Muir-Torre Syndrome

A form of LYNCH SYNDROME II associated with cutaneous SEBACEOUS GLAND NEOPLASMS. Muir-Torre syndrome is also associated with other visceral malignant diseases include colorectal, endometrial, urological, and upper gastrointestinal neoplasms.

Also Known As:

Networked: 48 relevant articles (1 outcomes, 2 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Carcinoma (Carcinomatosis)
2.	Neoplasms (Cancer)
3.	Hereditary Nonpolyposis Colorectal Neoplasms (Hereditary Nonpolyposis Colorectal Cancer)
4.	Microsatellite Instability
5.	Multiple Hamartoma Syndrome (Cowden's Disease)

Experts

1.	Lazar, Alexander J: 2 articles (08/2013 - 04/2012)
2.	Xu, Y: 1 article (08/2015)
3.	Kumar, V: 1 article (08/2015)
4.	Saurin, Jean-Christophe: 1 article (03/2015)
5.	Leroux, Dominique: 1 article (03/2015)
6.	Wang, Qing: 1 article (03/2015)
7.	Martin-Denavit, Tanguy: 1 article (03/2015)
8.	Attignon, Valéry: 1 article (03/2015)
9.	Joly, Marie-Odile: 1 article (03/2015)
10.	Giraud, Sophie: 1 article (03/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Muir-Torre Syndrome:

1.	DNA (Deoxyribonucleic Acid)IBA 02/01/2002 - "We have demonstrated in previous studies that DNA image cytometry (DNA ICM) can be helpful in detecting malignancy in sebaceous tumours of the Muir-Torre syndrome and sweat gland tumours. " 04/01/1998 - "DNA image cytometry in sebaceous tumours of the Muir-Torre syndrome." 02/01/2001 - "In Muir-Torre syndrome microsatellite instability can often be demonstrated in tumor DNA as a result of an inherited mutation in one of several known mismatch repair genes; however, the role of microsatellite instability in sporadic sebaceous carcinomas has not been previously studied. "
2.	Proteins (Proteins, Gene)IBA 08/01/2013 - "A review of the histology and immunohistochemistry for DNA mismatch repair proteins excluded Muir-Torre syndrome. " 12/01/2011 - "The aims of this study were to determine the significance of expression of DNA mismatch repair proteins in detecting systemic malignancies in a series of patients with periocular sebaceous cell carcinoma and to determine the clinical characteristics and frequency of Muir-Torre syndrome in this cohort. " 02/01/2008 - "The subtype of Muir-Torre syndrome, allelic to hereditary nonpolyposis colorectal cancer is typically associated with germline mutations in the mismatch repair proteins MSH-2 and/or MLH-1. " 01/01/2006 - "Muir-Torre Syndrome is a rare autosomal dominant genodermatosis associated with mutations in mismatch repair proteins, hMSH-2 and hMLH-1, which predispose affected patients to visceral malignancies as well as sebaceous gland neoplasms." 03/01/2002 - "Loss of DNA mismatch repair proteins in skin tumors from patients with Muir-Torre syndrome and MSH2 or MLH1 germline mutations: establishment of immunohistochemical analysis as a screening test."
3.	Lynch cancer family syndrome 2IBA 06/01/1997 - "A subgroup of patients with the Muir-Torre syndrome (MTS) is allelic to the cancer family syndrome. " 08/01/1994 - "Muir-Torre syndrome: a variant of the cancer family syndrome." 01/01/1994 - "Genetic linkage in Muir-Torre syndrome to the same chromosomal region as cancer family syndrome." 09/01/1985 - "Muir-Torre syndrome in several members of a family with a variant of the Cancer Family Syndrome." 08/01/1987 - "The Muir-Torre syndrome is a subtype of the cancer family syndrome, with gastrointestinal tract tumors being the most frequent visceral malignancies. "
4.	Isotretinoin (Accutane)FDA LinkGeneric 11/01/1998 - "Isotretinoin for sebaceous skin lesions in Muir-Torre syndrome: a case report." 03/01/1985 - "It speculates on the prevention of future internal malignancies in Muir-Torre syndrome patients by maintenance oral isotretinoin treatment." 03/01/1985 - "Oral isotretinoin therapy for familial Muir-Torre syndrome." 10/01/2001 - "A combination of isotretinoin and interferon-alpha may prevent tumour development in patients with Muir-Torre syndrome." 01/01/2000 - "Muir-Torre syndrome - treatment with isotretinoin and interferon alpha-2a can prevent tumour development."
5.	Turcot syndromeIBA 05/01/2012 - "Muir-Torre Syndrome / Turcot Syndrome overlap? " 11/01/2003 - "By analogy with several other genetic disorders, it is clearly emerging that the term HNPCC encompasses a wide spectrum of different clinical presentations, including Muir-Torre syndrome, Turcot syndrome, and the neurofibromatosis-hematological malignancy association. " 01/01/2014 - "There are variants of both familial adenomatous polyposis (Gardner syndrome--with extracolonic features--and Turcot syndrome, which features medulloblastoma) and Lynch syndrome (Muir-Torre syndrome features sebaceous skin carcinomas, and Turcot syndrome features glioblastomas). " 08/01/2000 - "There are at least nine major cancer susceptibility syndromes that infer an increased risk for colorectal cancer and/or colorectal polyposis; hereditary nonpolyposis colorectal cancer syndrome, Muir-Torre syndrome, Turcot syndrome, the I1307K polymorphism of the APC gene, familial adenomatous polyposis, attenuated familial adenomatous polyposis, Peutz Jeghers syndrome, juvenile polyposis, and the PTEN hamartoma tumor syndrome. "
6.	N-methylsuccinimideIBA 03/01/1997 - "In one patient with a solitary KA, the presence of MSI and a family history of visceral malignant tumours suggested that the patient might have belonged to a family with Muir-Torre syndrome. " 03/01/2015 - "Somatic MMR gene mutations as a cause for MSI-H sebaceous neoplasms in Muir-Torre syndrome-like patients." 08/01/2013 - "Most examples of hereditary non-polyposis cancer syndrome (Lynch syndrome), including the Muir-Torre syndrome, are associated with microsatellite instability (MSI) and germline mutations in mismatch repair genes-most commonly MLH1 or MSH2. " 05/01/2002 - "Moreover, MSI has been observed in skin tumors arising in the context of some hereditary disorders such as Muir-Torre syndrome, Von Recklinghausen's disease and disseminated superficial porokeratosis. "
7.	Cyclosporine (Ciclosporin)FDA LinkGeneric 05/01/2011 - "The cutaneous effects of post-transplant immunosuppression with cyclosporine in Muir-Torre syndrome." 10/01/2001 - "In addition to spontaneous single tumours, sebaceous gland carcinomas have been reported in immune-suppressed transplant recipients (azathiorpine, cisplatin, cyclosporin A) and in association with the Muir-Torre syndrome. "
8.	Attenuated familial adenomatous polyposisIBA 11/01/2005 - "Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations.Peculiar" 11/01/2005 - "Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations." 08/01/2000 - "There are at least nine major cancer susceptibility syndromes that infer an increased risk for colorectal cancer and/or colorectal polyposis; hereditary nonpolyposis colorectal cancer syndrome, Muir-Torre syndrome, Turcot syndrome, the I1307K polymorphism of the APC gene, familial adenomatous polyposis, attenuated familial adenomatous polyposis, Peutz Jeghers syndrome, juvenile polyposis, and the PTEN hamartoma tumor syndrome. "
9.	Bazex-Dupre-Christol syndromeIBA 01/01/2008 - "Main differential diagnoses include Bazex syndrome, trichoepithelioma papulosum multiplex and Torre's syndrome (Muir-Torre's syndrome). " 11/01/2005 - "This article reviews the clinical and genetic aspects of inherited syndromes that are characterised by skin appendage neoplasms, including Cowden syndrome, Birt-Hogg-Dube syndrome, naevoid basal cell carcinoma syndrome, generalised basaloid follicular hamartoma syndrome, Bazex syndrome, Brooke-Spiegler syndrome, familial cylindromatosis, multiple familial trichoepitheliomas, and Muir-Torre syndrome."
10.	Familial cylindromatosisIBA 04/01/2014 - "The specific diagnosis of adnexal tumors is important because some lesions such as sebaceous neoplasms, cylindromas, or fibrofolliculomas are herald lesions of hereditary tumor syndromes (e.g., Muir-Torre syndrome, familial cylindromatosis, Birt-Hogg-Dubé syndrome). " 11/01/2005 - "This article reviews the clinical and genetic aspects of inherited syndromes that are characterised by skin appendage neoplasms, including Cowden syndrome, Birt-Hogg-Dube syndrome, naevoid basal cell carcinoma syndrome, generalised basaloid follicular hamartoma syndrome, Bazex syndrome, Brooke-Spiegler syndrome, familial cylindromatosis, multiple familial trichoepitheliomas, and Muir-Torre syndrome."

Therapies and Procedures

1.	Transplants (Transplant) 03/01/2013 - "Borderline sebaceous neoplasm in a renal transplant patient without Muir-Torre syndrome." 03/01/2003 - "Between 1993 and 1998, 231 appendageal tumors were identified in 211 individuals; 23 tumors were found in 21 of 650 patients undergoing transplant (3%), 10 in individuals with other immunosuppressive conditions, 3 in 2 patients with Muir-Torre syndrome, and 195 in 178 apparently ICP. " 02/01/2001 - "The presence of microsatellite instability in transplant-associated lesions, together with loss of hMSH2 expression suggests that immunosuppression might unmask a previously silent Muir-Torre syndrome phenotype in some cases. " 02/01/2001 - "Microsatellite instability was demonstrable in three cases: in the Muir-Torre syndrome-associated tumor and in two tumors from transplant patients. " 05/01/2011 - "The cutaneous effects of post-transplant immunosuppression with cyclosporine in Muir-Torre syndrome."
2.	Transplantation (Transplant Recipients) 02/01/2007 - "We describe a kidney transplant recipient with unrecognized Muir-Torre syndrome in whom the administration of a tacrolimus-based regimen led to the eruption of multiple sebaceous tumors. " 10/01/2001 - "In addition to spontaneous single tumours, sebaceous gland carcinomas have been reported in immune-suppressed transplant recipients (azathiorpine, cisplatin, cyclosporin A) and in association with the Muir-Torre syndrome. "
3.	Renal Dialysis (Hemodialysis) 04/01/2001 - "Right-sided non-bacterial thrombotic endocarditis in a chronic hemodialysis patient with Muir-Torre syndrome."
4.	Gastrectomy 07/01/2012 - "Polypoid adenocarcinoma in the efferent jejunal loop after total gastrectomy in a Muir-Torre syndrome patient."
5.	Enema (Enemas) 10/01/1993 - "After disclosure of a jejunal tumour on a small bowel enema and given the remarkable family history characterized by the frequent occurrence of bowel cancer, the diagnosis of Muir-Torre syndrome was established. "