title: The role of immunohistochemistry in the Muir-Torre Syndrome.
abstract: 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 replication process. This case describes a patient with sebaceous adenoma and colorectal carcinoma, meeting the criteria for Muir-Torre Syndrome. The immunohistochemical analysis of the skin lesion was an important tool to confirm the diagnosis, as it revealed nuclear negativity for MSH2 and MSH6.
authors: Universidade Federal do Amazonas, Manaus, AM, BR.
authors: Cláudia Marina Puga Barbosa
authors: CM
authors: Oliveira
authors: Universidade Federal do Amazonas, Manaus, AM, BR.
authors: Jullyene Gomes de
authors: JG
authors: Campos
authors: Universidade Federal do Amazonas, Manaus, AM, BR.
authors: Maiko Ramacos
authors: MR
authors: Maia
authors: Universidade Federal do Amazonas, Manaus, AM, BR.
authors: Larissa Eva dos Santos
authors: LE
authors: Lobo
authors: Universidade Federal do Amazonas, Manaus, AM, BR.
authors: Fábio Francesconi do
authors: FF
authors: Valle
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D000328:Adult; D002277:Carcinoma / Q000175:diagnosis* / Q000235:genetics; D015179:Colorectal Neoplasms / Q000175:diagnosis* / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D018095:Germ-Line Mutation; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods*; D008297:Male; D055653:Muir-Torre Syndrome / Q000175:diagnosis* / Q000235:genetics; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D004268:DNA-Binding Proteins; C094443:G-T mismatch-binding protein; C501486:MLH1 protein, human; D009687:Nuclear Proteins; C497172:MSH2 protein, human; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein