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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; Keratoacanthoma; MLH1-Related Hereditary Non-Polyposis Colon Cancer; MLH1-Related Muir-Torre Syndrome; MRTES; MSH2-Related Hereditary Non-Polyposis Colon Cancer; MSH2-Related Muir-Torre Syndrome; Muir-Torre syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, 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 (HPO, OMIM, Orphanet)
SNOMED CT: Torré-Muir syndrome (403824007); Muir-Torré syndrome (403824007); Torre-Muir syndrome (403824007)
 
Genes (locations): MLH1 (3p22.2); MSH2 (2p21-16.3)
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, stomach, ovary, small bowel, hepatobiliary tract, urinary tract, brain, and skin. In individuals with Lynch syndrome the following lifetime risks for cancer are seen: CRC: 52%-82% (mean age at diagnosis 44-61 years). Endometrial cancer in females: 25%-60% (mean age at diagnosis 48-62 years). Gastric cancer: 6%-13% (mean age at diagnosis 56 years). Ovarian cancer: 4%-12% (mean age at diagnosis 42.5 years; ~30% are diagnosed < age 40 years). The risk for other Lynch syndrome-related cancers is lower, though substantially increased over general population rates. [from GeneReviews]
Authors:
Wendy Kohlmann  |  Stephen B Gruber   view full author information

Clinical features

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.
Basal cell carcinoma
MedGen UID:
2870
Concept ID:
C0007117
Neoplastic Process
A malignant skin neoplasm that seldom metastasizes but has potentialities for local invasion and destruction. Clinically it is divided into types: nodular, cicatricial, morphaic, and erythematoid (pagetoid). They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck area and the remaining 15% on the trunk and limbs. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1471)
Colonic diverticula
MedGen UID:
3878
Concept ID:
C0012819
Disease or Syndrome
The presence of multiple diverticula of the colon.
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.
Adenoma sebaceum
MedGen UID:
75563
Concept ID:
C0265319
Neoplastic Process
Facial ANGIOFIBROMA in tuberous sclerosis
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 non-metastasizing neoplasm arising from any part of the digestive system.
Laryngeal carcinoma
MedGen UID:
108889
Concept ID:
C0595989
Neoplastic Process
A carcinoma of the larynx.
Breast carcinoma
MedGen UID:
146260
Concept ID:
C0678222
Neoplastic Process
A carcinoma arising from the breast, most commonly the terminal ductal-lobular unit. It is the most common malignant tumor in females. Risk factors include country of birth, family history, menstrual and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens, contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are adenocarcinomas (ductal or lobular). Breast carcinoma spreads by direct invasion, by the lymphatic route, and by the blood vessel route. The most common site of lymph node involvement is the axilla.
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.

Professional guidelines

PubMed

Weissman SM, Burt R, Church J, Erdman S, Hampel H, Holter S, Jasperson K, Kalady MF, Haidle JL, Lynch HT, Palaniappan S, Wise PE, Senter L
J Genet Couns 2012 Aug;21(4):484-93. Epub 2011 Dec 14 doi: 10.1007/s10897-011-9465-7. PMID: 22167527
Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group.
Genet Med 2009 Jan;11(1):35-41. doi: 10.1097/GIM.0b013e31818fa2ff. PMID: 19125126Free PMC Article
Trepanier A, Ahrens M, McKinnon W, Peters J, Stopfer J, Grumet SC, Manley S, Culver JO, Acton R, Larsen-Haidle J, Correia LA, Bennett R, Pettersen B, Ferlita TD, Costalas JW, Hunt K, Donlon S, Skrzynia C, Farrell C, Callif-Daley F, Vockley CW; National Society of Genetic Counselors.
J Genet Couns 2004 Apr;13(2):83-114. doi: 10.1023/B:JOGC.0000018821.48330.77. PMID: 15604628
Church J, Lowry A, Simmang C; Standards Task Force.; American Society of Colon and Rectal Surgeons.
Dis Colon Rectum 2001 Oct;44(10):1404-12. PMID: 11598466

External

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

Recent clinical studies

Etiology

Ponti G, Manfredini M, Pellacani G, Tomasi A
Clin Chem Lab Med 2016 Nov 1;54(11):1725-1731. doi: 10.1515/cclm-2015-1210. PMID: 27016151
Jessup CJ, Redston M, Tilton E, Reimann JD
Hum Pathol 2016 Mar;49:1-9. Epub 2015 Oct 31 doi: 10.1016/j.humpath.2015.10.005. PMID: 26826402
Wong CY, Tang RK, Lam RF, Io IY, Yuen CY, Ho JW, Tse RK
Semin Ophthalmol 2015;30(5-6):420-2. Epub 2013 Oct 11 doi: 10.3109/08820538.2013.833267. PMID: 24117411
Bhaijee F, Brown AS
Arch Pathol Lab Med 2014 Dec;138(12):1685-9. doi: 10.5858/arpa.2013-0301-RS. PMID: 25427047
Rios CA, Villalón R, Muñoz J, Acuña M, Cifuentes L
Sao Paulo Med J 2014;132(1):61-4. doi: 10.1590/1516-3180.2014.1321634. PMID: 24474082

Diagnosis

Le S, Ansari U, Mumtaz A, Malik K, Patel P, Doyle A, Khachemoune A
Dermatol Online J 2017 Nov 15;23(11) PMID: 29447627
Kim RH, Nagler AR, Meehan SA
J Am Acad Dermatol 2016 Nov;75(5):1078-1079. doi: 10.1016/j.jaad.2016.07.053. PMID: 27745640
Jessup CJ, Redston M, Tilton E, Reimann JD
Hum Pathol 2016 Mar;49:1-9. Epub 2015 Oct 31 doi: 10.1016/j.humpath.2015.10.005. PMID: 26826402
Hadravsky L, Kazakov DV, Stehlik J, Michal M, Curik R, Krupa P, Skalova A Jr, Kacerovska D
Am J Dermatopathol 2016 Aug;38(8):618-22. doi: 10.1097/DAD.0000000000000524. PMID: 26779764
Ponti G, Manfredini M, Tomasi A, Pellacani G
Gene 2016 Sep 10;589(2):127-32. Epub 2015 Jul 2 doi: 10.1016/j.gene.2015.06.078. PMID: 26143115

Therapy

Ponti G, Manfredini M, Pellacani G, Tomasi A
Clin Chem Lab Med 2016 Nov 1;54(11):1725-1731. doi: 10.1515/cclm-2015-1210. PMID: 27016151
Kyllo RL, Brady KL, Hurst EA
Dermatol Surg 2015 Jan;41(1):1-15. doi: 10.1097/DSS.0000000000000152. PMID: 25521100
Landis MN, Davis CL, Bellus GA, Wolverton SE
J Am Acad Dermatol 2011 Nov;65(5):1054-1058.e1. Epub 2011 May 6 doi: 10.1016/j.jaad.2010.08.003. PMID: 21550136
Levi Z, Hazazi R, Kedar-Barnes I, Hodak E, Gal E, Mor E, Niv Y, Winkler J
Am J Transplant 2007 Feb;7(2):476-9. Epub 2007 Jan 4 doi: 10.1111/j.1600-6143.2006.01648.x. PMID: 17229076
Graefe T, Wollina U, Schulz H, Burgdorf W
Dermatology 2000;200(4):331-3. doi: 10.1159/000018399. PMID: 10894967

Prognosis

Jessup CJ, Redston M, Tilton E, Reimann JD
Hum Pathol 2016 Mar;49:1-9. Epub 2015 Oct 31 doi: 10.1016/j.humpath.2015.10.005. PMID: 26826402
Hadravsky L, Kazakov DV, Stehlik J, Michal M, Curik R, Krupa P, Skalova A Jr, Kacerovska D
Am J Dermatopathol 2016 Aug;38(8):618-22. doi: 10.1097/DAD.0000000000000524. PMID: 26779764
Rios CA, Villalón R, Muñoz J, Acuña M, Cifuentes L
Sao Paulo Med J 2014;132(1):61-4. doi: 10.1590/1516-3180.2014.1321634. PMID: 24474082
Agiannidis C, Pana ZD, Molyva D, Kalokasidis K, Mixiou M
J Cutan Med Surg 2012 Nov-Dec;16(6):394-9. doi: 10.1177/120347541201600607. PMID: 23149194
Fernandez-Flores A
Am J Dermatopathol 2012 Jun;34(4):416-22. doi: 10.1097/DAD.0b013e3182226a28. PMID: 22123265

Clinical prediction guides

Jessup CJ, Redston M, Tilton E, Reimann JD
Hum Pathol 2016 Mar;49:1-9. Epub 2015 Oct 31 doi: 10.1016/j.humpath.2015.10.005. PMID: 26826402
Rios CA, Villalón R, Muñoz J, Acuña M, Cifuentes L
Sao Paulo Med J 2014;132(1):61-4. doi: 10.1590/1516-3180.2014.1321634. PMID: 24474082
Kleinerman R, Marino J, Loucas E
Dermatol Online J 2012 May 15;18(5):3. PMID: 22630573
Fernandez-Flores A
Am J Dermatopathol 2012 Jun;34(4):416-22. doi: 10.1097/DAD.0b013e3182226a28. PMID: 22123265
Gaskin BJ, Fernando BS, Sullivan CA, Whitehead K, Sullivan TJ
Br J Ophthalmol 2011 Dec;95(12):1686-90. Epub 2011 Oct 6 doi: 10.1136/bjophthalmol-2011-300612. PMID: 21979897

Recent systematic reviews

Sáchez Yus E, Requena L, Simón P, del Río E
Am J Dermatopathol 1995 Jun;17(3):213-21. PMID: 8599428

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