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[PMID]:28323777
[Au] Autor:Mahalingam M
[Ad] Endereço:Dermatopathology Section Chief, Dermatopathology Section, Department of Pathology and Laboratory Medicine (113), VA Consolidated Laboratories, West Roxbury, MA.
[Ti] Título:MSH6, Past and Present and Muir-Torre Syndrome-Connecting the Dots.
[So] Source:Am J Dermatopathol;39(4):239-249, 2017 Apr.
[Is] ISSN:1533-0311
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Sebaceous neoplasms such as adenoma, sebaceoma, and carcinoma, although sporadic in their occurrence, are clinically significant because of their association with Muir-Torre syndrome (MTS). MTS is a rare autosomal dominant genodermatosis characterized by the occurrence of sebaceous neoplasms and/or keratoacanthomas and visceral malignancies. MTS is usually the result of germline mutations in the DNA mismatch repair genes MSH2 and, albeit less commonly, MLH1. Although less know, MSH6 is yet another key player. Evidence from Lynch syndrome indicates that pathogenic germline mutations in MSH6 are typically microsatellite stable and have a clinical presentation that differs from that associated with germline mutations in MSH2 and/or MLH1. Given this unique mutator phenotype of MSH6, the primary aim of this review was to underscore the clinical manifestations associated with pathogenic mutations in MSH6 in patients with MTS. As the current clinical and laboratory work-up of MTS is geared toward patients harboring a germline mutation in MSH2 and/or MLH1, an additional aim was to provide a scaffolding for the work-up of a patient presenting with an isolated germline mutation in MSH6.
[Mh] Termos MeSH primário: Proteínas de Ligação a DNA/genética
Síndrome de Muir-Torre/diagnóstico
Síndrome de Muir-Torre/genética
[Mh] Termos MeSH secundário: Mutação em Linhagem Germinativa
Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (DNA-Binding Proteins); 0 (G-T mismatch-binding protein)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170420
[Lr] Data última revisão:
170420
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170322
[St] Status:MEDLINE
[do] DOI:10.1097/DAD.0000000000000633


  2 / 130 MEDLINE  
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[PMID]:28120777
[Au] Autor:Shiki M; Hida T; Sugano K; Kaneko R; Kamiya T; Sakurai A; Yamashita T
[Ad] Endereço:Department of Dermatology, Sapporo Medical University School of Medicine, Sapporo, Japan.
[Ti] Título:Muir-Torre syndrome caused by exonic deletion of MLH1 due to homologous recombination.
[So] Source:Eur J Dermatol;27(1):54-58, 2017 Feb 01.
[Is] ISSN:1952-4013
[Cp] País de publicação:France
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Muir-Torre syndrome (MTS) is characterized by sebaceous neoplasms with internal malignancies and regarded as a variant of hereditary nonpolyposis colorectal cancer (HNPCC). Pathogenic variations of MTS have been identified in the MSH2, MLH1, and MSH6 genes, with the majority of variations located in MSH2. OBJECTIVES: To present an MTS patient who was the only individual with skin malignancies within a cancer-prone pedigree and to show the usefulness of RNA-based genetic analysis in the investigation of MTS. MATERIALS & METHODS: A 77-year-old man who had operated X-ray equipment at his workplace in his twenties was clinically diagnosed with MTS and investigated by RNA-based analysis, multiplex ligation-dependent probe amplification, and genomic DNA sequencing. RESULTS: The patient had suffered from sebaceous tumours, squamous cell carcinomas of the skin, and colon cancer. The patient's family history was remarkable for visceral malignant diseases. Genetic analysis revealed homologous recombination between two Alu elements within intron 4 and 5 of the MLH1 gene. The rearrangement caused a 1,222-bp deletion, including the entire exon 5. Deletion of exon 5 has previously been reported only in two patients with HNPCC, and not in patients with MTS. CONCLUSION: For the genetic analysis of MTS, the possibility of rare copy number variations of MLH1, as well as MSH2 variations, should be considered. RNA-based screening using puromycin is recommended in order to identify such variations. It remains unclear why only the proband among the pedigree had skin malignancies, however, the skin carcinogenesis might have been related to occupational radiation exposure.
[Mh] Termos MeSH primário: Sequência de Bases
Síndrome de Muir-Torre/genética
Proteína 1 Homóloga a MutL/genética
Deleção de Sequência
[Mh] Termos MeSH secundário: Idoso
Elementos Alu
Éxons
Recombinação Homóloga
Seres Humanos
Íntrons
Masculino
Linhagem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (MLH1 protein, human); EC 3.6.1.3 (MutL Protein Homolog 1)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171016
[Lr] Data última revisão:
171016
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170126
[St] Status:MEDLINE
[do] DOI:10.1684/ejd.2016.2916


  3 / 130 MEDLINE  
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[PMID]:27868185
[Au] Autor:Shaw KC; Altmayer SA; Driscoll MS
[Ad] Endereço:Department of Dermatology, University of Maryland School of Medicine, Baltimore, MD, USA.
[Ti] Título:Muir-Torre syndrome: multiple sebaceous neoplasms and visceral malignancy manifesting after cardiac transplantation and iatrogenic immunosuppression.
[So] Source:Int J Dermatol;56(2):e26-e27, 2017 Feb.
[Is] ISSN:1365-4632
[Cp] País de publicação:England
[La] Idioma:eng
[Mh] Termos MeSH primário: Adenocarcinoma/diagnóstico
Transplante de Coração
Imunossupressão
Neoplasias Pulmonares/diagnóstico
Síndrome de Muir-Torre/diagnóstico
Segunda Neoplasia Primária/diagnóstico
[Mh] Termos MeSH secundário: Idoso
Proteínas de Ligação a DNA/genética
Seres Humanos
Masculino
Síndrome de Muir-Torre/genética
Síndrome de Muir-Torre/patologia
Mieloma Múltiplo/diagnóstico
[Pt] Tipo de publicação:CASE REPORTS; LETTER
[Nm] Nome de substância:
0 (DNA-Binding Proteins); 0 (G-T mismatch-binding protein)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170804
[Lr] Data última revisão:
170804
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161122
[St] Status:MEDLINE
[do] DOI:10.1111/ijd.12962


  4 / 130 MEDLINE  
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[PMID]:26894645
[Au] Autor:Fernandez-Flores A; Rodríguez Peralto JL
[Ad] Endereço:Hospital El Bierzo, Fuentesnuevas, Leon, Spain.
[Ti] Título:Mismatch Repair Protein Expression in Fordyce Granules.
[So] Source:Appl Immunohistochem Mol Morphol;25(3):209-212, 2017 Mar.
[Is] ISSN:1533-4058
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Fordyce spots are a frequent condition under which sebaceous glands are found in the oral mucosa. There are 2 studies in the literature that have found an association between Fordyce spots and either Muir-Torre syndrome or Lynch syndrome. Despite this, no study on the expression of mismatch repair (MMR) proteins has been performed on biopsies of Fordyce granules. In this study, we intend to study the expression of MMR proteins under Fordyce condition. We investigated 9 cases of Fordyce spots of the oral mucosa from 6 men and 3 women, using immunohistochemistry with antibodies for the MutS protein homolog 6 (MSH6), MutS protein homolog 2 (MSH2), MutL protein homolog 1 (MLH1), and postmeiotic segregation increased 2 (PMS2). All cases showed the preservation of the expression of all markers. Even though a strong association has been demonstrated between Lynch syndrome and Fordyce spots, our study suggests that studying the biopsies of Fordyce condition by immunohistochemistry for MMR proteins might not be necessary.
[Mh] Termos MeSH primário: Reparo de Erro de Pareamento de DNA
Mucosa Bucal/patologia
[Mh] Termos MeSH secundário: Adulto
Neoplasias Colorretais Hereditárias sem Polipose/patologia
Feminino
Seres Humanos
Masculino
Meia-Idade
Síndrome de Muir-Torre/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170802
[Lr] Data última revisão:
170802
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160220
[St] Status:MEDLINE
[do] DOI:10.1097/PAI.0000000000000339


  5 / 130 MEDLINE  
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[PMID]:27870730
[Au] Autor:Kacerovska D; Drlik L; Slezakova L; Michal M; Stehlik J; Sedivcova M; Hadravsky L; Kazakov DV
[Ad] Endereço:*Sikl's Department of Pathology, Medical Faculty in Pilsen, Charles University in Prague, Prague, Czech Republic; †Bioptical Laboratory, Pilsen, Czech Republic; and ‡Department of Dermatology, Regional Hospital, Sumperk, Czech Republic.
[Ti] Título:Cutaneous Sebaceous Lesions in a Patient With MUTYH-Associated Polyposis Mimicking Muir-Torre Syndrome.
[So] Source:Am J Dermatopathol;38(12):915-923, 2016 Dec.
[Is] ISSN:1533-0311
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:A 76-year-old white male with a history of adenocarcinoma of the rectosigmoideum and multiple colonic polyps removed at the age of 38 and 39 years by an abdominoperitoneal amputation and total colectomy, respectively, presented with multiple whitish and yellowish papules on the face and a verrucous lesion on the trunk. The lesions were surgically removed during the next 3 years and a total of 13 lesions were investigated histologically. The diagnoses included 11 sebaceous adenomas, 1 low-grade sebaceous carcinoma, and 1 squamous cell carcinoma. In some sebaceous lesions, squamous metaplasia, intratumoral heterogeneity, mucinous changes, and peritumoral lymphocytes as sometimes seen in sebaceous lesions in Muir-Torre syndrome were noted. Mutation analysis of the peripheral blood revealed a germline mutation c.692G>A,p.(Arg231His) in exon 9 and c.1145G>A, p.(Gly382Asp) in exon 13 of the MUTYH gene. A KRAS mutation G12C (c.34G>T, p.Gly12Cys) was detected in 1 sebaceous adenoma and a NRAS mutation Q61K (c.181C>A, p.Gln61Lys) was found in 2 other sebaceous adenomas. No germline mutations in MLH1, MSH2, MSH6 and PMS2 genes, no microsatellite instability, no aberrant methylation of MLH1 promoter, and no somatic mutations in MSH2 and MSH6 were found. An identical MUTYH germline mutation was found in the patient's daughter. Despite striking clinicopathological similarities with Muir-Torre syndrome, the molecular biologic testing confirmed the final diagnosis of MUTYH-associated polyposis.
[Mh] Termos MeSH primário: Biomarcadores Tumorais/genética
Neoplasias Colorretais Hereditárias sem Polipose/genética
DNA Glicosilases/genética
Síndrome de Muir-Torre/genética
Mutação
Neoplasias das Glândulas Sebáceas/genética
[Mh] Termos MeSH secundário: Idoso
Biópsia
Neoplasias Colorretais Hereditárias sem Polipose/enzimologia
Neoplasias Colorretais Hereditárias sem Polipose/patologia
Análise Mutacional de DNA
Diagnóstico Diferencial
Éxons
Predisposição Genética para Doença
Hereditariedade
Seres Humanos
Masculino
Síndrome de Muir-Torre/patologia
Linhagem
Fenótipo
Neoplasias das Glândulas Sebáceas/enzimologia
Neoplasias das Glândulas Sebáceas/patologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers, Tumor); EC 3.2.2.- (DNA Glycosylases); EC 3.2.2.- (mutY adenine glycosylase)
[Em] Mês de entrada:1701
[Cu] Atualização por classe:170126
[Lr] Data última revisão:
170126
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161122
[St] Status:MEDLINE


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[PMID]:27836252
[Au] Autor:Bourlond F; Velter C; Cribier B
[Ad] Endereço:Clinique dermatologique, faculté de médecine, université de Strasbourg, hôpitaux universitaires de Strasbourg, hôpital civil, 1, place de l'Hôpital, BP 426, 67091 Strasbourg cedex, France.
[Ti] Título:Clinicopathological study of 47 cases of sebaceoma.
[So] Source:Ann Dermatol Venereol;143(12):814-824, 2016 Dec.
[Is] ISSN:0151-9638
[Cp] País de publicação:France
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Sebaceoma is a rare and poorly understood form of sebaceous tumour, and it is of great significance since it may reveal Muir-Torre syndrome (MTS). Herein, we present a series of cases with details of the histopathological appearance. PATIENTS AND METHODS: We examined records of cases labelled as sebaceous tumour recorded at the Strasbourg Dermatopathology Laboratory between 1991 and 2015. We include cases of benign sebaceous tumour predominantly involving immature basophilic cells. The clinical and histological data were collected as well as screening for a history of MTS. RESULTS: We studied 47 cases of sebaceomas (26 men), in patients of mean age 67.6years, located primarily in the head or neck (32 cases). Of the 17 patients followed up, 6 had MTS. Different types of architecture were seen: dermal nodule (9 cases) or cystic nodule (9 cases), multiple dermal nodules (22 cases), exophytic tumour (4 cases) and an appearance intermediate with sebaceous adenoma (3 cases). The cells involved were basophilic, with the presence of round ducts exhibiting an eosinophilic cuticle and, in rare cases, mature sebocytes. Mitoses were observed: mean 6.6/10 fields (0 to 19). In all cases, there was expression of CK17, EMA and androgen receptors, but not of BerEP4. DISCUSSION: Sebaceoma is a small benign tumour but identification is imperative due to association with MTS. A knowledge of the associated cytological and architectural elements - particularly cysts and labyrinthine patterns - and immunolabelling enable differential diagnosis with respect to other tumours. The extra-facial and cystic forms in particular require screening for MTS. If there is any doubt, immunolabelling of androgen receptors provides a precious tool.
[Mh] Termos MeSH primário: Adenoma/patologia
Neoplasias das Glândulas Sebáceas/patologia
[Mh] Termos MeSH secundário: Adulto
Idoso
Idoso de 80 Anos ou mais
Diagnóstico Diferencial
Feminino
Seres Humanos
Masculino
Instabilidade de Microssatélites
Meia-Idade
Síndrome de Muir-Torre/complicações
Síndrome de Muir-Torre/diagnóstico
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170614
[Lr] Data última revisão:
170614
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161113
[St] Status:MEDLINE


  7 / 130 MEDLINE  
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[PMID]:27769341
[Au] Autor:Sia PI; Rajak S; James C; Huilgol S; Selva D
[Ad] Endereço:Royal Adelaide Hospital, Adelaide, Australia; University of Adelaide, Adelaide, Australia. Electronic address: paul.sia@me.com.
[Ti] Título:Sebaceous adenomas in the absence of Muir-Torre syndrome.
[So] Source:Can J Ophthalmol;51(5):e152-e153, 2016 Oct.
[Is] ISSN:1715-3360
[Cp] País de publicação:England
[La] Idioma:eng
[Mh] Termos MeSH primário: Adenoma/diagnóstico
Neoplasias Palpebrais/diagnóstico
Síndrome de Muir-Torre/patologia
Neoplasias das Glândulas Sebáceas/diagnóstico
[Mh] Termos MeSH secundário: Adenoma/cirurgia
Biópsia
Reparo de Erro de Pareamento de DNA
Neoplasias Palpebrais/cirurgia
Seres Humanos
Masculino
Meia-Idade
Neoplasias das Glândulas Sebáceas/cirurgia
[Pt] Tipo de publicação:CASE REPORTS; LETTER
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170915
[Lr] Data última revisão:
170915
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161023
[St] Status:MEDLINE


  8 / 130 MEDLINE  
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[PMID]:27745640
[Au] Autor:Kim RH; Nagler AR; Meehan SA
[Ad] Endereço:Ronald O. Perelman Department of Dermatology, New York University School of Medicine, New York, New York.
[Ti] Título:Universal immunohistochemical screening of sebaceous neoplasms for Muir-Torre syndrome: Putting the cart before the horse?
[So] Source:J Am Acad Dermatol;75(5):1078-1079, 2016 Nov.
[Is] ISSN:1097-6787
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Adenocarcinoma Sebáceo/diagnóstico
Reparo de Erro de Pareamento de DNA/genética
Enzimas Reparadoras do DNA/análise
Detecção Precoce de Câncer
Imuno-Histoquímica
Instabilidade de Microssatélites
Síndrome de Muir-Torre/diagnóstico
Neoplasias das Glândulas Sebáceas/diagnóstico
[Mh] Termos MeSH secundário: Adenocarcinoma Sebáceo/química
Adenocarcinoma Sebáceo/genética
Neoplasias Colorretais/genética
Testes Diagnósticos de Rotina
Detecção Precoce de Câncer/ética
Detecção Precoce de Câncer/métodos
Seres Humanos
Síndrome de Muir-Torre/enzimologia
Síndrome de Muir-Torre/genética
Guias de Prática Clínica como Assunto
Neoplasias das Glândulas Sebáceas/química
Neoplasias das Glândulas Sebáceas/genética
Sensibilidade e Especificidade
[Pt] Tipo de publicação:EDITORIAL
[Nm] Nome de substância:
EC 6.5.1.- (DNA Repair Enzymes)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161018
[St] Status:MEDLINE


  9 / 130 MEDLINE  
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[PMID]:27178686
[Au] Autor:Schadt CR
[Ad] Endereço:University of Louisville Division of Dermatology, Louisville, KY. Electronic address: courtney.schadt@louisville.edu.
[Ti] Título:The cutaneous manifestations of gastrointestinal malignancy.
[So] Source:Semin Oncol;43(3):341-6, 2016 Jun.
[Is] ISSN:1532-8708
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The skin is often the herald of an underlying systemic illness, and gastrointestinal malignancies can present in numerous ways in the skin. Paraneoplastic phenomenon, such as acanthosis nigricans and tripe palm, may be the first indicator of a gastrointestinal malignancy. In addition, gastrointestinal cancers can metastasize to the skin, as described in the well-known Sister Mary Joseph's nodule. Inflammatory systemic conditions such as dermatomyositis and multicentric reticulohistiocytosis can be associated with underlying malignancy. Finally, in numerous genetic syndromes with underlying malignancies, such as Muir-Torre, recognition of the skin signs leads to early diagnosis and screening.
[Mh] Termos MeSH primário: Neoplasias Gastrointestinais/patologia
Síndromes Paraneoplásicas/etiologia
Neoplasias Cutâneas/patologia
[Mh] Termos MeSH secundário: Carcinoma Basocelular/etiologia
Carcinoma Basocelular/patologia
Dermatomiosite/etiologia
Dermatomiosite/patologia
Neoplasias Esofágicas/etiologia
Neoplasias Esofágicas/patologia
Síndrome de Gardner/etiologia
Síndrome de Gardner/patologia
Seres Humanos
Hipertricose/etiologia
Hipotricose/etiologia
Hipotricose/patologia
Ceratodermia Palmar e Plantar/etiologia
Ceratodermia Palmar e Plantar/patologia
Síndrome de Muir-Torre/etiologia
Síndrome de Muir-Torre/patologia
Síndromes Paraneoplásicas/patologia
Neoplasias Cutâneas/etiologia
Neoplasias Cutâneas/secundário
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170515
[Lr] Data última revisão:
170515
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160515
[St] Status:MEDLINE


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[PMID]:27131946
[Au] Autor:Castro-Mujica Mdel C; Barletta-Carrillo C; Acosta-Aliaga M; Montenegro-Garreaud X
[Ad] Endereço:Instituto Nacional de Enfermedades Neoplásicas. Lima, Perú.
[Ti] Título:[Lynch syndrome, Muir Torre variant: 2 cases].
[Ti] Título:Síndrome de Lynch variante Muir-Torre: a propósito de 2 casos..
[So] Source:Rev Gastroenterol Peru;36(1):81-5, 2016 Jan-Mar.
[Is] ISSN:1609-722X
[Cp] País de publicação:Peru
[La] Idioma:spa
[Ab] Resumo:Lynch syndrome (LS) is an autosomal-dominant inherited cancer predisposition syndrome caused by germline mutations in DNA mismatch repair genes (MLH1, MSH2, MSH6 or PMS2). Muir-Torre syndrome (MTS) is a phenotypic variant of LS that includes a predisposition to sebaceous glands tumors and keratoacanthomas. We report two patients with MTS, with more than one LS-related cancer, skin lesions, family history of cancer andmicrosatellite instability and immunohistochemistry analysis.
[Mh] Termos MeSH primário: Síndrome de Muir-Torre/diagnóstico
[Mh] Termos MeSH secundário: Feminino
Seres Humanos
Instabilidade de Microssatélites
Meia-Idade
Síndrome de Muir-Torre/genética
Linhagem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170503
[Lr] Data última revisão:
170503
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160502
[St] Status:MEDLINE



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