ABSTRACT
BACKGROUND: The von Hippel-Lindau disease is a highly penetrant autosomal dominant syndrome characterized by tumor predisposition in different organs. AIM: This study aimed to describe a case of a pancreatoduodenectomy for a 30-year-old male patient with von Hippel-Lindau disease. METHODS: We present a case study and the literature review aiming at the state-of-the-art management of a patient with pheochromocytoma, capillary hemangioblastoma in the peripheral retina, and two neuroendocrine tumors in the pancreas. RESULTS: A larger pancreatic lesion was located in the uncinate process, measuring 31 mm. The smaller lesion was located in the proximal pancreas and was detected only on the positron emission tomography-computed tomography scan with DOTATOC-68Ga. Genetic investigation revealed a mutation in the locus NM_000551.3 c.482G>A (p.Arg161Gln) of the Von Hippel-Lindau Human Suppressor gene. The uncinate process tumor was larger than 30 mm and the patient had a mutation on exon 3; therefore, we indicated a pancreatoduodenectomy involving the proximal pancreas to resect both tumors en bloc. During the postoperative period, the patient presented a peripancreatic fluid collection, which was treated as a grade B pancreatic fistula with clinical resolution of the complication. On postoperative day 21, he was discharged home. CONCLUSION: The management of patients with von Hippel-Lindau disease and pancreatic neuroendocrine tumors is complex and must be centered on tertiary institutions with a large volume of pancreatic surgery. Although the current literature assists in decision-making in most situations, each step of the treatment requires analysis and discussion between different medical specialties, including surgeons, clinicians, radiologists, and anesthesiologists.
Subject(s)
Neuroendocrine Tumors , von Hippel-Lindau Disease , Male , Humans , Adult , von Hippel-Lindau Disease/complications , von Hippel-Lindau Disease/genetics , von Hippel-Lindau Disease/surgery , Pancreaticoduodenectomy , Pancreas , Syndrome , Neuroendocrine Tumors/complications , Neuroendocrine Tumors/genetics , Neuroendocrine Tumors/surgeryABSTRACT
ABSTRACT BACKGROUND: The von Hippel-Lindau disease is a highly penetrant autosomal dominant syndrome characterized by tumor predisposition in different organs. AIM: This study aimed to describe a case of a pancreatoduodenectomy for a 30-year-old male patient with von Hippel-Lindau disease. METHODS: We present a case study and the literature review aiming at the state-of-the-art management of a patient with pheochromocytoma, capillary hemangioblastoma in the peripheral retina, and two neuroendocrine tumors in the pancreas. RESULTS: A larger pancreatic lesion was located in the uncinate process, measuring 31 mm. The smaller lesion was located in the proximal pancreas and was detected only on the positron emission tomography-computed tomography scan with DOTATOC-68Ga. Genetic investigation revealed a mutation in the locus NM_000551.3 c.482G>A (p.Arg161Gln) of the Von Hippel-Lindau Human Suppressor gene. The uncinate process tumor was larger than 30 mm and the patient had a mutation on exon 3; therefore, we indicated a pancreatoduodenectomy involving the proximal pancreas to resect both tumors en bloc. During the postoperative period, the patient presented a peripancreatic fluid collection, which was treated as a grade B pancreatic fistula with clinical resolution of the complication. On postoperative day 21, he was discharged home. CONCLUSION: The management of patients with von Hippel-Lindau disease and pancreatic neuroendocrine tumors is complex and must be centered on tertiary institutions with a large volume of pancreatic surgery. Although the current literature assists in decision-making in most situations, each step of the treatment requires analysis and discussion between different medical specialties, including surgeons, clinicians, radiologists, and anesthesiologists.
RESUMO RACIONAL: A doença de von Hippel Lindau é uma síndrome autossômica dominante que se caracteriza por maior incidência de tumores em diferentes órgãos. OBJETIVO: Descrever um caso de pancreatoduodenectomia em paciente do sexo masculino de 30 anos com von Hippel Lindau. MÉTODO: Apresentamos o caso e a revisão da literatura realizada para otimizar o manejo do paciente, que apresentava feocromocitoma, hemangioblastoma capilar na retina periférica e dois tumores neuroendócrinos no pâncreas. RESULTADOS: O maior tumor pancreático localizava-se no processo uncinado medindo 31 mm. A lesão menor estava localizada no corpo proximal do pâncreas e foi detectada apenas na tomografia computadorizada por emissão de pósitrons com DOTATOC-68Ga. A investigação genética revelou uma mutação no locus NM_000551.3 c.482G>A (p.Arg161Gln) do gene supressor humano de Von Hippel-Lindau. O tumor no processo era maior que 30mm e o paciente apresentava mutação no exon 3. Indicamos pancreatoduodenectomia envolvendo o corpo proximal do pâncreas para ressecar em bloco ambos os tumores. No pós-operatório o paciente apresentou coleção líquida peripancreática que foi tratada como fístula pancreática grau B, com resolução clínica da complicação. Ele recebeu alta hospitalar no vigésimo primeiro dia pós-operatório. CONCLUSÕES: o manejo de pacientes com doença de von Hippel Lindau e tumores neuroendócrinos pancreáticos é complexo e deve ser centrado em instituições terciárias com grande volume de cirurgia pancreática. Embora a literatura atual auxilie na tomada de decisão na maioria das situações, cada etapa do tratamento requer análise e discussão entre diferentes especialidades médicas, incluindo cirurgiões, clínicos, radiologistas e anestesiologistas.
ABSTRACT
BACKGROUND/AIMS: Consistently defining disease activity remains a critical challenge in the follow-up of patients with Crohn's disease (CD). We investigated the potential applicability of abdominal ultrasonography with color Doppler (USCD) analysis for the detection of morphological alterations and inflammatory activity in CD. METHODS: Forty-three patients with CD ileitis/ileocolitis were evaluated using USCD analysis with measurements obtained on the terminal ileum and right colon. Sonographic parameters included wall thickening, stricture, hyperemia, presence of intra-abdominal mass, and fistulas. Patients were evaluated for the clinical activity (Harvey-Bradshaw Index [HBI]), fecal calprotectin (FC) and C-reactive protein (CRP). The USCD performance was assessed using magnetic resonance enterography (MRE) as a criterion standard. RESULTS: Most measurements obtained with USCD matched the data generated with MRE; however, the agreement improved in clinically active patients where sensitivity, positive predictive value, and accuracy were >80%, considering wall thickening and hyperemia. Complications such as intestinal wall thickening, stricture formation, and hyperemia, were detected in the USCD analysis with moderate agreement with MRE. The best agreement with the USCD analysis was obtained in regard to FC, where the sensitivity, positive predictive value, and accuracy were >70%. The overall performance of USCD was superior to that of HBI, FC and CRP levels, particularly when considering thickening, stricture, and hyperemia parameters. CONCLUSIONS: USCD represents a practical noninvasive and low-cost tool for evaluating patients with ileal or ileocolonic disease, particularly in clinically active CD. Therefore, USCD might become a useful asset in the follow-up of patients with CD.
ABSTRACT
The aim of this pictorial essay is to review the spectrum of fat-containing liver lesions and their characterisation on magnetic resonance imaging with focus on the radiological features that aid in the differential diagnoses. Fat-containing liver lesions comprise a heterogeneous group of tumours with variable imaging findings. Magnetic resonance imaging clearly displays the micro- and macroscopic fat components of the lesions and other characteristic features that are helpful tools to make the differential diagnosis.
ABSTRACT
Abstract The aim of this pictorial essay is to review the spectrum of fat-containing liver lesions and their characterisation on magnetic resonance imaging with focus on the radiological features that aid in the differential diagnoses. Fat-containing liver lesions comprise a heterogeneous group of tumours with variable imaging findings. Magnetic resonance imaging clearly displays the micro- and macroscopic fat components of the lesions and other characteristic features that are helpful tools to make the differential diagnosis.
Resumo O objetivo deste ensaio é rever o espectro de lesões hepáticas que contêm gordura e caracterizar seus aspectos de imagem na ressonância magnética, com foco nas características radiológicas que auxiliam no diagnóstico diferencial. As lesões hepáticas que contêm gordura compreendem um grupo heterogêneo de tumores com aspectos de imagem variáveis. A ressonância magnética exibe claramente os componentes de gordura microscópica e macroscópica das lesões e outras características que são úteis para fazer diagnósticos diferenciais.
ABSTRACT
Background : Liver metastases of colorectal cancer are frequent and potentially fatal event in the evolution of patients with these tumors. Aim : In this module, was contextualized the clinical situations and parameterized epidemiological data and results of the various treatment modalities established. Method: Was realized deep discussion on detecting and staging metastatic colorectal cancer, as well as employment of imaging methods in the evaluation of response to instituted systemic therapy. Results : The next step was based on the definition of which patients would have their metastases considered resectable and how to expand the amount of patients elegible for modalities with curative intent. Conclusion : Were presented clinical, pathological and molecular prognostic factors, validated to be taken into account in clinical practice.
Racional : As metástases hepáticas de câncer colorretal são evento frequente e potencialmente fatal na evolução de pacientes com estas neoplasias. Objetivo : Neste módulo procurou-se contextualizar esta situação clínica, bem como parametrizar dados epidemiológicos e de resultados das diversas modalidades de tratamento estabelecidas. Método : Foi realizada discussão sobre como detectar e estadiar o câncer colorretal metastático, bem como o emprego dos métodos de imagem na avaliação de resposta ao tratamento sistêmico instituído. Resultado : Fundamentou na definição de quais pacientes teriam suas metástases consideradas ressecáveis e de como se poderia ampliar a gama de pacientes submetidos às modalidades de tratamento ditas de intuito curativo. Conclusão : Foram apresentados os fatores prognósticos clínicos, patológicos e moleculares com validação para serem levados em consideração na prática clínica.
Subject(s)
Humans , Colorectal Neoplasms/pathology , Liver Neoplasms/secondary , Liver Neoplasms/therapy , Brazil , Combined Modality Therapy , Practice Guidelines as TopicABSTRACT
BACKGROUND: Liver metastases of colorectal cancer are frequent and potentially fatal event in the evolution of patients with these tumors. AIM: In this module, was contextualized the clinical situations and parameterized epidemiological data and results of the various treatment modalities established. METHOD: Was realized deep discussion on detecting and staging metastatic colorectal cancer, as well as employment of imaging methods in the evaluation of response to instituted systemic therapy. RESULTS: The next step was based on the definition of which patients would have their metastases considered resectable and how to expand the amount of patients elegible for modalities with curative intent. CONCLUSION: Were presented clinical, pathological and molecular prognostic factors, validated to be taken into account in clinical practice.
Subject(s)
Colorectal Neoplasms/pathology , Liver Neoplasms/secondary , Liver Neoplasms/therapy , Brazil , Combined Modality Therapy , Humans , Practice Guidelines as TopicABSTRACT
A caracterização das lesões hepáticas focais é muito importante. A ressonância magnética é considerada o melhor método de imagem para a avaliação destas lesões, mas não permite o diagnóstico em todos os casos. Os contrastes hepatobiliares aumentam a acurácia diagnóstica da ressonância magnética e diminuem o número de lesões hepáticas indefinidas. Suas principais indicações são a diferenciação entre hiperplasia nodular focal e adenoma, caracterização de carcinoma hepatocelular em pacientes cirróticos, detecção de metástases hepáticas pequenas, avaliação da anatomia biliar e identificação de fístulas biliares pós-operatórias. A utilização dos contrastes hepatobiliares pode reduzir a necessidade de procedimentos diagnósticos invasivos e de avaliação complementar por outros exames de imagem, além de diminuir a necessidade de exames de acompanhamento.
The characterization of focal liver lesions is very important. Magnetic resonance imaging is considered the best imaging method for evaluating such lesions, but does not allow for the diagnosis in all cases. The use of hepatobiliary contrast agents increases the diagnostic accuracy of magnetic resonance imaging and reduces the number of non-specific liver lesions. The main indications for the method include: differentiation between focal nodular hyperplasia and adenoma; characterization of hepatocellular carcinomas in cirrhotic patients; detection of small liver metastases; evaluation of biliary anatomy; and characterization of postoperative biliary fistulas. The use of hepatobiliary contrast agents may reduce the need for invasive diagnostic procedures and further investigations with other imaging methods, besides the need for imaging follow-up.
ABSTRACT
The characterization of focal liver lesions is very important. Magnetic resonance imaging is considered the best imaging method for evaluating such lesions, but does not allow for the diagnosis in all cases. The use of hepatobiliary contrast agents increases the diagnostic accuracy of magnetic resonance imaging and reduces the number of non-specific liver lesions. The main indications for the method include: differentiation between focal nodular hyperplasia and adenoma; characterization of hepatocellular carcinomas in cirrhotic patients; detection of small liver metastases; evaluation of biliary anatomy; and characterization of postoperative biliary fistulas. The use of hepatobiliary contrast agents may reduce the need for invasive diagnostic procedures and further investigations with other imaging methods, besides the need for imaging follow-up.
A caracterização das lesões hepáticas focais é muito importante. A ressonância magnética é considerada o melhor método de imagem para a avaliação destas lesões, mas não permite o diagnóstico em todos os casos. Os contrastes hepatobiliares aumentam a acurácia diagnóstica da ressonância magnética e diminuem o número de lesões hepáticas indefinidas. Suas principais indicações são a diferenciação entre hiperplasia nodular focal e adenoma, caracterização de carcinoma hepatocelular em pacientes cirróticos, detecção de metástases hepáticas pequenas, avaliação da anatomia biliar e identificação de fístulas biliares pós-operatórias. A utilização dos contrastes hepatobiliares pode reduzir a necessidade de procedimentos diagnósticos invasivos e de avaliação complementar por outros exames de imagem, além de diminuir a necessidade de exames de acompanhamento.
ABSTRACT
Modern MR imaging evaluation of the liver allows for a comprehensive morphologic and functional assessment of the liver parenchyma, hepatic vessels, and biliary tree, thus aiding in the diagnosis of both focal and diffuse liver diseases.
