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: 64 relevant articles (2 outcomes, 6 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Neoplasms (Cancer)
2.	Adenocarcinoma
3.	Carcinoma (Carcinomatosis)
4.	Microsatellite Instability
5.	Hereditary Nonpolyposis Colorectal Neoplasms (Hereditary Nonpolyposis Colorectal Cancer)

Experts

1.	Cortes Barrantes, Paula: 3 articles (08/2020 - 01/2020)
2.	Jakobiec, Frederick A: 3 articles (08/2020 - 01/2020)
3.	Milman, Tatyana: 3 articles (08/2020 - 01/2020)
4.	Fernandez-Flores, Angel: 2 articles (01/2017 - 06/2012)
5.	Farr, Morgan A: 1 article (01/2022)
6.	Joshi, Tejas P: 1 article (01/2022)
7.	Kolb, F: 1 article (01/2022)
8.	Lewis, Daniel J: 1 article (01/2022)
9.	Lupu, J: 1 article (01/2022)
10.	Miao, Y: 1 article (01/2022)

Drugs and Biologics

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

1.	DNA (Deoxyribonucleic Acid)IBA 04/01/1998 - "DNA image cytometry in sebaceous tumours of the Muir-Torre syndrome." 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. " 01/01/2020 - "This article describes the DNA MMR system and its implication in sebaceous tumors as well as discusses the recent recommendations for screening for Muir-Torre syndrome (MTS) in patients presenting with sebaceous tumors." 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. " 10/29/2019 - "We diagnosed her with Muir-Torre syndrome based on the following evidence: 1) high prevalence of microsatellite instability in gene locus assay, 2) absence of mismatch repair proteins in the sebaceous carcinoma on immunohistochemical analysis, and 3) a genetic mutation of 1226_1227delAG in the MSH2 exon 7 in the lesion detected by DNA sequencing analysis. "
2.	Immune Checkpoint InhibitorsIBA 01/01/2020 - "Cancer immune-interception for prevention of recurrence in patients with high-risk familial cancer like Muir-Torre syndrome or Lynch syndrome using immune checkpoint blockade inhibitors is a promising approach. " 01/01/2023 - "A significant reduction in tumor volume in response to the combination of immune checkpoint inhibition and androgen deprivation therapy is described in this report of a male with Muir-Torre syndrome who was found to have locally advanced adenocarcinoma of the prostate. "
3.	AndrogensIBA 01/01/2023 - "A significant reduction in tumor volume in response to the combination of immune checkpoint inhibition and androgen deprivation therapy is described in this report of a male with Muir-Torre syndrome who was found to have locally advanced adenocarcinoma of the prostate. " 01/01/2023 - "First-line pembrolizumab plus androgen deprivation therapy for locally advanced microsatellite instability-high prostate cancer in a patient with Muir-Torre syndrome: A case report."
4.	Proteins (Proteins, Gene)FDA Link 03/01/2020 - "DNA mismatch repair protein expression studies disclosed loss of nuclear immunostaining of MSH6 protein, pointing to the possibility of an underlying rare MSH6 variant of the Muir-Torre syndrome, not yet described in the ophthalmic literature. " 01/01/2020 - "An Intrapatient Concordance Study of Mismatch Repair Protein Immunohistochemical Staining Patterns in Patients With Muir-Torre Syndrome." 07/01/2014 - "Immunohistochemical studies to determine any possible association with the Muir-Torre syndrome were performed and mismatch repair protein loss was not identified. " 03/01/2020 - "This case report illustrates the importance of the multidisciplinary care approach, mismatch repair protein and gene testing, and detailed medical history taking into consideration the diagnosis of Muir-Torre syndrome." 12/01/2017 - "To verify the possibility of Muir-Torre syndrome we performed immunohistochemical examination of DNA mismatch repair proteins expression. "
5.	AntibodiesIBA 01/01/2017 - "We performed an immunohistochemical study with antibodies against MSH6, MSH2, MLH1, and PMS2, which demonstrated preserved nuclear expression of the mismatch repair proteins, therefore ruling out Muir-Torre syndrome."
6.	Isotretinoin (Accutane)FDA LinkGeneric 11/01/1998 - "Isotretinoin for sebaceous skin lesions in Muir-Torre syndrome: a case report." 03/01/1985 - "Oral isotretinoin therapy for familial Muir-Torre syndrome." 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 - "This report emphasizes (1) the rationale for the use of isotretinoin in the Muir-Torre syndrome and (2) the potential for a familial pattern of inheritance and a possible association with the cancer family syndrome. " 01/01/2022 - "Isotretinoin as chemoprophylaxis for cutaneous malignancies in Muir-Torre syndrome: A novel concept."
7.	A-Form DNA (A-DNA)IBA 12/01/2023 - "Sebaceous carcinoma (SC) is a rare, potentially recurrent, and life-threatening cutaneous malignancy that can be associated with Muir-Torre syndrome (MTS), a DNA mismatch repair-driven genodermatosis. " 01/01/2022 - "Keratoacanthoma or cutaneous squamous cell carcinoma revealing a DNA mismatch repair default (Muir-Torre Syndrome)."
8.	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. "
9.	RetinoidsIBA 11/01/2023 - "Retinoid use in Muir-Torre syndrome: a forgotten miracle drug." 01/01/2000 - "The combination of IFN with retinoids seems to be of promise to prevent tumour development in Muir-Torre syndrome."
10.	pembrolizumabIBA 01/01/2020 - "We report the case of a man with Muir-Torre syndrome who had 136 cutaneous or visceral hyperplastic or neoplastic lesions over a period of 19 years (mean 7.5 neoplasms/year, range 2-26) prior to receiving pembrolizumab immunotherapy as part of multi-modality treatment for invasive bladder cancer. " 01/01/2023 - "First-line pembrolizumab plus androgen deprivation therapy for locally advanced microsatellite instability-high prostate cancer in a patient with Muir-Torre syndrome: A case report."

Therapies and Procedures

1.	Therapeutics 10/29/2019 - "This case report not only highlights the importance of adequate diagnosis and therapy for Muir-Torre syndrome, but also suggests the further prevention of the development of malignant tumors in kidney transplant recipients. " 02/01/2018 - "Therapy-associated myelodysplastic syndrome with monosomy 7 arising in a Muir-Torre Syndrome patient carrying SETBP1 mutation." 03/01/1985 - "Oral isotretinoin therapy for familial Muir-Torre syndrome." 01/01/2023 - "A significant reduction in tumor volume in response to the combination of immune checkpoint inhibition and androgen deprivation therapy is described in this report of a male with Muir-Torre syndrome who was found to have locally advanced adenocarcinoma of the prostate. " 01/01/2023 - "First-line pembrolizumab plus androgen deprivation therapy for locally advanced microsatellite instability-high prostate cancer in a patient with Muir-Torre syndrome: A case report."
2.	Immunotherapy 10/26/2023 - "A locally advanced colon cancer patient with Muir-Torre syndrome obtains durable response to neoadjuvant and adjuvant immunotherapy." 01/01/2020 - "We report the case of a man with Muir-Torre syndrome who had 136 cutaneous or visceral hyperplastic or neoplastic lesions over a period of 19 years (mean 7.5 neoplasms/year, range 2-26) prior to receiving pembrolizumab immunotherapy as part of multi-modality treatment for invasive bladder cancer. "
3.	Chemoprevention 01/01/2022 - "Isotretinoin as chemoprophylaxis for cutaneous malignancies in Muir-Torre syndrome: A novel concept."
4.	Heart Transplantation (Grafting, Heart) 02/01/2017 - "Muir-Torre syndrome: multiple sebaceous neoplasms and visceral malignancy manifesting after cardiac transplantation and iatrogenic immunosuppression."
5.	Radiotherapy 12/01/2015 - "It has been associated with Muir-Torre syndrome, human papillomavirus infection, and radiotherapy. "