Results 31 to 40 of about 3,333 (172)

Muir-Torre Syndrome: case report and molecular characterization [PDF]

São Paulo Medical Journal, 2014
CONTEXT: Muir-Torre syndrome is a rare autosomal dominant genodermatosis caused by mutations in the mismatch repair genes. It is characterized by the presence of sebaceous skin tumors and internal malignancies, affecting mainly the colon, rectum and ...
Carolina Alejandra Rios, Ricardo Villalon, Jorge Munoz, Monica Acuna, Lucia Cifuentes   +4 more
doaj   +3 more sources

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, Eisuke Kobayashi, Masayoshi Yamada, Tomoko Watanabe, Makoto Hirata, Noriko Tanabe, Mineko Ushiama, Hiromi Sakamoto, Chiaki Sato, Taisuke Mori, Akihiko Yoshida, Teruhiko Yoshida, Kokichi Sugano, Akira Kawai   +13 more
doaj   +2 more sources

Sebaceomas in a Muir–Torre-like Phenotype in a Patient with MUTYH-Associated Polyposis

Dermatopathology
This case report describes a case of a patient with MUTYH-associated polyposis (MAP), who presented with multiple sebaceomas in a Muir–Torre-like phenotype.
Julia Guarrera, James C. Prezzano, Kathleen A. Mannava   +2 more
doaj   +2 more sources

Glioblastoma multiforme in the Muir–Torre syndrome [PDF]

Clinical Neurology and Neurosurgery, 2011
Muir-Torre syndrome (MTS) is an autosomal dominant subtype of nonpolyposis colorectal carcinoma (HNPCC) characterized by the development of sebaceous gland tumors and visceral malignancies. The most common subtype of MTS is characterized by germline mutations in mismatch repair (MMR) genes leading to microsatellite instability (MSI).
Zev A, Binder, Michael W, Johnson, Avadhut, Joshi, Christine L, Hann, Constance A, Griffin, Alessandro, Olivi, Gregory J, Riggins, Gary L, Gallia   +7 more
openaire   +3 more sources

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, David Ullman, Jeffrey Adam Jones, Danielle Fasciano, Daniel S. Atherton, Peter Pavlidakey, Deniz Peker   +6 more
doaj   +2 more sources

Deep intronic MSH2 variant confirms Muir-Torre subtype of Lynch syndrome

JID Innovations
Whole-genome sequencing can uncover clinically significant noncoding variants missed by standard germline testing, as demonstrated in this report in a patient with Muir–Torre syndrome, a subtype of Lynch syndrome.
Fiona Chan-Pak-Choon, Andrew Y. Shuen, Evan Weber, Lili Fu, Barbara Rivera, William D. Foulkes   +5 more
doaj   +3 more sources

Extraocular sebaceous carcinoma in muir-torre syndrome

Indian Journal of Dermatology, 2022
Abbas Albayati, Burak Ozkan, Ebru Sebnem Ayva, Ahmet Cagri Uysal, Nilgun Markal Ertas   +4 more
doaj   +2 more sources

Muir–Torre syndrome in a haemodialysis patient [PDF]

Clinical Kidney Journal, 2013
Muir-Torre syndrome (MTS) is a rare inherited cancer syndrome with variable penetrance. MTS follows an autosomal-dominant pattern of inheritance, and is a subtype of Lynch syndrome [formally known as hereditary non-polyposis colorectal cancer (HNPCC)]. MTS is caused by mutations in one of several mismatch repair genes.
Godfrey, Evonne D., Coward, Robert A., Gharpuray-Pandit, Deepa, Lalloo, Fiona, McKirdy, Stuart, Woywodt, Alexander   +5 more
openaire   +3 more sources

Sebaceous gland tumors and internal malignancy in the context of Muir-Torre syndrome. A case report and review of the literature

World Journal of Surgical Oncology, 2006
Background The Muir-Torre syndrome is a rare autosomal dominant condition and is currently considered a subtype of the more common hereditary nonpolyposis colorectal cancer syndrome, in which multiple primary malignancies occur together with sebaceous ...
Tsachalis T, Vasiliadis K, Blouhos K, Tsalis K, Angelopoulos S, Betsis D   +5 more
doaj   +2 more sources

Muir Torre syndrome and in vitro fertilization: One family's experience [PDF]

JAAD Case Reports, 2020
Surget Cox, MD, Janellen Smith, MD
doaj   +2 more sources