Muir-Torre Syndrome: case report and molecular characterization
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 urogenital tract. Awareness of this syndrome amon...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Associação Paulista de Medicina
|
| Series: | São Paulo Medical Journal |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802014000100061&lng=en&tlng=en |
| _version_ | 1818304323514269696 |
|---|---|
| author | Carolina Alejandra Rios Ricardo Villalon Jorge Munoz Monica Acuna Lucia Cifuentes |
| author_facet | Carolina Alejandra Rios Ricardo Villalon Jorge Munoz Monica Acuna Lucia Cifuentes |
| author_sort | Carolina Alejandra Rios |
| collection | DOAJ |
| description | 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 urogenital tract. Awareness of this syndrome among physicians can lead to early diagnosis of these malignancies and a better prognosis. CASE REPORT: We report the case of a Chilean patient who, over the course of several years, had multiple skin lesions, endometrial cancer and colon cancer. The syndrome was diagnosed using molecular techniques such as microsatellite instability analysis, immunohistochemistry and DNA sequencing, which allowed us to find the causative mutation. CONCLUSION: Molecular diagnostics is a highly useful tool, since it allows clinicians to confirm the presence of mutations causing Muir-Torre syndrome. It is complementary to the analysis of the clinical data, such as dermatological presentation, presence of visceral malignancies and family history of colorectal tumors, and it provides important knowledge to help physicians and patients choose between treatment options. |
| first_indexed | 2024-12-13T06:08:52Z |
| format | Article |
| id | doaj.art-e29488545c2d47f7bc86974fcddfb9d2 |
| institution | Directory Open Access Journal |
| issn | 1806-9460 |
| language | English |
| last_indexed | 2024-12-13T06:08:52Z |
| publisher | Associação Paulista de Medicina |
| record_format | Article |
| series | São Paulo Medical Journal |
| spelling | doaj.art-e29488545c2d47f7bc86974fcddfb9d22022-12-21T23:57:10ZengAssociação Paulista de MedicinaSão Paulo Medical Journal1806-94601321616410.1590/1516-3180.2014.1321634S1516-31802014000100061Muir-Torre Syndrome: case report and molecular characterizationCarolina Alejandra RiosRicardo VillalonJorge MunozMonica AcunaLucia CifuentesCONTEXT: 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 urogenital tract. Awareness of this syndrome among physicians can lead to early diagnosis of these malignancies and a better prognosis. CASE REPORT: We report the case of a Chilean patient who, over the course of several years, had multiple skin lesions, endometrial cancer and colon cancer. The syndrome was diagnosed using molecular techniques such as microsatellite instability analysis, immunohistochemistry and DNA sequencing, which allowed us to find the causative mutation. CONCLUSION: Molecular diagnostics is a highly useful tool, since it allows clinicians to confirm the presence of mutations causing Muir-Torre syndrome. It is complementary to the analysis of the clinical data, such as dermatological presentation, presence of visceral malignancies and family history of colorectal tumors, and it provides important knowledge to help physicians and patients choose between treatment options.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802014000100061&lng=en&tlng=enMuir-Torre syndromeColorectal neoplasms, hereditary nonpolyposisPathology, molecularMicrosatellite instabilityMutation |
| spellingShingle | Carolina Alejandra Rios Ricardo Villalon Jorge Munoz Monica Acuna Lucia Cifuentes Muir-Torre Syndrome: case report and molecular characterization São Paulo Medical Journal Muir-Torre syndrome Colorectal neoplasms, hereditary nonpolyposis Pathology, molecular Microsatellite instability Mutation |
| title | Muir-Torre Syndrome: case report and molecular characterization |
| title_full | Muir-Torre Syndrome: case report and molecular characterization |
| title_fullStr | Muir-Torre Syndrome: case report and molecular characterization |
| title_full_unstemmed | Muir-Torre Syndrome: case report and molecular characterization |
| title_short | Muir-Torre Syndrome: case report and molecular characterization |
| title_sort | muir torre syndrome case report and molecular characterization |
| topic | Muir-Torre syndrome Colorectal neoplasms, hereditary nonpolyposis Pathology, molecular Microsatellite instability Mutation |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802014000100061&lng=en&tlng=en |
| work_keys_str_mv | AT carolinaalejandrarios muirtorresyndromecasereportandmolecularcharacterization AT ricardovillalon muirtorresyndromecasereportandmolecularcharacterization AT jorgemunoz muirtorresyndromecasereportandmolecularcharacterization AT monicaacuna muirtorresyndromecasereportandmolecularcharacterization AT luciacifuentes muirtorresyndromecasereportandmolecularcharacterization |