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Humanos , Masculino , Pessoa de Meia-Idade , Carcinoma de Células Escamosas/diagnóstico , Cicatriz/complicações , Neoplasias de Tecido Conjuntivo e de Tecidos Moles/complicações , Úlcera Cutânea/etiologia , Carcinoma de Células Escamosas/patologia , Carcinoma de Células Escamosas/terapia , Úlcera Cutânea/patologia , Amputação CirúrgicaRESUMO
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Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias da Língua/diagnóstico , Neoplasias da Língua/cirurgia , Miofibroma/diagnóstico por imagem , Miofibroma/cirurgia , Neoplasias de Tecido Conjuntivo e de Tecidos Moles/diagnóstico , Neoplasias de Tecido Conjuntivo e de Tecidos Moles/cirurgia , Língua/diagnóstico por imagem , Língua/patologia , Pericitos/patologiaRESUMO
INTRODUCTION: Gastrointestinal stromal tumors (GISTs) are mesenchymal neoplasms usually caused by somatic mutations in the genes KIT (c-kit) or PDGFRA. Mutation characterization has become an important exam for GIST patients because it is useful in predicting the response to the inhibitors of receptor tyrosine kinase (RTK). OBJECTIVES: The aim of this study was to determine the frequency of KIT and PDGFRA mutations in 25 GIST samples collected over two years at two national reference hospitals in Peru. There were 21 samples collected from the Instituto Nacional de Enfermedades Neoplásicas (INEN, national cancer center) and 4 samples collected from Hospital A. Loayza. METHODS AND MATERIALS: In this retrospective study, we performed polymerase chain reaction (PCR) amplification and deoxyribonucleic acid (DNA) sequencing of KIT (exons 9, 11, 13, and 17) and PDGFRA (exons 12 and 18) genes in 20 FFPE (formalin-fixed, paraffin-embedded) and 5 frozen GIST samples. RESULTS: We report 21 mutations, including deletions, duplications, and missense, no mutations in 2 samples, and 2 samples with no useful DNA for further analysis. Eighty-six percent of these mutations were located in exon 11 of KIT, and 14 % were located in exon 18 of PDGFRA. CONCLUSIONS: Our study identified mutations in 21 out of 25 GIST samples from 2 referential national hospitals in Peru, and the mutation proportion follows a global tendency observed from previous studies (i.e., the majority of samples presented KIT mutations followed by a minor percentage of PDGFRA mutations). This study presents the first mutation data of the KIT and PDGFRA genes from Peruvian individuals with GIST
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Humanos , Masculino , Feminino , Tumores do Estroma Gastrointestinal/diagnóstico , Tumores do Estroma Gastrointestinal/genética , Mutação/genética , Proteínas Proto-Oncogênicas c-kit , Proteínas Proto-Oncogênicas c-kit/genética , Neoplasias de Tecido Conjuntivo e de Tecidos Moles/genética , Estudos Retrospectivos , Imuno-Histoquímica/métodos , Imuno-Histoquímica , Reação em Cadeia da Polimerase/métodos , Manejo de Espécimes/métodos , Células ClonaisRESUMO
El elastofibroma dorsi es un tumor poco frecuente de los tejidos blandos localizados a nivel infraescapulary/o subescapular. Su incidencia es variable, produciéndose entre la cuarta y la séptima década de la vida,y es más común en las mujeres. Se han revisado 16 casos de elastofibroma diagnosticados en 12 pacientes(7 mujeres, 58,3%), de las cuales 4 pacientes presentaron fibroelastomas bilaterales. El síntoma másfrecuente fue el dolor. El diagnóstico se realizó mediante exploración física, tomografía computarizaday/o resonancia magnética nuclear para confirmar el diagnóstico en casos dudosos. La cirugía de exéresisse realizó bajo anestesia general sin observarse complicaciones mayores. El elastofibroma es un tumorde la pared torácica infrecuente y/o infradiagnosticado con un impacto incierto que requiere su exéresissolo en pacientes sintomáticos(AU)
Elastofibroma dorsi is a relatively rare soft-tissue tumour localized at the infra-scapular level and/orsubscapular regions. It usually occurs between the fourth and seventh decade of life, and is morecommon in females. We reviewed sixteen elastofibromas diagnosed in 12 patients (7 females, 58.3%).Four patients had bilateral elastofibromas. The most common symptom was pain. Presumptive diagnosiswas made by physical examination. Chest ultrasound, computed tomography and/or magnetic resonanceimaging were performed to confirm the diagnosis. Surgery was performed under general anaesthesia.No major complications were observed. Elastofibromas are tumours of the chest wall with an uncertainimpact. Surgical resection is indicated only in symptomatic patients(AU)
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Humanos , Masculino , Feminino , Neoplasias de Tecido Conjuntivo e de Tecidos Moles/diagnóstico , Neoplasias de Tecido Conjuntivo e de Tecidos Moles/cirurgia , Neoplasias de Tecido Conjuntivo e de Tecidos Moles/epidemiologia , Exame Físico/métodos , Tomografia/instrumentação , Neoplasias de Tecido Conjuntivo e de Tecidos Moles/etiologia , Neoplasias de Tecido Conjuntivo e de Tecidos Moles/patologia , Parede Torácica/lesões , Neoplasias de Tecido Conjuntivo e de Tecidos MolesRESUMO
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