancers, including keratoacanthomas and basal cell carcinomas. Affected family members may manifest a wide spectrum of internal malignancies, which include colorectal, endometrial, urologic, and upper gastrointestinal neoplasms. Sebaceous gland tumors, which are rare in the general population, are considered to be the hallmark of MRTES, and may arise prior to the development of other visceral cancers (summary by Bapat et al., 1996).  http://www.omim.org/entry/158320

Clinical features

From HPO
Laryngeal carcinoma
MedGen UID:
108889
•Concept ID:
C0595989
•
Neoplastic Process
A carcinoma of the larynx.
See: Feature record | Search on this feature
Ovarian neoplasm
MedGen UID:
181539
•Concept ID:
C0919267
•
Neoplastic Process
A tumor (abnormal growth of tissue) of the ovary.
See: Feature record | Search on this feature
Malignant genitourinary tract tumor
MedGen UID:
322477
•Concept ID:
C1834728
•
Neoplastic Process
The presence of a malignant neoplasm of the genital system.
See: Feature record | Search on this feature
Benign genitourinary tract neoplasm
MedGen UID:
854191
•Concept ID:
C3804991
•
Neoplastic Process
A non-malignant neoplasm of the genitourinary system.
See: Feature record | Search on this feature
Skin basal cell carcinoma
MedGen UID:
1648304
•Concept ID:
C4721806
•
Neoplastic Process
The presence of a basal cell carcinoma of the skin.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Colonic diverticula
MedGen UID:
3878
•Concept ID:
C0012819
•
Disease or Syndrome
The presence of multiple diverticula of the colon.
See: Feature record | Search on this feature
Duodenal adenocarcinoma
MedGen UID:
82985
•Concept ID:
C0278804
•
Neoplastic Process
A malignant epithelial tumor with a glandular organization that originates in the duodenum.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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)
See: Feature record | Search on this feature
Breast carcinoma
MedGen UID:
146260
•Concept ID:
C0678222
•
Neoplastic Process
The presence of a carcinoma of the breast.
See: Feature record | Search on this feature
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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

S1-Guideline Sebaceous Carcinoma.
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
Lynch Syndrome and Muir-Torre Syndrome: An update and review on the genetics, epidemiology, and management of two related disorders.
Le S, Ansari U, Mumtaz A, Malik K, Patel P, Doyle A, Khachemoune A
Dermatol Online J 2017 Nov 15;23(11) PMID: 29447627
Muir-Torre syndrome (MTS): An update and approach to diagnosis and management.
John AM, Schwartz RA
J Am Acad Dermatol 2016 Mar;74(3):558-66. doi: 10.1016/j.jaad.2015.09.074. PMID: 26892655

Curated

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

Suggested Reading

PubMed

Genetics of Skin Cancer (PDQ®): Health Professional Version.
PDQ Cancer Genetics Editorial Board
2002 PMID: 26389333
Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version.
PDQ Cancer Genetics Editorial Board
2002 PMID: 26389258

Recent clinical studies

Etiology

Cutaneous sebaceous carcinoma.
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
Skin Cancer Associated Genodermatoses: A Literature Review.
Schierbeck J, Vestergaard T, Bygum A
Acta Derm Venereol 2019 Apr 1;99(4):360-369. doi: 10.2340/00015555-3123. PMID: 30653245
Sebaceous Neoplasms.
Flux K
Surg Pathol Clin 2017 Jun;10(2):367-382. doi: 10.1016/j.path.2017.01.009. PMID: 28477886
Muir-Torre syndrome.
Bhaijee F, Brown AS
Arch Pathol Lab Med 2014 Dec;138(12):1685-9. doi: 10.5858/arpa.2013-0301-RS. PMID: 25427047
Muir-Torre syndrome.
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

Cutaneous sebaceous carcinoma.
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
Skin Cancer Associated Genodermatoses: A Literature Review.
Schierbeck J, Vestergaard T, Bygum A
Acta Derm Venereol 2019 Apr 1;99(4):360-369. doi: 10.2340/00015555-3123. PMID: 30653245
Sebaceous Neoplasms.
Flux K
Surg Pathol Clin 2017 Jun;10(2):367-382. doi: 10.1016/j.path.2017.01.009. PMID: 28477886
Muir-Torre syndrome.
Bhaijee F, Brown AS
Arch Pathol Lab Med 2014 Dec;138(12):1685-9. doi: 10.5858/arpa.2013-0301-RS. PMID: 25427047
Muir-Torre syndrome.
Ponti G, Ponz de Leon M
Lancet Oncol 2005 Dec;6(12):980-7. doi: 10.1016/S1470-2045(05)70465-4. PMID: 16321766

Therapy

Multiple Keratoacanthoma-like Syndromes: Case Report and Literature Review.
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
Sebaceous Carcinoma: A Review of the Scientific Literature.
Knackstedt T, Samie FH
Curr Treat Options Oncol 2017 Aug;18(8):47. doi: 10.1007/s11864-017-0490-0. PMID: 28681210
Sebaceous carcinoma: review of the literature.
Kyllo RL, Brady KL, Hurst EA
Dermatol Surg 2015 Jan;41(1):1-15. doi: 10.1097/DSS.0000000000000152. PMID: 25521100
New pharmaceutical concepts for sebaceous gland diseases: implementing today's pre-clinical data into tomorrow's daily clinical practice.
Zampeli VA, Makrantonaki E, Tzellos T, Zouboulis CC
Curr Pharm Biotechnol 2012 Aug;13(10):1898-913. doi: 10.2174/138920112802273173. PMID: 22250709
Chronological ageing and photoageing of the human sebaceous gland.
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

S1-Guideline Sebaceous Carcinoma.
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
Strong Hereditary Predispositions to Colorectal Cancer.
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
A clinical scoring system to identify patients with sebaceous neoplasms at risk for the Muir-Torre variant of Lynch syndrome.
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
Muir-Torre syndrome.
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
Muir-Torre syndrome.
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

Strong Hereditary Predispositions to Colorectal Cancer.
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
Clinical Features and Prognosis of Young and Middle-Aged Adults With Skin Sebaceous Adenocarcinoma.
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
Molecular pathology of skin adnexal tumours.
Plotzke JM, Adams DJ, Harms PW
Histopathology 2022 Jan;80(1):166-183. doi: 10.1111/his.14441. PMID: 34197659
Sebaceous carcinoma: controversies and their evidence for clinical practice.
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
A clinical scoring system to identify patients with sebaceous neoplasms at risk for the Muir-Torre variant of Lynch syndrome.
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

Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review.
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
Metastatic Prostatic Adenocarcinoma in Patient With Muir-Torre Syndrome Misdiagnosed as Metastatic Sebaceous Carcinoma: Case Report and Systematic Literature Review.
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
Impact of surgery and adjuvant treatment on the outcome of extraocular sebaceous carcinoma: a systematic review and individual patient's data analysis of 206 cases.
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

    Reviews

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