Papillary Renal Cell Carcinoma in Lynch/Muir-Torre Syndrome with Germline Pathogenic Variant in MSH6 and Molecular Analysis [PDF]
Journal of Kidney Cancer and VHL, 2021 Lynch syndrome (LS) is an autosomal dominant inherited disorder due to pathogenic variations in the mismatch repair genes, which predisposes to malignancies, most commonly colon and endometrial carcinoma.
Yu Yang +3 more
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A case report of Muir–Torre syndrome (MTS) in a Chinese patient [PDF]
BMC OphthalmologyBackground Muir-Torre syndrome is a rare disorder characterized by patients suffering from sebaceous gland tumors or keratoacanthoma and visceral malignancies. More cases have been reported in Europe than in Asia.
Jing Wang +3 more
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Muir-Torre Syndrome: The Importance of a Detailed Family History [PDF]
Case Reports in Ophthalmology, 2019 Muir-Torre syndrome, a variant of Lynch syndrome or hereditary nonpolyposis colorectal cancer, is an autosomal dominant disease characterized by skin neoplasms (sebaceous or keratoacanthomas) and visceral malignancies.
Christopher K.H. Burris +7 more
doaj +2 more sources
A Case of Muir-Torre Syndrome. [PDF]
Cureus, 2021 Muir-Torre syndrome (MTS) is an autosomal dominant condition characterized by dermatological tumors along with visceral malignancies. The dermatological manifestations include recurrent sebaceous adenomas and keratoacanthomas. The commonly seen visceral malignancies are colorectal, gynecological, and urological.
Sheth R, Menon P, Malik D.
europepmc +4 more sources
The role of immunohistochemistry in the Muir-Torre Syndrome [PDF]
Anais Brasileiros de Dermatologia, 2015 Muir-Torre Syndrome is defined by the coexistence of sebaceous skin tumors and internal malignancies. Mutations in the DNA mismatch repair genes are found in the inherited form of the disease, resulting in the absence of crucial enzymes involved with DNA
Cláudia Marina Puga Barbosa Oliveira +4 more
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A case report of Muir-Torre syndrome in a woman with breast cancer and MSI-Low skin squamous cell carcinoma [PDF]
Hereditary Cancer in Clinical Practice, 2017 Background The tumor spectrum in the Lynch syndrome is well defined, comprising an increased risk of developing colonic and extracolonic malignancies. Muir-Torre syndrome is a variant with a higher risk of skin disease.
Caroline Kientz +9 more
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Myxofibrosarcoma harboring an MLH1 pathogenic germline variant associated with Muir-Torre syndrome: a case report [PDF]
Hereditary Cancer in Clinical Practice, 2021 Background Muir–Torre syndrome (MTS), which accounts for a small subset (1–3 %) of Lynch syndrome (LS), is an autosomal dominant genetic disorder characterized by sebaceous gland or keratoacanthoma associated with visceral malignancies.
Makoto Nakagawa +13 more
doaj +2 more sources
Maintenance Intravenous Immunoglobulin Treatment for Multiple Sclerosis Coexisting with Ehlers-Danlos Syndrome and Muir-Torre Syndrome: A Case Study [PDF]
Neurology and Therapy, 2020 The therapeutic options for disease modification in relapsing-remitting multiple sclerosis (RRMS) have expanded remarkably in the last 15 years. Although intravenous immunoglobulins (IVIg) have shown some therapeutic effects in multiple sclerosis ...
Srishti Gupta +2 more
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Generational Expression of Muir-Torre Syndrome in a Canadian Family [PDF]
Case Reports in Dermatological Medicine, 2016 Muir-Torre syndrome (MTS) is a rare autosomal dominant inherited genodermatosis that is considered to be a phenotypic subtype of hereditary nonpolyposis colorectal cancer (HNPCC), commonly referred to as Lynch syndrome. We describe the clinical course of
Kaitlin Alexandra Vanderbeck +2 more
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Postradiation Histiocytic Sarcoma in the Setting of Muir-Torre Syndrome [PDF]
Case Reports in Pathology, 2018 Hereditary nonpolyposis colorectal carcinoma (HNPCC) is an autosomal dominant genetic disorder characterized by a predisposition towards colorectal carcinoma and other extracolonic neoplasms.
Erin Baumgartner +6 more
doaj +2 more sources