Peutz-Jeghers syndrome: an unusual autopsy finding in pregnancy

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant polyposis entity that often remains undiagnosed. The major problems associated with PJS are acute complications due to (i) polyp-related intestinal obstruction, (ii) intussusception, and (iii) the risk of cancer in the long-term. We report the case of a 32-year-old female who presented at the emergency room with signs of acute abdomen and died during the clinical workup. She had a one-month history of nausea, vomiting, and diarrhea and was pregnant at about 30 weeks. There was no contributing past history except for undergoing small bowel resection in infancy. The postmortem examination revealed multiple arborizing polyps throughout the gastrointestinal tract, chiefly in the small bowel. Intestinal obstruction was found at the proximal jejunum with necrosis, perforation, and peritonitis. Histologically, the polyps were composed of tree branch-like bundles of smooth muscle covered by normalappearing glandular epithelium, confirming the diagnosis of hamartomatous polyps. No malignant or premalignant lesions were detected in the gastrointestinal tract or other organs. This case was an opportunity to analyze the natural history and the pathological features of the Peutz-Jeghers syndrome in an adult and to investigate the presence of neoplastic lesions associated with this condition

Necrotizing amebic colitis in an elder patient: an unexpected autopsy finding

Necrotizing amebic colitis is an uncommon amebiasis complication associated with high mortality. We present a case of necrotizing amebic colitis in an old patient whose diagnosis was revealed at postmortem examination. An 81-year-old man died at home without medical attention. The postmortem examination revealed ulcers involving the entire colon and intestinal perforation. The ulcers were large, geographic, and necrotizing, extending from the cecum to the rectum. The histological examination disclosed the infectious etiology by showing amebic trophozoites at the base of the ulcers. No extra-intestinal lesions were found. No information about previous episodes of dysentery or travel could be obtained. The potential role of aging or drug-causing immunosuppression and the evolution of chronic and latent intestinal infection to a severe and invasive form of amebiasis is discussed. This case reinforces the value of postmortem examination for diagnosing diseases not clinically identified

Estrongiloidíase intestinal invasiva como causa de abdome agudo, em paciente submetido à corticoterapia

Overwhelming helminthiasis is still a problem in endemic areas, especially in immunocompromised patients. We report a case of invasive intestinal strongyloidiasis that was clinically expressed as acute abdominal distress in a 73-year-old man from São Paulo who had been receiving methylprednisone, 20 mg/day, for one year for osteoarthritis. A surgical specimen from the ileum revealed invasive enteritis with severe infestation by Strongyloides stercoralis. The patient died of sepsis 6 days after surgery. The possibility of invasive strongyloidiasis should be considered in the differential diagnosis of acute abdominal distress in patients undergoing immunosuppressive therapy.A síndrome de hiperinfecção por Strongyloides stercoralis ainda constitui problema em áreas endêmicas, especialmente em pacientes portadores de imunosupressão. Os autores relatam um caso de estrongiloidíase intestinal invasiva, que se apresentou clinicamente com quadro de abdome agudo obstrutivo, em um paciente masculino de 73 anos, que estava recebendo metilprednisona 20 mg/dia há um ano devido à osteoartrite. O exame anatomopatológico de segmento do íleo demonstrou enterite invasiva com intensa infestação por Strongyloides stercoralis. O paciente evoluiu para óbito com quadro de septicemia, 6 dias após a intervenção cirúrgica. O presente caso destaca a importância da avaliação pré-operatória de estados co-mórbidos, mesmo em condições de urgência, visto que podem comprometer o êxito do tratamento cirúrgico e a vida do paciente. A possibilidade de estrongiloidíase intestinal invasiva deve ser considerada no diagnóstico diferencial dos quadros de abdome agudo em pacientes submetidos à terapêutica imunossupressora

Lesões proliferativas gástricas induzidas pelo refluxo duodenogástrico em ratos

PURPOSE: To analyze mucosal proliferation and its characteristics, through specific models of duodenogastric reflux, in the stomach of Wistar rats. METHODS: Seventy-five healthy and adult male rats were divided into three groups: group I - control (n = 25 animals), submitted to gastrotomy of the posterior wall of the glandular stomach; group II - DGR (n = 25 animals), submitted to duodenogastric reflux through latero-lateral gastrojejunal anastomosis in the posterior wall of the glandular stomach and group III - DGR-P (n = 25 animals), submitted to duodenogastric reflux through the pylorus following the same procedure of group II, sectioning and closing the afferent loop. The animals were observed during 36 weeks and subsequently the mucosal lesions were analyzed, with macroscopic and microscopic examination of the prepyloric, the gastrojejunostomy and the squamous area of the stomach. RESULTS: Group I did not present any kind of lesion. Macroscopic lesions of the prepyloric area in groups II and III were 0% and 20%, respectively. Macroscopic lesions of the gastrojejunal stoma in groups II and III were 36% and 88%, respectively, and 12% and 28%, respectively, in the squamous area. Microscopically, adenomatous hyperplasia (AH), squamous hyperplasia (SH) and adenocarcinoma (AC) were diagnosed. The occurrence of AH at the prepyloric area in groups II and III was 0% and 40%, respectively, and in the gastrojejunal stoma, 40% and 72%, respectively. The occurrence of SH in the squamous area in groups II and III was 12% and 20%, respectively, without statistical differences between the groups. AC was found only in three animals of groups III (12%). CONCLUSIONS: The duodenogastric reflux in this experimental model caused high frequency of proliferative lesions of the gastrojejunal stoma and in the prepyloric area, while adenocarcinoma was a rare occurrence.OBJETIVO: Avaliar as lesões proliferativas que se desenvolvem na mucosa gástrica de ratos Wistar após modelo específico de refluxo duodeno-gástrico. MÉTODOS: Foram utilizados 75 ratos adultos machos divididos em três grupos experimentais: o grupo I (controle) submetido a gastrotomia na parede posterior do estômago glandular (25 animais); o grupo II (RDG), foi submetido a gastrojejunoanastomose látero-lateral na parede posterior do estômago glandular (25 animais) e o grupo III (RDG-P) submetido a gastrojejunoanastomose látero-lateral na parede posterior do estômago glandular, com secção e fechamento da alça (25 animais). Os animais foram observados durante 36 semanas, após o que foram realizados estudos macroscópicos e microscópicos da anastomose gastrojejunal, da região pré-pilórica e região escamosa do estômago. RESULTADOS: Os animais do Grupo I não apresentaram nenhum tipo de lesão. No grupo II observou-se 40% de lesões do tipo hiperplasia adenomatosa na anastomose e 12% de hiperplasia escamosa. No grupo III obteve-se 40% de hiperplasia adenomatosa na mucosa pré-pilórica, 72 % de hiperplasia adenomatosa na mucosa da anastomose, 20% de hiperplasia escamosa e 12 % de adenocarcinoma. CONCLUSÕES: O refluxo duodeno-gástrico induz a alta freqüência de lesões proliferativas na mucosa adjacente à anastomose gastrojejunal ou na mucosa pré-pilórica e o adenocarcinoma é um evento raro neste modelo experimental.20721

An overview of chemically induced rodent models for sporadic colorectal cancer: Histopathological and translational perspectives

Globally, colorectal cancer (CRC) is one of the most frequently diagnosed human gastrointestinal neoplasia and the second leading cause of cancer-related death in both men and women. Despite considerable efforts currently devoted to the study of the biology and treatment of CRC, patient prognosis and survival are still poor. Sporadic CRC is a complex multistep disease and usually emerges in the setting of lifestyle and dietary changes mainly observed in industrialized countries with high human development index (HDI) (westernized style). The molecular pathogenesis of sporadic CRC presents genetic heterogeneity with APC, RAS, PIK3CA, TGFBR, SMAD4, and TP53 mutations usually detected during the progression of this malignancy. The establishment of sporadic CRC models has become essential for both basic and translational research to improve our understanding of the pathophysiology, unravel new molecular drivers, and preventive/ therapeutic improvement of this malignancy. Chemically induced rodent models of sporadic CRC recapitulate most key morphological and genetic/epigenetic events observed during the promotion and progression of this malignancy, establishing effective diagnostic and prevention strategies to be translated into clinical practice. The present review gathers the main features of the state-of-the-art evidence on chemically induced rodent models, widely applied for translational modelling of sporadic CRC with a specific focus on histopathology and prevention perspectives. Our narrative review reinforces the persistent value of these bioassays and encourages the use of multimodel strategies for further investigation

PIK3CA mutations are frequent in esophageal squamous cell carcinoma associated with chagasic megaesophagus and are associated with a worse patient outcome

Chronic diseases such as chagasic megaesophagus (secondary to Chagas' disease) have been suggested as etiological factors for esophageal squamous cell carcinoma; however, the molecular mechanisms involved are poorly understood.Background Chronic diseases such as chagasic megaesophagus (secondary to Chagas’ disease) have been suggested as etiological factors for esophageal squamous cell carcinoma; however, the molecular mechanisms involved are poorly understood. Objective We analyzed hotspot PIK3CA gene mutations in a series of esophageal squamous cell carcinomas associated or not with chagasic megaesophagus, as well as, in chagasic megaesophagus biopsies. We also checked for correlations between the presence of PIK3CA mutations with patients’ clinical and pathological features. Methods The study included three different groups of patients: i) 23 patients with chagasic megaesophagus associated with esophageal squamous cell carcinoma (CM/ESCC); ii) 38 patients with esophageal squamous cell carcinoma not associated with chagasic megaesophagus (ESCC); and iii) 28 patients with chagasic megaesophagus without esophageal squamous cell carcinoma (CM). PIK3CA hotspot mutations in exons 9 and 20 were evaluated by PCR followed by direct sequencing technique. Results PIK3CA mutations were identified in 21.7% (5 out of 23) of CM/ESCC cases, in 10.5% (4 out of 38) of ESCC and in only 3.6% (1 case out of 28) of CM cases. In the CM/ESCC group, PIK3CA mutations were significantly associated with lower survival (mean 5 months), when compared to wild-type patients (mean 2.0 years). No other significant associations were observed between PIK3CA mutations and patients’ clinical features or TP53 mutation profile. Conclusion This is the first report on the presence of PIK3CA mutations in esophageal cancer associated with chagasic megaesophagus. The detection of PIK3CA mutations in benign chagasic megaesophagus lesions suggests their putative role in esophageal squamous cell carcinoma development and opens new opportunities for targeted-therapies for these diseases.CAPES and FAPESP - Fundação de Amparo à Pesquisa do Estado de São Paulo [Grant number 2015/20077–3 to FFM] and Barretos Cancer Hospital internal research funds (PAIP)info:eu-repo/semantics/publishedVersio

Esôfago de Barrett e displasia: critérios diagnósticos Barret's esophagus and dysplasia: diagnostic criteria

A presente revisão focaliza aspectos conceituais e os principais problemas diagnósticos referentes ao esôfago de Barrett e à displasia. O esôfago de Barrett resulta de complicação da doença do refluxo gastroesofágico de longa duração. É identificado endoscopicamente pela presença de mucosa glandular no esôfago tubular acima da junção esofagogástrica. Histologicamente, é caracterizado pela substituição do epitélio estratificado pavimentoso por epitélio colunar especializado com células caliciformes, expresso como metaplasia intestinal. A importância biológica do esôfago de Barrett é o risco de progressão para câncer. A displasia é o principal marcador biológico preditivo de evolução para adenocarcinoma. Identificar e graduar a displasia constitui importante questão na prática diagnóstica. O diagnóstico patológico do esôfago de Barrett deve conter informações sobre a investigação de displasia. O principal diagnóstico diferencial da displasia é feito em relação a reatividade e regeneração epitelial no contexto de inflamação da mucosa. Como a variabilidade de interpretação é um dos principais problemas no diagnóstico da displasia, os casos de esôfago de Barrett devem ser enviados à consulta para segunda opinião diagnóstica. O exame anatomopatológico é fundamental para definir o diagnóstico de esôfago de Barrett e para rastrear a displasia, que é o principal marcador de risco para câncer nesta entidade.<br>This review focuses on conceptual aspects of Barrett's esophagus and Barrett's related dysplasia and highlights current diagnostic problems on the interpretation of these lesions. Barrett's esophagus results from longstanding gastroesophageal reflux. Endoscopically it is recognized by the presence of glandular mucosa in the tubular esophagus above the esophagogastric junction at variable lenghts. Histologically it is characterized by the presence of specialized columnar epithelium with globet cells expressed as intestinal metaplasia. The importance of Barret's esophagus is the risk for developing adenocarcinoma. Dysplasia is the main biomarker for the progression to adenocarcinoma. The pathologic diagnosis of Barrett's esophagus should contain information on the presence and grade of dysplasia. Distinguishing betweeen dysplasia and regenerative changes in the face of active inflammation may be difficult. Correct interpretation and grading of dysplasia is an important goal for pathologists, since it is a major factor on follow-up and treatment of the patients