Molecular analysis of appendiceal mucinous cystadenoma and rectal adenocarcinoma in a patient with urothelial carcinoma: a case report

Introduction: In this report, we present the case of a patient affected by appendiceal cystadenoma, a colorectal adenocarcinoma, and a concomitant bladder carcinoma, as well as the results of the molecular study of the most relevant mutational pathways involved in these tumors. Case presentation: A 68-year-old Italian man was admitted to our unit complaining of macrohematuria, rectorrhagia, and rectal tenesmus for about 2 months. A colonoscopy showed the presence of a rectal lesion at 11cm from the anal margin; multiple biopsies were performed and a diagnosis of moderately differentiated adenocarcinoma was made. Abdominal ultrasonography and total body computed tomography performed subsequently to stage the rectal cancer showed the presence of two round nodules, interpreted as swollen lymph nodes of neoplastic origin, at the anterior aspect of the iliopsoas muscle and a budding lesion affecting the bladder. The patient underwent transurethral biopsy of the lesion in the right retrotrigonal region; the diagnosis was grade II urothelial carcinoma. The patient underwent an open anterior rectal resection with loco-regional lymphadenectomy. An enlarged appendix and a voluminous whitish soft-tissue lesion requiring an appendicectomy were detected perioperatively. Transurethral resection of the bladder lesion was also performed. The histological examination revealed that the nodular lesions in the appendix were due to a cystadenoma. For mutation analysis, genomic deoxyribonucleic acid was isolated from tumor tissue samples; for PIK3CA mutations, screening revealed that all three samples analyzed carried mutations in exon 9. Conclusions: Appendiceal mucoceles are rare but require adequate surgical treatment, given their malignant potential and the possibility of causing peritoneal pseudomyxoma. It is essential to make a correct preoperative evaluation based on a colonoscopy rather than ultrasound and computed tomography to exclude synchronous neoplasias often associated with mucoceles and to plan the optimum surgical strategy. The association between appendiceal mucoceles and other neoplasias is relatively frequent, especially with colorectal cancer. Oncogenic activation in the PIK3CA-depending pathway may contribute substantially to the pathogenesis of the different solid tumors in the same patient

Representing and coding the knowledge embedded in texts of Health Science Web published articles

Despite the fact that electronic publishing is a common activity to scholars electronic journals are still based in the print model and do not take full advantage of the facilities offered by the Semantic Web environment. This is a report of the results of a research project with the aim of investigating the possibilities of electronic publishing journal articles both as text for human reading and in machine readable format recording the new knowledge contained in the article. This knowledge is identified with the scientific methodology elements such as problem, methodology, hypothesis, results, and conclusions. A model integrating all those elements is proposed which makes explicit and records the knowledge embedded in the text of scientific articles as an ontology. Knowledge thus represented enables its processing by intelligent software agents The proposed model aims to take advantage of these facilities enabling semantic retrieval and validation of the knowledge contained in articles. To validate and enhance the model a set of electronic journal articles were analyzed

K-ras and p53 mutations in colonic lavage fluid of patients with colorectal neoplasias

Background: The adenoma-carcinoma sequence has its molecular basis in several gene mutations of which K-ras and p53 are of paramount importance. The aims of this study were to evaluate whether these genetic alterations can be detected in colonic lavage fluid from patients with colorectal adenomas and carcinomas. Methods: In 45 patients with adenomas, 20 patients with colorectal carcinomas and 38 patients with non-neoplastic and noninflammatory diseases of the colon p53 and K-ras mutations were evaluated in colonic lavage fluid employing single-strand confirmation polymorphism analysis and dot-blot hybridization, respectively. Results: Mutations of the K-ras and the p53 gene were found in 15.6% (p = 0.065) of patients with adenomas, in 25.0% (p = 0.016) of patients with carcinomas and in 2.6% in the control group. Conclusion: Genetic alterations in the colonic lavage fluid could be an additional diagnostic tool for the surveillance of patients with colorectal neoplasias. Copyright (C) 2001 S. Karger AG, Basel

Neoplasias mamárias em canídeos

As neoplasias em pequenos animais têm grande relevância na clínica de animais de companhia, não só pela sua incidência crescente, como pela sua gravidade. O presente trabalho pretende ser uma revisão sobre o tema, associado a informações obtidas do Laboratório de Anatomia Patológica da Escola Superior Agrária de Viseu. As neoplasias mamárias têm maior incidência nas fêmeas, não esterilizadas, geriátricas, sendo raras em animais com menos de 7 anos. A maioria dos autores concorda que quase todas estas neoplasias são malignas. Alguns sinais de malignidade são o tamanho do tumor, superior a 3cm, aderência aos tecidos, ulceração e envolvimento dos gânglios linfáticos. Estas neoplasias podem disseminar-se pelo organismo, processo designado metastização. Os locais mais frequentes são os gânglios linfáticos, os pulmões e o fígado. A cirurgia é o tratamento de eleição, excepto para neoplasias que apresentem metastização. Está descrita a realização da esterilização como preventiva e complemento do tratamento das neoplasias mamárias. A bibliografia consultada permitiu coligir dados relevantes e que procuram explicar a génese das neoplasias mamárias, nomeadamente no que diz respeito às influências hormonais, ao diagnóstico, a sua classificação e prognóstico clínico. São apresentadas imagens de vários tipos de tumores mamários em cadelas

Occurrence of gastric cancer and carcinoids in atrophic gastritis during prospective long-term follow up

Objective. Atrophic gastritis (AG) is a risk condition for gastric cancer and type I gastric carcinoids. Recent studies assessing the overall risk of gastric cancer and carcinoids in AG at long-term follow up are lacking. This study aimed to investigate in a prospective cohort of AG patients the occurrence of gastric cancer and carcinoids at long-term follow up. Methods. A total of 200 AG patients from a prospective cohort (67% female, median age 55 years) with a follow up of 7.5 (range: 4-23.4) years were included. Inclusion criteria were presence of AG and at least one follow-up gastroscopy with biopsies at ≥4 years after AG diagnosis. Follow-up gastroscopies at 4-year intervals were performed. Results. Overall, 22 gastric neoplastic lesions were detected (crude incidence 11%). Gastric cancer was diagnosed in four patients at a median follow up of 7.2 years (crude incidence 2%). Eleven type I gastric carcinoids were detected at a median follow up of 5.1 years (crude incidence of 5.5%). In seven patients, six low-grade and one high-grade dysplasia were found. The annual incidence rate person-year were 0.25% (95% confidence interval [CI]: 0.067-0.63%), 0.43% (95% CI: 0.17-0.89%), and 0.68% (95% CI: 0.34-1.21%) for gastric cancer, dysplasia, and type I-gastric carcinoids, respectively. The incidence rates of gastric cancer and carcinoids were not different (p = 0.07). Conclusion. This study shows an annual incidence rate of 1.36% person-year for gastric neoplastic lesions in AG patients at long-term follow up. AG patients are similarly exposed to gastric cancer and type I gastric carcinoids

A comprehensive microarray-based DNA methylation study of 367 hematological neoplasms

Background: Alterations in the DNA methylation pattern are a hallmark of leukemias and lymphomas. However, most epigenetic studies in hematologic neoplasms (HNs) have focused either on the analysis of few candidate genes or many genes and few HN entities, and comprehensive studies are required. Methodology/Principal Findings: Here, we report for the first time a microarray-based DNA methylation study of 767 genes in 367 HNs diagnosed with 16 of the most representative B-cell (n = 203), T-cell (n = 30), and myeloid (n = 134) neoplasias, as well as 37 samples from different cell types of the hematopoietic system. Using appropriate controls of B-, T-, or myeloid cellular origin, we identified a total of 220 genes hypermethylated in at least one HN entity. In general, promoter hypermethylation was more frequent in lymphoid malignancies than in myeloid malignancies, being germinal center mature B-cell lymphomas as well as B and T precursor lymphoid neoplasias those entities with highest frequency of gene-associated DNA hypermethylation. We also observed a significant correlation between the number of hypermethylated and hypomethylated genes in several mature B-cell neoplasias, but not in precursor B- and T-cell leukemias. Most of the genes becoming hypermethylated contained promoters with high CpG content, and a significant fraction of them are targets of the polycomb repressor complex. Interestingly, T-cell prolymphocytic leukemias show low levels of DNA hypermethylation and a comparatively large number of hypomethylated genes, many of them showing an increased gene expression. Conclusions/Significance: We have characterized the DNA methylation profile of a wide range of different HNs entities. As well as identifying genes showing aberrant DNA methylation in certain HN subtypes, we also detected six genes—DBC1, DIO3, FZD9, HS3ST2, MOS, and MYOD1—that were significantly hypermethylated in B-cell, T-cell, and myeloid malignancies. These might therefore play an important role in the development of different HNs

HIV Infection and Non-AIDS-Defining Malignancies: an Outpatient Clinic Experience

Introdução: Os doentes infectados pelo Vírus da Imunodeficiência Humana têm um risco elevado de desenvolver diferentes tipos de Neoplasias. Com a introdução da terapêutica anti-retroviral de alta potência, e consequente aumento da sobrevida, assistimos a uma mudança do espectro das patologias relacionadas com a infecção, nomeadamente das doenças Oncológicas, com aumento das Neoplasias Não Definidoras em deterimento das Definidoras de SIDA. Material e Métodos: Caracterização dos doentes com infecção Vírus da Imunodeficiência Humana e diagnóstico de Neoplasias Não Definidoras acompanhados ao longo de 16 anos na Consulta de Medicina/Imunodeficiência do Hospital de São José, através da consulta dos processos clínicos e avaliação retrospectiva dos aspectos demográficos, epidemiológicos, clínico-laboratoriais, tratamento e sobrevida. Resultados: Nos 1042 doentes avaliados, foram identificados 34 casos de Neoplasias Não Definidoras, principalmente em homens(78%) e com idade mediana de 55 anos. As neoplasias mais frequentes foram: pulmão (20,6%), bexiga (17,6%), próstata (8,8%) e canal anal (5,9%), sendo o tempo médio entre o diagnóstico da infecção pelo Vírus da Imunodeficiência Humana e da Neoplasias Não Definidoras de 6,8 ± 4 anos. Na altura do diagnóstico da Neoplasias Não Definidoras a maioria dos doentes (78,8%) estava sob terapêutica anti-retroviral de alta potência, em média desde há 5,7 ± 3 anos, encontrando-se imunovirologicamente controlada. No total verificaram-se 45,5% óbitos, sobretudo em doentes com Neoplasia do pulmão (20%). Conclusão: Perante o risco de desenvolvimento de Neoplasias Não Definidoras nos doentes infectados pelo Vírus da Imunodeficiência Humana, torna-se fundamental o investimento em estratégias de prevenção, promoção de cessação tabágica e vacinação, bem como aplicação de protocolos de rastreio ajustados a esta população

Estudio retrospectivo de neoplasias mamarias caninas diagnosticadas histopatológicamente entre los años 2013 – 2018, en las clínicas veterinarias de Pereira

En Colombia, las neoplasias de glándula mamaria se han convertido en una de las problemáticas más comunes que se presentan en las clínicas y hospitales, representando estas, aproximadamente la mitad de los casos de neoplasias presentados en los caninos hembras. Las masas, tumores o neoplasias, son un desafío de diagnóstico para los médicos veterinarios debido a su diversa etiología y a un gran número de diagnósticos diferenciales. En varias ciudades de Colombia ya se tienen conceptualizadas las neoplasias mamarias más comunes en los caninos, sin embargo, aún se desconoce un dato que indique esta información en la ciudad de Pereira. En este trabajo se realizó un estudio retrospectivo de los tipos de neoplasias mamarias que fueron caracterizadas en diferentes clínicas de la ciudad de Pereira entre los años 2013 - 2018, buscando determinar los tipos de neoplasias presentadas en dicha ciudad y predisposición por raza y edad. De las 97 perras registradas, el 24% de las neoplasias mamarias presentadas se clasificaron como fibroadenomas, seguidas del adenocarcinoma con un 20% mientras que el 48% de los pacientes no presento diagnostico histopatológico. La distribución por razas de los tumores mamarios fue 33% la raza mestiza, seguida de la raza French Poodle con un 30%. En cuanto al rango de edad, entre los 10 a 15 años se presentó el mayor número de casos de neoplasia con un 57% de los casos (55/97). Además de esto las perras no esterilizadas mostraron mayor predisposición a padecer esta patología con un 52% de los casos

Studies on the clinical significance of nonesterified and total cholesterol in urine

Gas-liquid chromatographic determinations of nonesterified and total urinary cholesterol were performed in 137 normals, 264 patients with various internal diseases without evidence of neoplasias or diseases of the kidney or urinary tract, 497 patients with malignancies and 236 patients with diseases of the kidney, urinary tract infections or prostatic adenoma with residual urine. A normal range (mean±2 SD) of 0.2–2.2 mg/24 hours nonesterified cholesterol (NEC) and of 0.3–3.0 mg/24 hours total cholesterol (TC) was calculated. Values of urinary cholesterol excretion were independent of age and sex and did not correlate with cholesterol levels in plasma. Patients with various internal diseases, without evidence of neoplasias nor diseases of the kidney or obstruction of the urinary tract, showed normal urinary cholesterol excretions, as did patients with infections of the urinary tract. However, elevated urinary cholesterol was found in patients with diseases of the kidney or urinary tract obstruction (prostatic adenoma with residual urine), malignant diseases of the urogenital tract and metastasing carcinoma of the breast. In patients with other malignant diseases urinary cholesterol was usually normal. Lesions of the urothelial cell membranes are considered to be the most likely cause of urinary cholesterol hyperexcretion. The clinical value of urinary cholesterol determinations as a possible screening test for urogenital carcinomas in unselected populations is limited by lacking specificity, expensive methodology and low prevalence of the mentioned carcinomas, although elevated urinary cholesterol excretions have been observed in early clinical stages of urogenital cancers

Primary cerebral neoplasms associated with vascular malformations: anatomo-pathologic study of two cases

The association of intracerebral vascular malformations and primary cerebral neoplasm is rare. The most commonly found vascular malformation with neoplasm is intracranial arterial aneurysm. We describe two cases of vascular malformations associated with primary cerebral neoplasms, with histologic and immunohistochemical studies.A associação de malformações vasculares intracerebrais com neoplasias cerebrais primárias é rara. Mais comumente encontrados são os aneurismas arteriais intracranianos com neoplasias primárias. Relatamos dois casos de malformações vasculares associadas a neoplasias cerebrais primárias, com estudo histopatológico e imuno-histoquímico.Escola Paulista de Medicina Departamento de Anatomia PatológicaUNIFESP, EPM, Depto. de Anatomia PatológicaSciEL