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Cholangiopathy has been described in survivors of severe COVID-19, presenting significant clinical parallels to the pre-pandemic condition of secondary sclerosing cholangitis in critically ill patients (SSC-CIP). We aimed to examine the liver histopathology of individuals with persistent cholestasis after severe COVID-19. METHODS: We subjected post-COVID-19 cholestasis liver samples to routine staining techniques and cytokeratin 7 immunostaining and semi-quantitatively analyzed the portal and parenchymal changes. RESULTS: All ten patients, five men, had a median age of 56, an interquartile range (IQR) of 51-60, and required intensive care unit and mechanical ventilation. The median and IQR liver enzyme concentrations proximal to biopsy were in IU/L: ALP 645 (390-1256); GGT 925 (664-2169); ALT 100 (86-113); AST 87 (68-106); and bilirubin 4 (1-9) mg/dL. Imaging revealed intrahepatic bile duct anomalies and biliary casts. We performed biopsies at a median of 203 (150-249) days after molecular confirmation of infection. We found portal and periportal fibrosis, moderate-to-severe ductular proliferation, and bile duct dystrophy in all patients, while we observed hepatocyte biliary metaplasia in all tested cases. We observed mild-to-severe parenchymal cholestasis and bile plugs in nine and six cases. We also observed mild swelling of the arteriolar endothelial cells in five patients. We observed a thrombus in a small portal vein branch and mild periductal fibrosis in one case each. One patient developed multiple small biliary infarctions. We did not observe ductopenia in any patient. CONCLUSIONS: The alterations were like those observed in SSC-CIP; however, pronounced swelling of endothelial cells, necrosis of the vessel walls, and thrombosis in small vessels were notable.

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SUMMARY: Hemangiomas are the most common non-cystic benign liver tumors. Typically, they are incidentally discovered through routine radiological imaging. These tumors can become complicated and develop fibrosis, with the extreme presentation being hepatic sclerosing hemangioma (HSH), a very rare, atypical benign tumor. Initial diagnosis of HSH is often erroneous, as it can be confused with primary or secondary malignant liver neoplasms. Consequently, HSH are frequently resected, and the diagnosis is confirmed through histological and immunohistochemical studies of the resected specimen. The aim of this manuscript was to report a surgically treated case of HSH and review the existing evidence regarding its clinical and morphological characteristics. The case of a 79-year-old male patient, who underwent surgical intervention for HSH at RedSalud Mayor Temuco Clinic in October 2023, was examined. A solid tumor situated Segment VI, measuring 4 cm in its largest dimension was identified. MRI demonstrated a mass with low-signal intensity mass on T1-weighted images and areas of high-signal intensity on T2-weighted images and a hypointense mass in the hepatobiliary phase. The tumor was completely excised. Subsequent to histopathological analysis, immunohistochemical staining was performed for WT1, CD31, ERG, CD34, and Pancitoqueratina AE3 & AE1. The patient experienced an uneventful postoperative course and was discharged on the third day after the surgery. During follow-up assessments, the patient's overall condition remains satisfactory. HSH is an exceedingly rare tumor. Clinical features and imaging findings associated with this type of lesion are non-specific. It should be included in the differential diagnosis of solid liver lesions. Complete surgical resection with clear margins is the treatment of choice, and it prognosis is favorable.

Los hemangiomas son los tumores hepáticos no quísticos benignos más comunes. Lo habitual es que se descubran de forma incidental con imágenes radiológicas de rutina. Estos pueden complicarse y desarrollar fibrosis, cuya presentación extrema es el hemangioma esclerosante hepático (HEH); un tumor benigno atípico muy poco frecuente, cuyo diagnóstico inicial suele ser erróneo, confundiéndose con neoplasias malignas primarias o secundarias del hígado. Por ello, es frecuente que sean resecadas y que el diagnóstico se establezca mediante estudios histológicos y de inmunohistoquímica del espécimen resecado. El objetivo de este manuscrito fue reportar un caso de HEH, que fue intervenido quirúrgicamente; y revisar la evidencia existente respecto de sus características morfológicas y clínicas. Caso clínico: Hombre de 79 años, con HEH intervenido quirúrgicamente en Clínica RedSalud Mayor Temuco en octubre de 2023. Se verificó un tumor sólido de 4 cm de diámetro mayor, localizado en el segmento VI del hígado. La resonancia magnética demostró una masa con baja intensidad de señal en T1 y áreas de alta intensidad de señal en T2. El tumor fue extirpado por completo. Después del estudio histopatológico, se realizaron tinciones inmunohistoquímicas complementarias para WT1, CD31, ERG, CD34 y Pancitoqueratina AE3 & AE1. El paciente tuvo un curso postoperatorio sin incidentes, siendo dado de alta al tercer día postoperatorio. En el control alejado, se encuentra en buenas condiciones generales. El HEH es un tumor muy poco frecuente. Las características clínicas e imágenes de este tipo de lesiones son inespecíficas. Debe de las lesiones sólidas del hígado. La resección considerarse en el diagnóstico diferencial quirúrgica completa con bordes libres es el tratamiento de elección; y su pronóstico es favorable.

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A rare condition, sclerosing encapsulating peritonitis, is characterized by a fibrotic membrane forming over the bowels, leading to intestinal obstruction. In this case of a 56-year-old male patient with a history of laparoscopic gastric bypass, a computed tomography scan showed findings indicative of the condition. Extensive adhesiolysis was performed, and biopsies confirmed the presence of fusiform cells (D2-40 positive on immunochemistry) resembling fibroblasts, within dense collagenous peritoneal tissue sheets, typical of sclerosing encapsulating peritonitis. The prevalence of this condition is uncertain, and diagnosis typically requires a peritoneal biopsy due to the nonspecific clinical presentation.

La peritonitis esclerosante encapsulada es una condición rara caracterizada por una membrana fibrótica que se genera sobre las asas intestinales causando cuadros de oclusión intestinal. Se presenta el caso de un paciente varón de 56 años con antecedente de derivación gastroyeyunal por laparoscopia que presenta oclusión intestinal. Se realizó tomografía computada que evidenció sitio de transición previo al sitio de anastomosis. Se realizó de anastomosis extensa y toma de biopsias. Histológicamente se observó engrosamiento de la membrana peritoneal, células fusiformes (D2-40 positivo en inmunohistoquímica) similares a fibroblastos con láminas de colágeno peritoneal denso. La peritonitis esclerosante encapsulada es una patología de prevalencia desconocida. El cuadro clínico es inespecífico y el diagnóstico definitivo es por patología con biopsia peritoneal.

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PURPOSE: To report two cases of non-granulomatous unilateral anterior uveitis in two female patients associated with autoimmune liver diseases (ALD), emphasizing the possibility of this rare coexistence as a polyautoimmunity phenomenon. CASE DESCRIPTIONS: Case 1: An 18-year-old female with a history of congenital renal hypoplasia and metabolic syndrome presented with anterior uveitis in OS and a history of jaundice, blood elevated hepatic enzymes, and cholangioresonance compatible with primary sclerosing cholangitis (PSC). Laboratory work-up for additional autoimmune and infective causes were within normal limits. Case 2: An 58-year-old female presented an episode of anterior uveitis in OD and a history of Sjögren syndrome diagnosed at the age of 53, primary biliary cholangitis (PBC), systemic sclerosis, Raynaud's phenomenon, bilateral sacroiliitis, and vitiligo, consistent with polyautoimmunity and multiple autoimmune syndrome. CONCLUSIONS: Uveitis rarely coexists with ALD. However, it is essential to recognize the possibility of polyautoimmunity in patients presenting with ophthalmic manifestations and a previous diagnosis of ALD, such as PSC or PBC.

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Here we reported a case of primary sclerosing epitheloid fibrosarcoma (SEF) of the kidney, an extremely rare and aggressive tumor. The patient presented a mass in the upper part of the right kidney with pulmonary metastasis at the time of diagnosis, a right radical nephrectomy was performed, it was a solid tumor of 15 cm × 9 cm affecting almost the entire kidney. Histological study revealed a neoplasm of uniform epithelioid cells with scant cytoplasm with dense and sclerotic stroma. immunohistochemistry positive for MUC-4, detection by fusion of EWSR1-CREB3L1 by FISH positive.

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BACKGROUND: Primary sclerosing cholangitis (PSC) manifests within a broad ethnic and racial spectrum, reflecting different levels of access to health care. AIM: To evaluate the clinical profile, complications and survival rates of patients with PSC undergoing liver transplantation (LTx) at a Brazilian reference center. METHODS: All patients diagnosed with PSC before or after LTx were included. The medical records were reviewed for demographic and clinical variables, including outcomes and survival. The level of statistical significance was set at P < 0.05. RESULTS: Our cohort represented 1.6% (n = 34) of the 2113 patients receiving liver grafts at our service over the past two decades. Most were male (n = 19; 56%). The average age (40 ± 14 years) was similar for men and women (P = 0.347). The mean follow-up time from diagnosis to LTx was 68 mo. Most patients had the classic form of PSC. Three women had PSC/autoimmune hepatitis overlap syndrome, and one patient had small-duct PSC. Alkaline phosphatase levels at diagnosis and pre-LTx model for end-stage liver disease. scores were significantly higher in males. Inflammatory bowel research (IBD) was investigated by colonoscopy in 26/34 (76%) and was present in most cases (18/26; 69%). IBD was less common in women than in men (44.4% vs. 55.6%) (P = 0.692). Cholangiocarcinoma (CCA) was diagnosed in 2/34 (5.9%) patients by histopathology of the explant (survival: 3 years 6 mo, and 4 years 11 mo). Two patients had complications requiring a second LTx (one after 7 d due to hepatic artery thrombosis and one after 17 d due to primary graft dysfunction). Five patients (14.7%) developed biliary stricture. The overall median post-LTx survival was 66 mo. Most deaths occurred in the first year (infection n = 2, primary liver graft dysfunction n = 3, unknown cause n = 1). The 1-year and 5-year survival rates of this cohort were 82.3% and 70.6%, respectively, matching the mean overall survival rates of LTx patients at our center (87.1% and 69.43%, respectively) (P = 0.83). CONCLUSION: Survival after 1 and 5 years was similar to that of other LTx indications. The observed CCA survival rate suggests CCA may be an indication for LTx in selected cases.

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Sjögren's syndrome is a systemic autoimmune disease characterized by dry eyes and mouth due to the involvement of exocrine glands. However, it can manifest with GI symptoms that cover a broad spectrum from esophageal and intestinal dysmotility, achalasia, hypochlorhydria, and chronic atrophic gastritis to pancreatic enzyme deficiency, biliary dysfunction, and liver cirrhosis, which varies in its clinical manifestations and is often associated with erroneous approaches. This article reviews the GI manifestations of Sjögren's syndrome. It presents the case of a woman in her eighth decade of life with this syndrome. She showed asymptomatic hepatobiliary disease, documented abnormalities in liver profile tests, and a subsequent diagnosis of primary sclerosing cholangitis, for which she received initial treatment with ursodeoxycholic acid. During her condition, the patient has had three episodes of cholangitis, requiring endoscopic retrograde cholangiopancreatography with no findings of stones, with scant biliary sludge and discharge of purulent bile precipitated by her underlying liver disease. The association between Sjögren's syndrome and primary sclerosing cholangitis is rare and calls for special consideration.

El síndrome de Sjögren es una enfermedad autoinmune sistémica que se caracteriza por la sequedad ocular y bucal debido a la afección de glándulas exocrinas; sin embargo, puede manifestarse con síntomas gastrointestinales que abarcan un espectro amplio desde la dismotilidad esofágica e intestinal, acalasia, hipoclorhidria y gastritis crónica atrófica hasta enzimodeficiencia pancreática, disfunción biliar y cirrosis hepática, que tiene variación en sus manifestaciones clínicas y se asocia con abordajes erróneos en muchas ocasiones. En este artículo se hace una revisión acerca de las manifestaciones gastrointestinales de síndrome de Sjögren y se presenta el caso de una mujer en la octava década de la vida con este síndrome, que cursa con enfermedad hepatobiliar asintomática, documentación de alteración en pruebas de perfil hepático y diagnóstico ulterior de colangitis esclerosante primaria, por lo que recibió un tratamiento inicial con ácido ursodesoxicólico. Durante el curso de su enfermedad ha presentado 3 episodios de colangitis, con requerimiento de colangiopancreatografía retrógrada endoscópica sin hallazgos de cálculos, con escaso barro biliar y salida de bilis purulenta, precipitada por su enfermedad hepática de base. La asociación entre el síndrome de Sjögren y la colangitis esclerosante primaria es infrecuente y justifica una consideración especial.

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Introducción: el colangiocarcinoma intrahepático es un cáncer agresivo de células epiteliales de los conductos biliares intrahepáticos y su desarrollo se asocia a inflamación crónica del árbol biliar. En Chile, su epidemiología es limitada y el presente estudio tiene por objetivo describir su tasa de mortalidad. Métodos: se realizó un estudio descriptivo observacional transversal y ecológico de las defunciones por carcinoma de vías biliares en Chile durante 2017 y 2021 según sexo, grupo etario y región de residencia. Resultados: la tasa de mortalidad nacional de personas mayores a 20 años durante el periodo estudiado fue de 1,56 por cada 100.000 habitantes. La tasa de mortalidad más alta del sexo masculino se observó en 2020, siendo de 2,61. La mayor mortalidad se encontró en personas mayores a 80 años en el sexo masculino con una tasa de 24,38. A nivel regional, en Magallanes se observó la mayor tasa de mortalidad con 5,66, mientras que Tarapacá presentó la menor tasa con un valor de 0,96. Finalmente, el índice de Swaroop fue igual o mayor al 92% en todas las regiones del país. Conclusión: la mayor mortalidad por colangiocarcinoma intrahepático se presenta en personas de edad avanzada y de sexo masculino. Interesantemente la mayor mortalidad por esta causa se concentra en la zona sur de Chile. Dada la magnitud del problema que representa esta enfermedad en la salud pública nacional es que futuros estudios son necesarios para establecer medidas de prevención y/o tratamiento de esta enfermedad.

Introduction: intrahepatic cholangiocarcinoma is an aggressive cancer of epithelial cells of the intrahepatic bile ducts, and its deve-lopment is associated with chronic inflammation of the biliary tree. In Chile, its epidemiology is limited, and the present study aims to describe its mortality rate. Methods: a descriptive, cross-sectional, observational, and ecological study of deaths from bile duct carcinoma in Chile between 2017 and 2021 was performed according to sex, age group, and region of residence. Results: the national mortality rate of people over 20 years old during the study period was 1.56 per 100,000 inhabitants. The highest mortality rate for the male sex was observed in 2020, with a value of 2.61. In turn, the highest mortality rate was found in people over 80 years old in the male sex, with a rate value of 24.38. On a regional level, Magallanes had the highest mortality rate, with a rate value of 5.66, while Tarapacá had the lowest rate, with a value of 0.96. Finally, Swaroop's index was equal to or greater than 92% in all regions of the country. Conclusion: the highest mortality from intrahepatic cholangiocarcinoma occurs in older people and males. Interestingly, the highest mortality from this cause is concentrated in the southern zone of Chile. Given the magnitude of the problem that this disease represents for national public health, future studies are necessary to establish both prevention measures and treatments

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La enfermedad de Erdheim-Chester (EEC) es una patología poco frecuente, caracterizada por presentar infiltración xantogranulomatosa sistémica, con afección de diversos sistemas incluido el óseo. La EEC se encuentra descripta dentro de las enfermedades osteocon-densantes (EO), las cuales se reconocen por presentar aumento de la masa ósea y compromiso tanto de huesos largos como planos. La presentación clínica de la EEC es variada: puede presentar desde un curso indolente hasta manifestaciones multisistémicas. Las características radiológicas son de gran importancia para establecer su diagnóstico. Presentamos una paciente con EEC, con esclerosis bilateral de huesos largos, que exhibe algunas características diferenciales con relación a otros casos reportados: a) afectación exclusivamente ósea a 10 años de evolución, b) compromiso bilateral y simétrico de distinta magnitud, c) esclerosis cortical endóstica y perióstica, d) signos radiológicos sugestivos de periostitis, d) ausencia de compromiso metafisario, e) ausencia de actividad metabólica de las lesiones en las imágenes de 18F-FDG PET/CT.Conclusión: la presencia de lesiones osteocondensantes bilaterales exclusivamente en huesos largos deben hacer sospechar EEC. La ausencia de compromiso metafisario y de actividad metabólica en 18F-FDG PET/CT ha sido raramente descripta. (AU)

Erdheim - Chester disease (ECD) is a rare disease, characterized by systemic xanthogranulomatous infiltration, with involvement of various organs including bone. ECD is described within the sclerosing bone disorders, which are recognized for presenting increased bone mass and involvement of both long and flat bones. The clinical presentation of ECD is diverse, ranging from an asymptomatic course to multisystemic manifestations. Radiological features are of great importance to establish the diagnosis. We describe here a patient with ECD, with bilateral sclerosis of long bones that presents some differential characteristics in relation to other reported cases: a) exclusively bone involvement at 10 years of evolution, b) bilateral and symmetric involvement of different magnitude, c) endosteal and periosteal cortical sclerosis d) radiological signs suggestive of periostitis, d) absence of metaphyseal involvement, e) absence of metabolic activity of the lesions in 18F-FDG PET/CT.Conclusion: the presence of bilateral osteosclerosis exclusively in long bones should lead to suspect ECD. The absence of metaphyseal involvement and metabolic activity in 18F-FDG PET/CT have been rarely described. (AU)

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In this systematic review, we aimed to evaluate the clinicopathological profile of sclerosing polycystic adenoma (SPA). PubMed, Scopus, EMBASE, Lilacs, Web of Science, and gray literature were searched to access cases of SPA in salivary glands. One hundred and thirty cases of SPA were found across 61 selected articles. SPA affected mainly the parotid gland of adults with a mean age of 44.6 years old, with a slight preference for females. The lesion was usually presented as a painless firm mass with a long period of evolution. Histologically, they are well-delimitated lesions composed of acinar and ductal elements with a variety of cytomorphologic features surrounded by a densely collagenized stroma. PI3K was the most common gene mutation related to SPA. SPA is a benign condition that mainly affects the parotid gland of female patients and it is usually treated by surgical resection with a good prognosis.

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Objective: To investigate the efficacy of 24-h interval multiple-session ethanol sclerotherapy for the treatment of simple renal cysts. Materials and Methods: The study sample included 58 patients (mean age, 65.37 ± 11.95 years). We included 76 simple renal cysts that were treated with percutaneous aspiration with a minimum of two sessions of 95% ethanol sclerotherapy in a 24-h interval between sessions. Patients were evaluated at 1, 3, and 6 months after the intervention for the efficacy of the treatment. Treatment success was defined as a complete regression of a cyst or a > 50% reduction in its volume, with no recurrence of symptoms. Results: The mean preprocedural cyst size was 72.98 ± 25.14 mm, and the mean preprocedural cyst volume was 205.76 ± 244.15 mL. The mean volume of ethanol used in the first sclerotherapy session was 62.76 ± 30.71 mL. The mean fluid accumulation in the cysts at the end of the first 24-h interval was 4.66 ± 7.13 mL. The mean quantity of ethanol used in the second sclerotherapy session was 26.48 ± 22.2 mL. A third sclerotherapy session was required in only 10 (13.2%) of the cysts. The mean follow-up period was 52.84 ± 37.83 months. The rate of complete regression was 97.4% for the whole sample at the end of the follow-up. Conclusion: Ethanol ablation with 24-h intervals is a safe and effective treatment option in the minimally invasive percutaneous treatment of simple renal cysts.

Objetivo: Demonstrar a eficácia da escleroterapia com etanol em sessões múltiplas em intervalos de 24 horas no tratamento de cistos renais simples. Materiais e Métodos: Foram avaliados 76 cistos renais simples de 58 pacientes (média de idade: 65,37 ± 11,95 anos) submetidos a aspiração percutânea e ao menos duas sessões de escleroterapia com etanol 95% num intervalo de 24 horas. Considerou- se sucesso de tratamento a regressão completa ou uma redução > 50% do volume do cisto, sem recorrência dos sintomas. Os pacientes foram reavaliados 1, 3 e 6 meses após o procedimento. Resultados: Antes do procedimento, a média do tamanho dos cistos foi de 72,98 ± 25,14 mm e a média do volume dos cistos foi de 205,76 ± 244,15 mL. A quantidade média de etanol utilizada na primeira sessão de escleroterapia foi de 62,76 ± 30,71 mL. A média de acúmulo de líquido ao final do intervalo de 24 horas foi de 4,66 ± 7,13 mL, sendo utilizada uma média de quantidade de etanol de 26,48 ± 22,2 mL na segunda sessão de escleroterapia. Uma terceira sessão de escleroterapia foi necessária em apenas 10 (13,2%) dos cistos. Na amostra geral, a taxa de regressão completa foi de 97,4%. O tempo médio de seguimento foi de 52,84 ± 37,83 meses. Conclusão: A ablação com etanol em intervalo de 24 horas é uma opção de tratamento segura, eficaz e minimamente invasiva no tratamento percutâneo de cistos renais simples.

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Hypereosinophilic syndrome (HES) is a rare condition characterized by hypereosinophilia in peripheral blood or tissue infiltrate and organ damage. HES has been associated with several diseases, including inflammatory bowel diseases (IBDs), especially ulcerative colitis (UC). In this report, we describe a case of a UC and primary sclerosing cholangitis patient who was diagnosed with HES and severe cardiovascular and neurological injury. During hospitalization, an extensive diagnostic workup was performed and secondary causes of hypereosinophilia were ruled out. The patient was treated with glucocorticoids and full anticoagulation with significant clinical improvement and a marked reduction in the eosinophil count. In the literature, hypereosinophilia in the IBD population has been related to the severity of the disease and worse prognosis. The high index of clinical suspicion and the accurate diagnosis of HES are essential to avoid delay in therapy and prevent complications.

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Abstract Objective: To investigate the efficacy of 24-h interval multiple-session ethanol sclerotherapy for the treatment of simple renal cysts. Materials and Methods: The study sample included 58 patients (mean age, 65.37 ± 11.95 years). We included 76 simple renal cysts that were treated with percutaneous aspiration with a minimum of two sessions of 95% ethanol sclerotherapy in a 24-h interval between sessions. Patients were evaluated at 1, 3, and 6 months after the intervention for the efficacy of the treatment. Treatment success was defined as a complete regression of a cyst or a > 50% reduction in its volume, with no recurrence of symptoms. Results: The mean preprocedural cyst size was 72.98 ± 25.14 mm, and the mean preprocedural cyst volume was 205.76 ± 244.15 mL. The mean volume of ethanol used in the first sclerotherapy session was 62.76 ± 30.71 mL. The mean fluid accumulation in the cysts at the end of the first 24-h interval was 4.66 ± 7.13 mL. The mean quantity of ethanol used in the second sclerotherapy session was 26.48 ± 22.2 mL. A third sclerotherapy session was required in only 10 (13.2%) of the cysts. The mean follow-up period was 52.84 ± 37.83 months. The rate of complete regression was 97.4% for the whole sample at the end of the follow-up. Conclusion: Ethanol ablation with 24-h intervals is a safe and effective treatment option in the minimally invasive percutaneous treatment of simple renal cysts.

Resumo Objetivo: Demonstrar a eficácia da escleroterapia com etanol em sessões múltiplas em intervalos de 24 horas no tratamento de cistos renais simples. Materiais e Métodos: Foram avaliados 76 cistos renais simples de 58 pacientes (média de idade: 65,37 ± 11,95 anos) submetidos a aspiração percutânea e ao menos duas sessões de escleroterapia com etanol 95% num intervalo de 24 horas. Considerou- se sucesso de tratamento a regressão completa ou uma redução > 50% do volume do cisto, sem recorrência dos sintomas. Os pacientes foram reavaliados 1, 3 e 6 meses após o procedimento. Resultados: Antes do procedimento, a média do tamanho dos cistos foi de 72,98 ± 25,14 mm e a média do volume dos cistos foi de 205,76 ± 244,15 mL. A quantidade média de etanol utilizada na primeira sessão de escleroterapia foi de 62,76 ± 30,71 mL. A média de acúmulo de líquido ao final do intervalo de 24 horas foi de 4,66 ± 7,13 mL, sendo utilizada uma média de quantidade de etanol de 26,48 ± 22,2 mL na segunda sessão de escleroterapia. Uma terceira sessão de escleroterapia foi necessária em apenas 10 (13,2%) dos cistos. Na amostra geral, a taxa de regressão completa foi de 97,4%. O tempo médio de seguimento foi de 52,84 ± 37,83 meses. Conclusão: A ablação com etanol em intervalo de 24 horas é uma opção de tratamento segura, eficaz e minimamente invasiva no tratamento percutâneo de cistos renais simples.

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Rhabdomyosarcoma affects mainly pediatric patients and is currently classified into four categories: embryonal, alveolar, pleomorphic, and spindle cell/sclerosing. Recently, a molecular group of spindle cell/sclerosing rhabdomyosarcoma demonstrated new fusion transcripts involving FET-family genes with TFCP2. In this report, we describe a rare case of spindle cell/sclerosing rhabdomyosarcoma in a 19-year-old woman, presenting as a destructive lesion involving the condyle of mandible. Next generation sequencing was performed, revealing a FUS::TFCP2 fusion and deletion of ALK gene. Alectinib therapy was initiated, which resulted in a favorable response for 4 months. However, the patient died due progression of the tumor. To make an accurate diagnosis and ensure appropriate patient management, it is necessary to be aware of this variant and use proper immunohistochemical stains when facing malignant mesenchymal bone lesions, expanding its differential diagnosis.

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Since the spread of the first cases of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection much progress has been made in understanding the disease process. However, we are still facing the complications of coronavirus disease 19 (COVID-19). Multiple sequelae may appear as a consequence of acute infection. This set of entities called post-COVID-19 syndrome involves a wide variety of new, recurrent or persistent symptoms grouped together as a consequence of the acute disease process. One of those that has attracted the most attention is the liver and bile duct involvement called post-COVID-19 cholangiopathy. This is characterized by elevation of liver markers such as alkaline phosphatase, bilirubin and transaminases as well as alterations in the bile ducts in imaging studies. Thus, a narrative review of the cases reported until the end of 2021 was carried out. From the findings found, we concluded that patients who have had COVID-19 or during the process have required hospitalization should remain under follow-up for at least 6 months by a multidisciplinary team.

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La enfermedad inflamatoria intestinal (EII) engloba dos entidades, la enfermedad de Crohn (EC) y la colitis ulcerativa (CU), las cuales son enfermedades inmunomediadas, crónicas y recurrentes que, aunque afectan al intestino, pueden ir acompañadas de manifestaciones extraintestinales de tipo hepatobiliar en el 5 % de los casos. Entre ellas, las más frecuentes son la enfermedad por hígado graso no alcohólico (EHGNA), la colelitiasis, la colangitis esclerosante primaria (CEP), la colangitis relacionada con IgG4, la hepatitis autoinmune (HAI), el síndrome de superposición HAI/CEP, así como la lesión hepática inducida por fármacos (DILI); y otras menos frecuentes como la colangitis biliar primaria (CBP), la trombosis de la vena porta, los abscesos hepáticos, la hepatitis granulomatosa, las hepatitis B y C, la reactivación de la hepatitis B por terapia inmunosupresora, y la amiloidosis. Estas manifestaciones hepatobiliares cursan con una fisiopatología similar o inclusive la misma de la EII, en la que participan el sistema inmune innato y adaptativo, alteración de la microbiota (disbiosis), permeabilidad intestinal, factores de riesgo genéticos (comunes para EII y manifestaciones hepatobiliares) y desencadenantes ambientales. La primera manifestación de un trastorno hepatobiliar es la alteración del perfil de función hepática, por lo que el abordaje diagnóstico se debe dirigir a evaluar y monitorizar las enzimas hepáticas y su asociación a algún patrón diferencial de alteración hepatocelular o colestásico, con el fin de tomar decisiones oportunas con respecto a la suspensión, indicación o modificación de algún medicamento, o cualquier otro abordaje que impida o retrase la evolución de la enfermedad hepatobiliar, y al mismo tiempo garantice el control de la EII, mejorando potencialmente el pronóstico de estos pacientes.

Inflammatory bowel disease (IBD) encompasses two entities, Crohn's disease (CD) and ulcerative colitis (UC), which are chronic, recurrent, immune-mediated inflammatory diseases that, although affect the gut, may be accompanied by extraintestinal hepatobiliary manifestations in 5% of the cases. Among them, the most frequent are non-alcoholic fatty liver disease (NAFLD), cholelithiasis, primary sclerosing cholangitis (PSC), IgG4-related cholangitis, autoimmune hepatitis (AIH), AIH/PSC overlap syndrome, as well as drug-induced liver injury (DILI); and other less frequent such as primary biliary cholangitis (PBC), portal vein thrombosis, liver abscesses, granulomatous hepatitis, hepatitis B and C, reactivation of hepatitis B due to different drugs, and amyloidosis. These hepatobiliary manifestations present with a pathophysiology similar or even the same as that of IBD, where several factors participate, including the innate and adaptive immune system, an interaction with the components of the microbiota, leaky gut, genetic risk factors (common for both IBD and hepatobiliary manifestations) and environmental triggers. The first manifestation of a hepatobiliary disorder is the alteration of the liver profile; therefore, the diagnostic approach should be aimed at evaluating and monitoring liver enzymes and their association with some differential pattern of hepatocellular or cholestatic changes, in order to make appropriate decisions regarding the suspension or modification of any medication, or any other approach that prevents or delays the evolution of hepatobiliary disease, and at the same time guarantees control of IBD, improving the prognosis of these patients.

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ABSTRACT BACKGROUND: Liver transplantation represents the best therapeutic modality in end-stage chronic liver disease, severe acute hepatitis, and selected cases of liver tumors. AIMS: To describe a double retransplant in a male patient diagnosed with Crohn's disease and complicated with primary sclerosing cholangitis, severe portal hypertension, and cholangiocarcinoma diagnosed in the transplanted liver. METHODS: A 48-year-old male patient diagnosed with Crohn's disease 25 years ago, complicated with primary sclerosing cholangitis and severe portal hypertension. He underwent a liver transplantation in 2018 due to secondary biliary cirrhosis. In 2021, a primary sclerosing cholangitis recurrence was diagnosed and a liver retransplantation was indicated. Recipient's hepatectomy was very difficult by reason of complex portal vein thrombosis requiring extensive thromboendovenectomy. Intraoperative ultrasound with liver doppler evaluation was performed. Two suspicious nodules were incidentally diagnosed in the donor's liver and immediately removed for anatomopathological evaluation. RESULTS: After pathological confirmation of carcinoma, probable cholangiocarcinoma, at frozen section, the patient was re-listed as national priority and a new liver transplantation was performed within 24 hours. The patient was discharged after 2 weeks. CONCLUSIONS: The screening for neoplasms in donated organs should be part of our strict daily diagnostic arsenal. Moreover, we argue that, for the benefit of an adequate diagnosis and the feasibility of a safer procedure, the adoption of imaging tests routine for the liver donor is essential, allowing a reduction of the costs and some potential risks of liver transplant procedure.

RESUMO RACIONAL: O transplante de fígado representa a melhor modalidade terapêutica na doença hepática crônica terminal, hepatite aguda grave e casos selecionados de tumores hepáticos. OBJETIVOS: Descrever um retransplante duplo em paciente do sexo masculino, diagnosticado com doença de Crohn e complicado com colangite esclerosante primária, hipertensão portal grave e colangiocarcinoma diagnosticado no fígado transplantado. MÉTODOS: Paciente do sexo masculino, 48 anos, diagnosticado com doença de Crohn há 25 anos e complicado com colangite esclerosante primária e hipertensão portal grave. Foi submetido a um transplante de fígado em 2018 devido a cirrose biliar secundária. Em 2021, foi diagnosticada recidiva de colangite esclerosante primária e indicado retransplante hepático. A hepatectomia do receptor foi de alta complexidade devido à trombose complexa da veia porta, exigindo extensa tromboendovenectomia. Foi realizada ultrassonografia intraoperatória com doppler hepático. Dois nódulos suspeitos foram diagnosticados incidentalmente no fígado do doador e imediatamente removidos para avaliação anatomopatológica. RESULTADOS: Após confirmação patológica de carcinoma, provável colangiocarcinoma, pela congelação, o paciente foi relistado como prioridade nacional, e novo transplante hepático foi realizado em 24 horas. O paciente teve alta após 2 semanas. CONCLUSÕES: O rastreamento de neoplasias em órgãos doados deve fazer parte de nosso estrito arsenal diagnóstico diário. Além disso, defendemos que, em benefício de um diagnóstico correto e da viabilidade de um procedimento mais seguro, a adoção de uma rotina de exames de imagem é essencial em doadores hepáticos, permitindo a redução dos custos e alguns riscos potenciais do procedimento de transplante hepático.

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ABSTRACT BACKGROUND: The prevalence of primary sclerosing cholangitis (PSC) in the general population has not yet been clearly established. The management of PSC should focus on delaying the progression of the disease and restraining its complications. The only curative therapy for the disease remains liver transplantation (LT). PSC is currently the fifth most common indication for LT and corresponds to 5% of all LT indications in adults. AIMS: Our objective is to evaluate the indications and outcomes of PSC patients undergoing LT in three liver transplantation centers in southern Brazil - Hospital Santa Isabel in Blumenau, Santa Catarina state, and Hospital das Clínicas and Hospital Nossa Senhora das Graças, in Curitiba, Parana state). METHODS: This is a longitudinal observational study of patients with PSC who underwent LT in three major Brazilian medical centers. Electronic medical records and study protocols of all patients subjected to LT from January 2011 to December 2021 were retrospectively reviewed. RESULTS: Of the 1,362 transplants performed in the three medical centers, 37 were due to PSC. Recurrence of PSC occurred in three patients (8.1%) in 3.0±2.4 years (range, 1-4 years). The 1-year and 5-year survival rates after the first LT were 83.8 and 80.6%, respectively. The 1-year and 5-year graft survival rates were, respectively, 83.8 and 74.8%. CONCLUSIONS: Our experience with LT in patients with PSC demonstrated good patient and graft survival results. Most deaths were due to common factors in patients undergoing LT.

RESUMO RACIONAL: A prevalência de colangite esclerosante primária (CEP) na população em geral ainda não foi claramente estabelecida. O manejo da CEP deve se concentrar em retardar a progressão da doença e gerenciar suas complicações. A única terapia curativa para a doença continua sendo o transplante hepático (TH). A CEP é atualmente a 5ª indicação mais comum de TH e corresponde a 5% de todas as indicações de TH em adultos OBJETIVOS: O nosso objetivo é avaliar as indicações e os resultados do transplante de fígado em pacientes com CEP submetidos a TH em três centros de transplante de fígado no sul do Brasil (Hospital Santa Isabel, Blumenau, Santa Catarina; Hospital das Clínicas, Curitiba, Paraná; e Hospital Nossa Senhora das Graças, Curitiba, Paraná). MÉTODOS: Este é um estudo observacional longitudinal de pacientes com colangite esclerosante primária que foram submetidos a transplante hepático em três grandes centros médicos brasileiros. Os prontuários eletrônicos de todos os pacientes submetidos a TH de Janeiro de 2011 a Dezembro de 2021, foram avaliados retrospectivamente. RESULTADOS: De um total de 1.362 transplantes realizados nos três centros médicos, 37 eram devidos à CEP. A recorrência de CEP ocorreu em 3 pacientes (8,1%) em 3±2,4 anos (intervalo, 1-4 anos). A taxa de sobrevida de 1 ano e 5 anos após o 1° TH foi respectivamente de 83,8 e 80,6%. As taxas de sobrevida dos enxertos em 1 ano e 5 anos foram, respectivamente, 83,8 e 74,8%. CONCLUSÕES: A nossa experiência com TH em pacientes com CEP demonstrou bons resultados de sobrevida dos pacientes e dos enxertos. A maioria dos óbitos ocorreu devido a fatores comuns em pacientes submetidos a TH.

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Las enfermedades relacionadas con IgG4 (ER-IgG4) son entidades fibroinflamatorias e inmunomediadas, caracterizadas por la afección multiorgánica, con la formación de pseudotumores que provocan lesión tisular y daño orgánico subsecuente. Se describe el caso de un paciente de 43 años que presentó sialoadenitis esclerosante y cumplió todos los criterios diagnósticos de enfermedad relacionada con IgG4.

IgG4-related diseases (IgG4-RD) are fibroinflammatory immune-mediated entities characterized by multiorgan involvement with the development of pseudotumors that cause tissue injury and subsequent organ damage. We describe the case of a 43-year-old man who presented sclerosing sialadenitis and fulfilled the diagnostic criteria for IgG4-related disease.

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Inflammatory bowel diseases (IBD) are associated with various hepatobiliary disorders. They can occur at any moment in the course of the disease or associated with the treatment. The prevalence of liver dysfunction can reach up to 50% in different studies. Nonalcoholic fatty liver disease is considered the most common hepatobiliary complication in IBD, while primary sclerosing cholangitis is the most specific. Management of hepatic manifestations in IBD involves a multidisciplinary approach that includes a high index of suspicion and joint management with hepatologists. The medical confrontation with abnormal liver tests must include an exhaustive study to determine if these patterns can be related to IBD, associated diseases or to the therapies used.