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The Publisher regrets that this article is an accidental duplication of an article that has already been published, https://doi.org/10.1016/j.hpb.2024.04.011. The duplicate article has therefore been withdrawn. The full Elsevier Policy on Article Withdrawal can be found at https://www.elsevier.com/about/policies/article-withdrawal.
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BACKGROUND: Intrahepatic cholangiocarcinoma (iCCA) is the second most common hepatic malignancy and has a poor prognosis. Surgical resection is the standard of care for patients with resectable disease, representing 30-40% of cases. Increasingly, neoadjuvant systemic therapy is being utilized in patients due to high-risk anatomic or biologic considerations. However, data on the clinical effect of this approach are limited. We performed a cohort study to evaluate the effect of neoadjuvant therapy in patients with oncologically high-risk iCCA. METHODS: iCCA patients (n = 181) between the years 2014-2020 were reviewed for clinical, histopathologic, treatment, and outcome-related data. Tumor regression grade was scored per CAP criteria for gastrointestinal carcinomas. RESULTS: 47 iCCA patients received neoadjuvant therapy and 72 did not. Neoadjuvant treatment led to objective response and tumor regression by CAP score. After adjustment for age, clinical stage, and tumor size, the outcomes of patients who had neoadjuvant therapy followed by surgery were not significantly different from those patients who had surgery first. DISCUSSION: In conclusion, neoadjuvant therapy in iCCA facilitated surgical care. The progression-free and overall survival for surgical patients with and without neoadjuvant therapy were not significantly different suggesting this approach needs further exploration as an effective treatment paradigm.
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Neoplasias dos Ductos Biliares , Colangiocarcinoma , Terapia Neoadjuvante , Humanos , Colangiocarcinoma/terapia , Colangiocarcinoma/mortalidade , Colangiocarcinoma/patologia , Colangiocarcinoma/cirurgia , Neoplasias dos Ductos Biliares/terapia , Neoplasias dos Ductos Biliares/patologia , Neoplasias dos Ductos Biliares/mortalidade , Neoplasias dos Ductos Biliares/cirurgia , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Estudos Retrospectivos , Hepatectomia , Resultado do TratamentoRESUMO
The mismatch repair system is a major pathway that functions in the maintenance of genomic integrity. It is involved in mitotic and meiotic recombination, apoptosis, immunoglobulin gene rearrangement, somatic hypermutation, and other processes. Deficiencies in mismatch repair give rise to hypermutability and the phenomenon called microsatellite instability. Detection of deficient mismatch repair function or microsatellite instability is used diagnostically, predictively, and prognostically. Specifically, deficient mismatch repair function is used for screening of Lynch syndrome, determining patients who are likely to respond to immune checkpoint inhibition, and to contributes to an understanding of which cancer patients may pursue a more aggressive clinical course. Microsatellite instability can be evaluated directly by polymerase chain reaction (PCR) or indirectly by assessment of mismatch repair protein expression using immunohistochemistry (IHC), and mismatch repair function using next-generation sequencing assays which evaluates homopolymer indels. In this article, we provide a concise practical review on mismatch repair deficiency (MMR-d)/microsatellite instability (MSI), focusing on clinical testing, different testing methods, interpretation of findings, the predictive, and prognostic utility of MSI.
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Neoplasias Colorretais , Síndromes Neoplásicas Hereditárias , Neoplasias Encefálicas , Neoplasias Colorretais/diagnóstico , Neoplasias Colorretais/genética , Reparo de Erro de Pareamento de DNA/genética , Humanos , Instabilidade de MicrossatélitesRESUMO
Fusion genes have been identified in a wide array of human neoplasms including hematologic and solid tumors, including gastrointestinal tract neoplasia. A fusion gene is the product of parts of two genes that are joined together following a deletion, translocation, or chromosomal inversion. Together with single nucleotide variants, insertions, deletions, and amplification, fusion genes represent one of the key genomic mechanisms for tumor development. Detecting fusions in the clinic is accomplished by a variety of techniques including break-apart fluorescence in situ hybridization, reverse transcription-polymerase chain reaction, and next-generation sequencing. Some recurrent gene fusions have been successfully targeted by small molecule or monoclonal antibody therapies (ie targeted therapies), while others are used as biomarkers for diagnostic and prognostic purposes. The purpose of this review article is to discuss the clinical utility of detection of gene fusions in carcinomas and neoplasms arising primarily in the digestive system.
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Neoplasias Gastrointestinais , Fusão Gênica , Neoplasias Gastrointestinais/genética , Genômica , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Hibridização in Situ Fluorescente/métodos , Proteínas de Fusão Oncogênica/genéticaRESUMO
BACKGROUND: Syphilis infections are increasing globally. Lower gastrointestinal syphilis (LGIS) is a rare manifestation of early syphilis transmitted through anal sexual contact. Misdiagnosis of LGIS as inflammatory bowel disease may result from clinician underawareness. METHODS: We searched the literature for articles describing cases of LGIS, and identified additional cases diagnosed within our institution. Data were extracted from the articles and medical records and analyzed to provide a summative account. RESULTS: Fifty-four cases of LGIS were identified in 39 articles published between 1958 and 2020. Eight additional cases were diagnosed at our institution between 2011 and 2020, totaling 62 cases. All cases were described in men and transwomen aged 15-73 years. Fifty (93%) individuals reported having sex with men. In 26 cases (52%), the individuals were human immunodeficiency virus (HIV) coinfected. LGIS presented most commonly with hematochezia (67%) and anal pain (46%). The most common physical examination findings were rectal mass (38%), lymphadenopathy (31%), and rash (26%). Nontreponemal titers ranged from 1:2 to 1:1024. Of the 52 cases in which endoscopy was reported, 22 (42%) showed anorectal mass and 18 (35%) showed anorectal ulcer. In 44 cases (75%), histopathology revealed a chronic inflammatory infiltrate with a prominent lymphocyte component (45%) and/or plasma cells (36%). Seventy-eight percent of specimens to which a tissue stain was applied were positive for spirochetes. CONCLUSIONS: LGIS should be suspected in men and transwomen presenting with a lower gastrointestinal symptom or mucosal abnormality. A sexual history must be elicited and guide testing. Misdiagnosis can delay treatment and threatens patient and public health.
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The etiology and incidence of cirrhosis in adults has been well studied, however there is scant data in younger patients. The aim of this study was to determine causes of cirrhosis in patients ≤40â¯years old. In this multi-institutional retrospective study, pathology databases were searched for patients ≤40-year-old with a diagnosis of cirrhosis from 1995 to 2018. Clinical charts and pathology reports were reviewed to identify etiologies of cirrhosis in each case. The patients were divided into 4 age groups (<1, 1-â¯<â¯5, 5-â¯<â¯18, and 18-40â¯years old) for further analysis. We identified 594 patients (264 female, 330 male). Among <18-year-old patients, congenital cholestatic diseases and developmental disorders were the most common causes of cirrhosis (50.2%, 172/342). Metabolic and genetic diseases were also seen more commonly in this age group (16.6%, 57/342). In contrast, viral hepatitides were the most common cause of cirrhosis in 18-40-year-old patients (39.6%, 100/252) followed by autoimmune and fatty liver disease (22.2%, 56/252 and 15.07%, 38/252, respectively). Cryptogenic cirrhosis (overall 7.2%, 42/594) was seen in 3% (4/133), 1.4% (1/69), 10.7% (15/140) and 8.7% (22/252) of patients aged <1, 1-â¯<â¯5, 5-â¯<â¯18, and 18-40â¯years, respectively. Developmental and metabolic disorders are the most common causes of cirrhosis in children (<18), while viral hepatitides are leading causes in adolescents and young adults (18-40) similar to adults. The incidence of cryptogenic cirrhosis also varies depending on the age, being lowest in 1-â¯<â¯5 year and highest in 5-â¯<â¯18 year age group children.
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Cirrose Hepática/epidemiologia , Adolescente , Adulto , Distribuição por Idade , Criança , Pré-Escolar , Feminino , Humanos , Incidência , Lactente , Cirrose Hepática/diagnóstico , Masculino , Estudos Retrospectivos , Fatores de Risco , Estados Unidos/epidemiologia , Adulto JovemRESUMO
Giant cell myocarditis (GCM) is a rare and commonly fatal form of fulminant myocarditis. During the acute phase, while immunosuppressive therapy is initiated, venoarterial extracorporeal membrane oxygenation (VA-ECMO) support is commonly used as a bridge to heart transplantation or recovery. Until recently, conventional transesophageal echocardiography and transthoracic echocardiography were the tools available for hemodynamic assessment of patients on this form of mechanical circulatory support. Nevertheless, both techniques have their limitations. We present a case of a 54-year-old man diagnosed with GCM requiring VA-ECMO support that was monitored under a novel miniaturized transesophageal echocardiography (hTEE) probe recently approved for 72 hours of continuous hemodynamic monitoring. Our case highlights the value of this novel, flexible, and disposable device for hemodynamic monitoring, accurate therapy guidance, and potential VA-ECMO weaning process of patients with this form of severe myocarditis.