Embryonal Sarcoma of the Liver in the Adult: Challenges in the Diagnosis of a Rare Entity.

Introduction: Embryonal sarcoma of the liver (ESL) is a rare neoplasm of the liver occurring mainly in paediatric ages. Making the correct diagnosis can be challenging as the laboratory and radiological findings that are often nonspecific, and the tumour immunophenotype is poorly defined and even somewhat variable. Case Presentation: A large epigastric mass was detected in a computerized tomography scan of a 43-year-old woman presenting with abdominal pain and bloating. The mass was biopsied and submitted to histopathological study. Microscopically the tumour had sarcomatoid features and showed multinucleated cells with periodic acid-Schiff (PAS)-positive globules. Immunostaining revealed positivity for vimentin, CD10, glypican-3, and α1-antitrypsin and negativity for keratins, muscle, adipocytic, and melanocytic differentiation markers. The patient was then submitted to a left hepatectomy with similar histological findings. Discussion: ESL in adults is a rarity and its diagnosis requires the exclusion of other entities. While some microscopic features are very common, they remain nonspecific. The main feature is the presence of multinucleated cells with PAS-positive hyaline globules. While ancillary testing is key, the immunophenotype also lacks specificity and ESL may have variable staining for glypican-3 and epithelial or muscle differentiation markers. Although it has been described for more than 3 decades, the prognosis and optimal treatment are still not well defined, but surgery has yielded favourable results.

Introdução: O sarcoma embrionario do figado (SEF) e uma neoplasia rara do figado que ocorre principalmente em idades pediatricas. Fazer o diagnostico correto pode ser um desafio, uma vez que os achados laboratoriais e radiologicos sao muitas vezes inespecificos e o imunofenotipo desta entidade e mal definido e algo variavel. Apresentação do caso: Foi detetada em tomografia computorizada (CT) abdominal uma massa epigastrica volu-mosa numa mulher de 43 anos apresentando dor abdominal e distensao abdominal. A massa foi biopsada e submetida a estudo histopatologico. Microscopicamente, o tumor tinha caracteristicas sarcomatoides e apresentava celulas multinucleadas com globulos hialinos com positividade para acido periodico Schiff (APS). O estudo imunohistoquimico revelou positividade para vimentina, CD10, glipicano-3 e α1-antitripsina e negatividade para queratinas e marcadores de diferenciacao muscular, adipocitica e melanocitica. Discussão/Conclusão: O SEF no adulto e uma raridade e o seu diagnostico requer a exclusao de outras entidades. Embora algumas caracteristicas microscopicas sejam muito comuns, estas permanecem inespecificas. A principal caracteristica e a presenca de celulas multinucleadas com globulos hialinos positivos para APS. Ainda que o estudo imunohistoquimico seja fundamental, o imunofenotipo tambem carece de especificidade e o SEF pode ter marcacao variavel para glipicano− 3 e marcadores de diferenciacao epitelial ou muscular. Apesar de ter sido descrito ha mais de tres decadas, o prognostico e o tratamento ideal ainda nao estao bem definidos, mas a cirurgia tem apresentado resultados favoraveis.

Autoimmune Hepatitis on a Living Liver Donor: An Unexpected Long-Term Complication.

In Western countries, deceased donor liver transplantation remains the standard of care for patients with end-stage liver disease. Living donor liver transplantation is a viable and feasible strategy for patients with end-stage liver disease designed to mitigate the deceased organ shortage. Donor safety is the primary concern because liver donors, ideally, should not have any complication. We report a case of middle-aged woman without a history of chronic liver disease who developed autoimmune hepatitis more than 20 years after live liver donation. Changes in these patients' liver enzymes should prompt swift referral to an hepatologist for initial liver disease work-up.

IgG4-Related Esophageal Disease Presenting as Esophagitis with Chronic Strictures.

IgG4-related disease is a recently recognized autoimmune systemic disorder that has been described in various organs. The disease is characterized histologically by a dense lymphoplasmacytic infiltrate with IgG4-positive cells, storiform fibrosis, obliterative phlebitis, and can be associated with space-occupying lesions. IgG4-related disease involving the upper gastrointestinal tract is rare. We report the case of a 30-year-old female patient with a long-standing history of severe dysphagia and odynophagia. Symptoms persisted despite anti-acid therapy, and control esophagogastroduodenoscopy revealed endoscopic images consistent with a nontransposable stenosis in the proximal esophagus. An underlying autoimmune process was suspected, and topical immunosuppressants were tried to control her disease. The patient maintained disabling dysphagia secondary to chronic esophageal strictures. A diagnosis of probable IgG4-related disease was made after esophageal biopsies. Treatment attempts with topical corticosteroids was not associated with a significant improvement of the symptoms of dysphagia and odynophagia, possibly because of the chronic nature of the disease associated with a high fibrotic component. This report describes a case of IgG4-related esophageal disease presenting as chronic esophagitis with strictures. We also briefly review the main histopathological features and treatment options in IgG4-related disease.

A doença relacionada com IgG4 é uma doença sistémica, autoimune, que pode acometer vários órgãos. Caracteriza-se histologicamente por um denso infiltrado linfoplasmocítico com células IgG4-positivas, fibrose e flebite obliterante, podendo estar associada a lesões ocupantes de espaço. A doença relacionada com IgG4 envolvendo o trato gastrointestinal superior é rara. Relatamos o caso de uma paciente de 30 anos com história de disfagia e odinofagia com vários anos de evolução, em que apesar da instituição de terapêutica antiácida, os sintomas persistiram. A endoscopia digestiva alta revelou imagens endoscópicas consistentes com uma estenose não transponível no esófago proximal. Suspeitou-se de um processo autoimune subjacente sendo tentada terapêutica imunossupressora tópica para controlo da doença. A paciente manteve disfagia incapacitante secundária a estenose esofágica crónica. O diagnóstico de provável doença relacionada com IgG4 foi feito após biópsias esofágicas. As tentativas de tratamento com corticosteroides tópicos não foram associadas a uma melhora significativa dos sintomas de disfagia e odinofagia, possivelmente devido à natureza crónica da doença associada a um elevado componente fibrótico. Este caso pretende ilustrar uma situação de doença esofágica relacionada com IgG4 apresentando-se como esofagite crónica estenosante. Apresentamos ainda, uma breve revisão das principais características histopatológicas e opções de tratamento em doenças relacionadas com IgG4.

Interim FDG18-PET SUVmax Variation Adds Prognostic Value to Deauville 5-Point Scale in the Identification of Patients with Ultra-High-Risk Diffuse Large B Cell Lymphoma.

INTRODUCTION: Interim response evaluation by 18F-fluorodeoxyglucose positron emission tomography/computed tomography (iPET) in diffuse large B cell lymphoma (DLBCL) could be important to rule out disease progression and has been suggested to be predictive of survival. However, treatment guidance by iPET is not yet recommended for DLBCL in clinical practice. We aimed to compare the predictive value of iPET when utilizing the visual Deauville 5-point scale (DS) and the semiquantitative variation of maximum standardized uptake value (ΔSUVmax). MATERIALS AND METHODS: We included 85 patients diagnosed with DLBCL and uniformly treated with standard protocols. iPET with DS of 1-3 and/or ΔSUVmax ≥66% was defined as negative. Univariable and multivariable Cox regression analyses were performed to determine the independent factors affecting progression free survival (PFS) or overall survival (OS) and to estimate PFS and OS. RESULTS: iPET positivity, measured by DS or ΔSUVmax, showed predictive value of disease refractoriness, improved by combining DS and ΔSUVmax. After a median follow-up of 50.1 months, iPET was an independent predictor for both PFS and OS when interpreted by DS, but only for PFS by ΔSUVmax. Combined visual and semiquantitative analysis (D4-5 & ΔSUVmax<66%) was an independent predictor of PFS and OS, and allowed to identify an ultra-high-risk subgroup of patients with very dismal outcome, increasing the discriminating capacity for iPET. CONCLUSION: Our study suggests that combined DS and ΔSUVmax in iPET assessment predicts refractory disease and distinguishes ultra-high-risk DLBCL patients with a very dismal prognosis, who may benefit from PET-guided therapy adjustment.

Gastric antral vascular ectasia: when treatment prolongs bleeding.

Gastric antral vascular ectasia (GAVE) is a common finding in endoscopic examinations of patients with liver cirrhosis. Although GAVE was first described in 1953 by Rider et al., its etiology as a cause of massive gastric bleeding is not fully understood. Herein, we discuss the theme of gastric hyperplastic polyps (HPs) after endoscopic band ligation (EBL) for GAVE.

Impact of Positive Surgical Margins After Partial Nephrectomy.

BACKGROUND: The impact of positive surgical margins (PSMs) after partial nephrectomy (PN) is controversial. OBJECTIVE: To evaluate the risk factors for a PSM and its impact on overall survival. DESIGN SETTING AND PARTICIPANTS: This is a retrospective study of 388 patients were submitted to PN between November 2005 and December 2016 in a single centre. Two groups were created: PSM and negative surgical margin (NSM) after PN. A p value of <0.05 was considered significant. OUTCOME MEASUREMENTS AND STATISTICAL ANALYSIS: Relationships with outcome were assessed using univariable and multivariable tests and log-rank analysis. RESULTS AND LIMITATIONS: The PSM rate was 3.8% (N = 16). The mean age at the time of surgery (PSM group: 64.1 ± 11.3 vs NSM group: 61.8 ± 12.8 yr, p = 0.5) and the mean radiological tumour size (4.0 ± 1.5 vs 3.4 ± 1.8 cm, p = 0.2) were similar. Lesion location (p = 0.3), surgical approach (p = 0.4), warm ischaemia time (p = 0.9), and surgery time (p = 0.06) had no association with PSM. However, higher surgeon experience was associated with a lower PSM incidence (2.6% if ≥30 PNs vs 9.6% if <30 PNs; p = 0.02). Higher operative blood loss (p = 0.02), higher-risk tumours (p = 0.03), and larger pathological size (p = 0.05) were associated with an increase in PSM. In the PSM group, recurrence rate (18.7% vs 4.2%, p = 0.007) and secondary total nephrectomy rate (25% vs 4.4%, p < 0.001) were higher. However, overall survival was similar. Multivariate analysis revealed that high-risk tumour (p = 0.05) and low experience (p = 0.03) could predict a PSM. Limitations include retrospective design and reduced follow-up time. CONCLUSIONS: PSMs were mainly associated with high-risk pathological tumour (p = 0.05) and low-volume surgeon experience. Recurrence rate and need for total nephrectomy were higher in that group, but no impact on survival was noticed. PATIENT SUMMARY: The impact of positive surgical margins (PSMs) after partial nephrectomy is a matter of debate. In this study, we found that PSMs were mainly associated with aggressive disease and low surgeon experience.

Liver Multiacinar Regenerative Nodules: Imaging Findings and Clinical Implications.

INTRODUCTION: Multiacinar regenerative nodules are benign hepatocellular nodules related to vascular disturbances of the liver. They strongly resemble conventional focal nodular hyperplasia but are connected to different clinical settings, typically chronic liver disease. The purpose of the present study was to describe the key imaging features of these lesions and compare them with a control arm of focal nodular hyperplasia. MATERIAL AND METHODS: A blinded consensus review of liver magnetic resonance consisting of 26 cases of multiacinar regenerative nodules and 25 cases of focal nodular hyperplasia was performed. Lesion size, shape, margins, structure, T1 and T2 signal intensity, diffusion and contrast-enhanced features (including hepatobiliary phase), presence of a central scar and of a peripheral hypointense rim were compared between the two groups. RESULTS: Significant differences between multiacinar regenerative nodules and focal nodular hyperplasia included size (median 2.35 cm, IQR: 2.13, vs 6.00 cm, IQR: 5.20, respectively, p < 0.001), presence of a peripheral hypointense rim after contrast (n = 9 vs n = 2 cases, p = 0.038) and of a central scar (n = 9 vs n = 20, p = 0.002). There were no other significant differences. DISCUSSION: Overall multiacinar regenerative nodules and focal nodular hyperplasia have very similar imaging features but lack of a central scar and presence of a hypointense rim should suggest a diagnosis of multiacinar regenerative nodules. CONCLUSIONS: Recognition of the imaging findings of multiacinar regenerative nodules can explain some atypical cases of focal nodular hyperplasia, avoiding unnecessary biopsies. They may also be the trigger to investigate an unsuspected underlying liver vascular abnormality.

Introdução: Nódulos regenerativos multiacinares são nódulos hepatocelulares benignos relacionados com alterações vasculares hepáticas. São muito semelhantes à hiperplasia nodular focal mas ocorrem num contexto diferente de doença hepática crónica. O objectivo deste trabalho foi descrever os achados imagiológicos principais destes nódulos e compará-los com um grupo controlo de hiperplasia nodular focal. Material e Métodos: Foi efectuada uma revisão cega de estudos por ressonância magnética de 26 casos de nódulos regenerativos multiacinares e 25 de hiperplasia nodular focal, sendo os dois grupos comparados quanto à dimensão das lesões, morfologia, margens, estrutura, aspecto em T1, T2, difusão e após contraste (incluindo na fase hepatobiliar), presença de cicatriz central e halo hipointenso. Resultados: Foram encontradas diferenças significativas entre nódulos regenerativos multiacinares e hiperplasia nodular focal quanto às dimensões das lesões (mediana 2,35 cm AIQ: 2,13 vs 6,00 cm AIQ: 5,20 respectivamente, p < 0,001), presença de halo hipointenso após contraste (n = 9 vs n = 2, p = 0,038) e de cicatriz central (n = 9 vs n = 20, p = 0,002). Não se observaram outras diferenças significativas. Discussão: Nódulos regenerativos multiacinares e hiperplasia nodular focal são globalmente muito semelhantes mas a ausência de cicatriz central e a presença de halo hipointenso deve sugerir o diagnóstico de nódulos regenerativos multiacinares. Conclusão: O reconhecimento dos achados imagiológicos de nódulos regenerativos multiacinares pode explicar alguns dos casos atípicos de hiperplasia nodular focal e prevenir biopsias desnecessárias. Pode também desencadear uma investigação mais aprofundada de anomalias vasculares hepáticas subjacentes eventualmente desconhecidas.

Surveillance in ulcerative colitis: is chromoendoscopy-guided endomicroscopy always better than conventional colonoscopy? A randomized trial.

BACKGROUND: Ulcerative colitis (UC) is associated with an increased risk of colorectal cancer. Chromoendoscopy showed superiority to conventional colonoscopy (CC) in surveillance studies including high-risk patients. We aimed to compare chromoendoscopy-guided endomicroscopy (CGE) with CC for intraepithelial neoplasia (IN) detection in patients with longstanding UC without primary sclerosing cholangitis and/or history of IN. METHODS: One hundred sixty-two patients with longstanding (≥ 8 yr) distal/extensive UC and without primary sclerosing cholangitis and/or history of IN were prospectively randomized to undergo CGE (group A) or CC (group B). Seventeen patients were excluded. In group A (n = 72), circumscribed lesions highlighted by pan-chromoendoscopy were evaluated by endomicroscopy, and targeted biopsy/polypectomy was performed. In group B (n = 73), 4 random biopsies every 10 cm and targeted biopsy/polypectomy of detected lesions were performed. RESULTS: Thirteen IN, all low grade, were detected: 7 IN in group A and 6 in group B (P > 0.05), distributed, respectively, by 6 and 4 patients (P > 0.05). Significantly, more biopsies were performed in group B (4.7 ± 4.9 versus 36.0 ± 6.2, P < 0.001), and the per-biopsy yield of IN was higher in group A (1/48 versus 1/438, P < 0.001). Examination time was 61.5 ± 15.6 minutes in group A and 40.7 ± 8.7 minutes in group B (P < 0.001). The IN detection by endomicroscopy revealed: sensitivity = 85.7%, specificity = 97.9%, positive predictive value = 75.0%, and negative predictive value = 98.9%. CONCLUSIONS: CGE does not improve the detection of IN in the endoscopic screening of patients with longstanding UC without primary sclerosing cholangitis and/or history of IN. CGE takes longer than CC, but it decreases the number of biopsies performed and significantly increases the per-biopsy yield of IN. Endomicroscopy is an accurate tool for IN detection.

Budd-Chiari syndrome in children and outcome after liver transplant.

BCS is a rare form of portal hypertension in children. The authors describe two cases of BCS with differing presentations. Case 1: Previously healthy four-yr-old girl. BCS was diagnosed during the course of an episode of acute gastroenteritis with dehydration. Despite conservative therapy for two months, the condition was progressive resulting in liver failure leading ultimately to LT. Molecular studies showed that she was heterozygous for the Factor (F) V Leiden. At follow-up, six yr post-LT (two yr without anticoagulation therapy), no thromboembolic/bleeding events were apparent. Case 2: Three-yr-old boy with IgA deficiency and liver disease. Following a febrile episode, he developed fulminant liver failure requiring urgent LT from a living donor (father). Molecular studies disclosed MTHFR C677T homozygosity and FV Leiden heterozygosity. The father was homozygous for the MTHFR mutation. Three months post-LT, persistent graft dysfunction was associated with stenosis of the IVC, which improved upon stent placement. He received dipyridamole and aspirin for five yr, after which time dipyridamole was discontinued. Evidence is sparse on the follow-up of BCS cases with liver transplant. The authors discuss their findings, particularly the need for long-term anticoagulation.

Liver haemangioma: common and uncommon findings and how to improve the differential diagnosis.

Haemangiomas are common focal liver lesions, generally detected in the work-up of asymptomatic patients. From the pathological point of view, they can be classified as small (capillary) or large, with cavernous vascular spaces that may show thrombosis, calcifications and hyalinisation. The polymorphic imaging appearance of haemangiomas depends on their histological features and flow pattern. The widespread use of cross-sectional imaging has allowed an increased detection rate and a better characterisation of this benign tumour. Recent developments of ultrasound (US), computed tomography (CT) and magnetic resonance imaging (MRI) providing high spatial and temporal resolution, together with the use of new contrast agents and/or pulse sequences has broadened the spectrum of imaging findings, contributing to diagnostic refinement in difficult cases. The scope of the present article is to provide an overview of the range of appearances of haemangiomas, explored with recent cross-sectional imaging modalities, emphasising its atypical findings as explored by temporally resolved contrast-enhanced imaging.