A few studies have reported phyllodes tumors (PT) of the breast with germline TP53 mutations. Given this potential association and the high frequency of the TP53 p.R337H in southern and southeastern Brazil, the aim of this study was to assess whether p.R337H occurs among women diagnosed with such rare tumors in this region. Benign, borderline, and malignant breast PT were retrieved from eight pathology laboratories, and DNA was extracted from tumor tissue to perform p.R337H analysis. Overall, 128 cases classified as benign, 7 as borderline, and 13 as malignant PT were included in the study. The TP53 p.R337H mutation was identified in tumor cells of eight (5.4 %) cases. Analysis of DNA from non-tumoral tissue was possible in two of these, and both were p.R337H carriers in the germline. In addition, haplotype analysis was done in these two p.R337H carriers showing the presence of the founder haplotype previously reported in Brazilian mutation-positive individuals. Mutation frequency was significantly higher among malignant (3 of 13; 23 %) compared to benign tumors (5 of 128; 3.4 %) (p = 0.004). Mean age at PT diagnosis was not significantly different between mutation carriers and non-carriers. However, when subgroups where analyzed, the difference in age at diagnosis of carriers versus non-carriers within the group of benign tumors reached borderline significance. Our findings reinforce previous evidence that TP53 mutations have an important role in the development of both benign and malignant PT of the breast.
A desmoid tumor of the mediastinum was diagnosed and treated in a 35-year-old white male who presented with a right supraclavicular mass. He was treated with resection, which involved several vascular structures, requiring multiple vascular reconstructions followed by post-operative radiotherapy. The authors concluded that, when located in the mediastinum, the invasive character of such tumors and its tendency to recur may pose a considerable surgical challenge, requiring careful pre-operative planning and long term post-operative follow -up. The role of radiation therapy is limited to the control of local recurrences.
This clinical scenario illustrates that subclinical celiac disease may be an underdiagnosed cause of malabsorption after major upper gastrointestinal surgery and should be considered in the differential diagnosis of diarrhea after pancreatoduodenectomy.
Pneumonia eosinofílica crônica é uma entidade clínica rara que se caracteriza por infiltração alveolar e intersticial eosinofílica, de causa desconhecida. Os autores descrevem o caso de uma mulher branca de 49 anos, admitida por dispnéia aos mínimos esforços, de início insidioso e progressivo havia seis meses. Apresentava eosinofilia sérica e no escarro, radiografias de tórax com áreas de infiltração multifocais de distribuição irregular em ambos os pulmões e, na avaliação funcional pulmonar, distúrbio restritivo. O exame histopatológico de tecido pulmonar obtido por biópsia a céu aberto evidenciou pneumonia eosinofílica crônica. Houve marcada melhora clínica, radiológica e funcional após corticoterapia.
Os meningiomas representam um sexto de todas as neoplasias primárias do sistema nervoso central e raramente desenvolvem metástases extracranianas. A presença de metástases múltiplas, bem como de sintomas respiratórios, são raros. Relata-se o caso de uma paciente de 67 anos com sintomas respiratórios de início subagudo e sem história de doença pulmonar prévia, que apresentou múltiplas metástases pulmonares originadas de meningioma benigno intracraniano, seis meses após a ressecção do tumor primário.
Inflammatory pseudotumor of the lung is a rare form of benign neoplasia and is generally characterized by a solitary pulmonary nodule. The endobronchial presentation is uncommon. Conservative surgery remains the treatment of choice, and surgeons should always strive to achieve tumor-free margins due to the possibility of local recidivism. This article reports the case of a 36-year-old male patient with recurrent attacks of wheezing and cough. The patient underwent successful bronchoplasty for the resection of an endobronchial inflammatory pseudotumor.
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