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1.
Neuropathology ; 2024 Apr 06.
Artigo em Inglês | MEDLINE | ID: mdl-38581197

RESUMO

In 2016, the World Health Organization (WHO) eliminated "oligoastrocytoma" from the classification of central nervous system (CNS) tumors, in favor of an integrated histologic and molecular diagnosis. Consistent with the 2016 classification, in the 2021 classification, oligodendrogliomas are defined by mutations in isocitrate dehydrogenase (IDH) with concurrent 1p19q codeletion, while astrocytomas are IDH mutant tumors, usually with ATRX loss. In 2007, a 24-year-old man presented with a brain tumor histologically described as astrocytoma, but with molecular studies consistent with an oligodendroglioma, IDH mutant and 1p19q-codeleted. Years later, at resection, pathology revealed an astrocytoma, with variable ATRX expression and mutations of IDH, ATRX, TP53, and TERT by DNA sequencing. Fluorescence in situ hybridization studies confirmed 1p19q codeletion in sections of the tumor shown to histologically retain ATRX expression. Separately, in 2017, a 36-year-old woman presented with a frontal brain tumor with pathology consistent with an oligodendroglioma, IDH mutant and 1p19q-codeleted. Two years later, pathology revealed an astrocytoma, IDH1 mutant, with ATRX loss. These two cases likely represent the rare occurrence of dual-genotype IDH mutant infiltrating glioma. Nine cases of dual-genotype IDH mutant glioma were previously reported in the literature. We present two cases in which this distinct molecular phenotype is present in a tumor in the same location with surgeries at two points in time, both with 1p19q codeletion and ATRX loss at the time of resection. Whether this represents a true "collision tumor" or genetic switching over time is not known, but the co-occurrence of these hybrid mutations supports a diagnosis of dual-genotype IDH mutant glioma.

2.
J Neurosurg Case Lessons ; 7(11)2024 Mar 11.
Artigo em Inglês | MEDLINE | ID: mdl-38467049

RESUMO

BACKGROUND: The presence of intracranial collision tumors, histologically distinct tumors occurring in anatomical proximity, is quite rare. Herein, the authors describe the sentinel case of a contiguous collision tumor combination consisting of glioblastoma multiforme and intraventricular subependymoma. OBSERVATIONS: A 67-year-old male presented with several months of progressive fatigue superimposed on more recently noted word-finding difficulty, slight left-sided weakness, and episodic confusion. He was found to have a large right frontal mass abutting the right lateral ventricle with an additional nodular focus of enhancement within the right frontal horn. The patient underwent an awake right frontal craniotomy for gross-total resection of the tumor, noted to be of two distinct histological identities. LESSONS: Although exceptionally rare, primary glial neoplasms of various histologies can be encountered simultaneously during resection, as in this case of co-occurring glioblastoma of the right frontal lobe and right frontal horn intraventricular subependymoma. Close attention to tumoral locations and the gross appearance of specimens during resection can prime the operative neurosurgeon for success in contributing to accurate diagnoses through sending separate pathological specimens for histological analysis when qualitatively different tissue is suspected.

4.
Endosc Int Open ; 12(1): E43-E49, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38188922

RESUMO

Background and study aims Gastroesophageal reflux disease (GERD) following peroral endoscopic myotomy (POEM) occurs in 40% to 60% of patients. There are limited data evaluating antireflux surgery or transoral incisionless fundoplication (TIF) for refractory post-POEM GERD. Patients and methods In a single-center prospective cohort study, consecutive patients with medically refractory post-POEM regurgitation and/or GERD treated with TIF or combined laparoscopic hernia repair and TIF (cTIF) were evaluated. Baseline evaluation: GERD-Health Related Quality of Life (GERD-HQRL) and Reflux Symptom Questionnaire 7-day recall (RESQ-7) questionnaires, EGD, high-resolution manometry (HRM), 48-hour pH test off proton pump inhibitors (PPIs) and impedance planimetry of the esophagogastric junction (EGJ) to calculate the diameter distensibility index (EGJ-DI). A PPI was taken twice daily for 2 weeks after TIF and restarted later if required. Patients returned 9 to 12 months after treatment when all preoperative studies were repeated. Quality of life, pH studies and EGJ metrics before and after antireflux surgery were compared. Results Seventeen patients underwent TIF (n=2, 12%) or cTIF (n=15, 88%) a mean 25±15 months after POEM. At follow-up a mean of 9±1 months after TIF/cTIF, patients required less frequent daily PPIs (n=0.001), were more satisfied (P=0.008), had improved GERD-HQRL (P=0.001), less intensity and frequency of GERD (P=0.001) and fewer reflux episodes (P=0.04) by pH testing. There was no change in EGJ-DI, EGJ diameter, integrated relaxation pressure, % total time pH <4, or DeMeester score. Conclusions TIF and cTIF for difficult-to-control post-POEM GERD appear safe, decrease PPI use and reflux episodes, and improve QOL without significant change in IRP, EGJ compliance, diameter or esophageal acid exposure time.

5.
Gastrointest Endosc ; 99(2): 177-185, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37500019

RESUMO

BACKGROUND AND AIMS: Video analysis has emerged as a potential strategy for performance assessment and improvement. We aimed to develop a video-based skill assessment tool for peroral endoscopic myotomy (POEM). METHODS: POEM was deconstructed into basic procedural components through video analysis by an expert panel. A modified Delphi approach and 2 validation exercises were conducted to refine the POEM assessment tool (POEMAT). Twelve assessors used the final POEMAT version to grade 10 videos. Fully crossed generalizability (G) studies investigated the contributions of assessors, endoscopists' performance, and technical elements to reliability. G coefficients below .5 were considered unreliable, between .5 and .7 as modestly reliable, and above .7 as indicative of satisfactory reliability. RESULTS: After task deconstruction, discussions, and the modified Delphi process, the final POEMAT comprised 9 technical elements. G analysis showed low variance for endoscopist performance (.8%-24.9%) and high interrater variability (range, 63.2%-90.1%). The G score was moderately reliable (≥.60) for "submucosal tunneling" and "myotomy" and satisfactorily reliable (≥.70) for "active hemostasis" and "mucosal closure." CONCLUSIONS: We developed and established initial content and response process validity evidence for the POEMAT. Future steps include appraisal of the tool using a wider range of POEM videos to establish and improve the discriminative validity of this tool.


Assuntos
Procedimentos Cirúrgicos do Sistema Digestório , Acalasia Esofágica , Miotomia , Cirurgia Endoscópica por Orifício Natural , Humanos , Acalasia Esofágica/cirurgia , Reprodutibilidade dos Testes , Resultado do Tratamento , Esfíncter Esofágico Inferior
6.
Dig Endosc ; 2023 Oct 27.
Artigo em Inglês | MEDLINE | ID: mdl-37886793

RESUMO

OBJECTIVES: Endoscopic ultrasound (EUS)-guided injection of cyanoacrylate (CYA) for primary prophylaxis (PP) of gastric varices (GV) is controversial. This study evaluates the safety and efficacy of this intervention. METHODS: Patients treated for PP of GV bleeding by EUS injection of CYA with or without coils were identified. Endoscopic techniques, outcomes, and adverse events (AEs) were reviewed and compared with a group treated for secondary prophylaxis (SP). Patients were followed until: (i) loss to follow-up; (ii) GV bleeding; (iii) interventional radiology or surgery decompression; (iv) liver transplant; or (v) death or comfort care. RESULTS: One hundred and nineteen patients (61 men; mean 59 ± 12 years) underwent EUS for PP (n = 24) or SP (n = 95). The PP group was treated with CYA alone (n = 18) or with coils (n = 4). Eight (33%) mild (n = 6) or moderate (n = 2) AEs and no index GV bleeding occurred during a mean of 6.1 ± 5.9 months follow-up. Repeat EUS in 22 (92%) PP patients showed 7 (32%) residual GVs, which were retreated with CYA alone (n = 6) or with coils (n = 1). Two (29%) mild (n = 1) or moderate (n = 1) AEs occurred after repeat EUS and 1/22 (5%) index GV bleed occurred during a mean 23 ± 25 months follow-up. Compared to the SP group, the PP group had lower Model for End-stage Liver Disease (MELD) score (P = 0.03), fewer GV stigmata (P < 0.001), required less CYA (P = 0.019) during index EUS, and had a longer time between index and surveillance EUS (P = 0.014). The incidence of AEs and GV bleeding between the two groups were similar. CONCLUSION: Posttreatment GV bleeding and AEs are similar following EUS-guided primary and secondary GV prophylaxis.

7.
HPB (Oxford) ; 25(12): 1587-1594, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37749004

RESUMO

BACKGROUND/OBJECTIVES: Pancreatic serous cystic neoplasms (SCN) present a diagnostic challenge given their increasing frequency of detection and benign nature yet relatively high rate of misdiagnosis. Here, imaging and analyses associated with EUS-guided fine-needle aspiration (EUS-FNA) are evaluated for their ability to provide a correct preoperative diagnosis of SCN. METHODS: A surgical cohort with confirmed pathological diagnosis of SCN (n = 62) and a surveillance cohort with likely SCN (n = 31) were assessed for imaging (CT/MRI/EUS) and EUS-FNA-based analyses (cytology/DNA analysis for Von Hippel-Lindau [VHL] gene alterations/biomarkers). RESULTS: In the surgical cohort, CT/MRI and EUS respectively predicted SCN in 4 of 58(7%) and 19 of 62(31%). Cyst fluid cytology and VHL alterations predicted SCN in 1 of 51(2%) and 5 of 21(24%), respectively. High specificity cyst fluid biomarkers (vascular endothelial growth factor [VEGF]/glucose/carcinoembryonic antigen [CEA]/amylase) correctly identified SCN in 25 of 27(93%). In the surveillance cohort, cyst fluid biomarkers predicted SCN in 12 of 12(100%) while VHL alterations identified SCN 3 of 10(30%). CONCLUSION: High specificity cyst fluid biomarkers provided the most sensitive means of diagnosing SCN preoperatively. To obtain a preoperative diagnosis of SCN at the highest level of certainty, a multidisciplinary approach should be taken to inform appropriate SCN management.


Assuntos
Cisto Pancreático , Neoplasias Pancreáticas , Humanos , Biópsia por Agulha Fina , Fator A de Crescimento do Endotélio Vascular , Antígeno Carcinoembrionário , Cisto Pancreático/diagnóstico por imagem , Cisto Pancreático/genética , Endossonografia , Neoplasias Pancreáticas/diagnóstico por imagem , Neoplasias Pancreáticas/genética , Aspiração por Agulha Fina Guiada por Ultrassom Endoscópico
8.
J Neurosurg Case Lessons ; 6(1)2023 Jul 03.
Artigo em Inglês | MEDLINE | ID: mdl-37392764

RESUMO

BACKGROUND: Cerebral meningiomas and brain abscesses are common independently, but intrameningioma abscesses rarely occur, with only 15 cases in the literature. These abscesses most frequently develop in patients with a known source of bacteremia; only one case of intrameningioma abscess without a known source of infection has been reported previously. OBSERVATIONS: This is the second reported case of an intrameningioma abscess without a clear source of infection, occurring in a 70-year-old female with a history of transsphenoidal craniopharyngioma resection and radiation many years prior. She presented with severe fatigue and altered mental status initially ascribed to adrenal insufficiency, and magnetic resonance imaging showed a new heterogeneously enhancing left temporal mass with surrounding edema. After urgent tumor resection, pathology demonstrated a World Health Organization grade II meningioma (radiation induced). After a course of steroids and intravenous nafcillin, the patient recovered without neurological deficits. LESSONS: The natural history of intrameningioma abscesses is not fully understood. These uncommon lesions can form secondary to hematogenous spread facilitated by meningiomas' robust vascularization, typically in patients with bacteremia. Even when no significant source of infection is identified, the differential diagnosis of intrameningioma abscess should be considered because this pathology can be rapidly progressive, even fatal, but is treatable if recognized promptly.

9.
Childs Nerv Syst ; 39(12): 3627-3631, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37458769

RESUMO

Microbial seeding of a cerebral cavernous malformation is an extremely rare occurrence with only 3 cases reported in the literature thus far. Campylobacter fetus is an opportunistic pathogen that rarely causes neurological infection with only 3 cases of C. fetus cerebral abscesses and 38 cases of C. fetus meningitis reported in the literature. There have been no cases of cerebral cavernous malformation seeding by C. fetus reported to date. We report the first case of cerebral cavernous malformation seeding by C. fetus, a case occurring in a previously healthy 16-year-old female who presented with suspected left cerebellar cavernous malformation with subacute hemorrhage. She underwent a suboccipital craniectomy for the resection of the cavernous malformation with additional intraoperative findings suggestive of cerebral abscess. Following positive blood and CSF cultures and surgical pathology results, the patient was diagnosed with C. fetus meningoencephalitis with co-infected left cerebellar cavernous malformation. This is the fourth reported case of microbial seeding of a cerebral cavernous malformation, and to our knowledge, the first case of a C. fetus-infected cavernous malformation. Compared to previous reports, the clinical events of this case strongly support the presence of a preexisting lesion that was secondarily seeded versus de novo formation as a result of prior infection.


Assuntos
Abscesso Encefálico , Hemangioma Cavernoso do Sistema Nervoso Central , Feminino , Humanos , Adolescente , Hemangioma Cavernoso do Sistema Nervoso Central/complicações , Hemangioma Cavernoso do Sistema Nervoso Central/diagnóstico por imagem , Hemangioma Cavernoso do Sistema Nervoso Central/cirurgia , Campylobacter fetus , Abscesso Encefálico/complicações , Abscesso Encefálico/diagnóstico por imagem , Abscesso Encefálico/cirurgia , Craniotomia
10.
Neurooncol Adv ; 5(1): vdad076, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37476329

RESUMO

Background: Central nervous system (CNS) cancer is the 10th leading cause of cancer-associated deaths for adults, but the leading cause in pediatric patients and young adults. The variety and complexity of histologic subtypes can lead to diagnostic errors. DNA methylation is an epigenetic modification that provides a tumor type-specific signature that can be used for diagnosis. Methods: We performed a prospective study using DNA methylation analysis as a primary diagnostic method for 1921 brain tumors. All tumors received a pathology diagnosis and profiling by whole genome DNA methylation, followed by next-generation DNA and RNA sequencing. Results were stratified by concordance between DNA methylation and histopathology, establishing diagnostic utility. Results: Of the 1602 cases with a World Health Organization histologic diagnosis, DNA methylation identified a diagnostic mismatch in 225 cases (14%), 78 cases (5%) did not classify with any class, and in an additional 110 (7%) cases DNA methylation confirmed the diagnosis and provided prognostic information. Of 319 cases carrying 195 different descriptive histologic diagnoses, DNA methylation provided a definitive diagnosis in 273 (86%) cases, separated them into 55 methylation classes, and changed the grading in 58 (18%) cases. Conclusions: DNA methylation analysis is a robust method to diagnose primary CNS tumors, improving diagnostic accuracy, decreasing diagnostic errors and inconclusive diagnoses, and providing prognostic subclassification. This study provides a framework for inclusion of DNA methylation profiling as a primary molecular diagnostic test into professional guidelines for CNS tumors. The benefits include increased diagnostic accuracy, improved patient management, and refinements in clinical trial design.

11.
Ann Surg ; 278(4): e789-e797, 2023 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-37212422

RESUMO

OBJECTIVE: We report the development and validation of a combined DNA/RNA next-generation sequencing (NGS) platform to improve the evaluation of pancreatic cysts. BACKGROUND AND AIMS: Despite a multidisciplinary approach, pancreatic cyst classification, such as a cystic precursor neoplasm, and the detection of high-grade dysplasia and early adenocarcinoma (advanced neoplasia) can be challenging. NGS of preoperative pancreatic cyst fluid improves the clinical evaluation of pancreatic cysts, but the recent identification of novel genomic alterations necessitates the creation of a comprehensive panel and the development of a genomic classifier to integrate the complex molecular results. METHODS: An updated and unique 74-gene DNA/RNA-targeted NGS panel (PancreaSeq Genomic Classifier) was created to evaluate 5 classes of genomic alterations to include gene mutations (e.g., KRAS, GNAS, etc.), gene fusions and gene expression. Further, CEA mRNA ( CEACAM5 ) was integrated into the assay using RT-qPCR. Separate multi-institutional cohorts for training (n=108) and validation (n=77) were tested, and diagnostic performance was compared to clinical, imaging, cytopathologic, and guideline data. RESULTS: Upon creation of a genomic classifier system, PancreaSeq GC yielded a 95% sensitivity and 100% specificity for a cystic precursor neoplasm, and the sensitivity and specificity for advanced neoplasia were 82% and 100%, respectively. Associated symptoms, cyst size, duct dilatation, a mural nodule, increasing cyst size, and malignant cytopathology had lower sensitivities (41-59%) and lower specificities (56-96%) for advanced neoplasia. This test also increased the sensitivity of current pancreatic cyst guidelines (IAP/Fukuoka and AGA) by >10% and maintained their inherent specificity. CONCLUSIONS: PancreaSeq GC was not only accurate in predicting pancreatic cyst type and advanced neoplasia but also improved the sensitivity of current pancreatic cyst guidelines.


Assuntos
Cisto Pancreático , Neoplasias Pancreáticas , Humanos , RNA , Detecção Precoce de Câncer , Cisto Pancreático/diagnóstico , Cisto Pancreático/genética , Cisto Pancreático/patologia , Neoplasias Pancreáticas/diagnóstico , Neoplasias Pancreáticas/genética , Neoplasias Pancreáticas/metabolismo , DNA , Sequenciamento de Nucleotídeos em Larga Escala , Neoplasias Pancreáticas
12.
Gastrointest Endosc ; 98(3): 400-404, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37004817

RESUMO

BACKGROUND AND AIMS: We have endoscopically encountered a zone of transitional mucosa between the colonic and ileal mucosa located in a 3- to 10-mm-wide ring around the ileocecal valve (ICV) orifice. We aimed to describe the features of the ICV transitional zone mucosa. METHODS: We used videos and photographs from normal ICVs and biopsy samples from normal colonic mucosa, transitional zone mucosa, and normal ileal mucosa to characterize the endoscopic and histologic features of the ICV transitional zone mucosa. RESULTS: The ICV transitional zone is identifiable on every ICV without a circumferential adenoma or inflammation that obliterates the zone. The zone is characterized endoscopically by an absence of villi, which distinguishes it from the ileal mucosa, but the pits are more tubular and with more prominent blood vessels compared with normal colonic mucosa. Histologically, the villi of the transitional zone are blunted, and the amount of lymphoid tissue is intermediate between the colonic mucosa and ileal mucosa. CONCLUSIONS: This is the first description of the normal transitional zone of mucosa on the ICV. This zone has unique endoscopic features that should be recognized by colonoscopists and that can potentially create difficulty in identifying the margins of adenomas located on the ICV.


Assuntos
Adenoma , Valva Ileocecal , Humanos , Íleo/patologia , Colo/patologia , Ceco , Mucosa Intestinal/patologia , Adenoma/patologia
13.
Diagn Cytopathol ; 51(7): E214-E218, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-36999293

RESUMO

Follicular dendritic cell sarcoma (FDCS) is a rare malignant neoplasm, postulated to arise from follicular dendritic cells, with approximately 343 reported cases. Less than 100 cases of FDCS were in the gastrointestinal tract, with only four cases described in the stomach, none of them diagnosed on fine needle aspiration (FNA) cytology. We report here the first case of FDCS of the stomach diagnosed on FNA. Our patient is a 31-year-old male who presented with several years history of intermittent abdominal pain prompting occasional emergency-room visits. Imaging showed a 10.6 cm mass arising from the stomach, concerning for gastrointestinal stromal tumor. FNA cytology was performed using five passes with a 22-gauge needle. The smears were moderately cellular consisting of sheets and large, loosely cohesive clusters of ovoid to spindle cells with indistinct cytoplasmic borders and abundant cytoplasm, peppered with numerous small mature lymphocytes. The nuclei of the tumor cells were oval with finely granular chromatin with frequent nuclear grooves, pseudoinclusions, and easily recognizable mitotic figures. The tumor cells were positive for FDCS markers (CD21, CD23, and CD35).


Assuntos
Sarcoma de Células Dendríticas Foliculares , Tumores do Estroma Gastrointestinal , Masculino , Humanos , Adulto , Sarcoma de Células Dendríticas Foliculares/diagnóstico , Sarcoma de Células Dendríticas Foliculares/patologia , Biópsia por Agulha Fina , Tumores do Estroma Gastrointestinal/diagnóstico , Tumores do Estroma Gastrointestinal/patologia , Células Dendríticas Foliculares/patologia , Estômago/patologia
14.
Gastrointest Endosc ; 97(4): 655-663.e2, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36509112

RESUMO

BACKGROUND AND AIMS: Chronic narcotic use may cause opioid-induced esophageal dysfunction and associated type III achalasia, hypercontractile esophagus (HE), diffuse esophageal spasm (DES), and esophagogastric junction outflow obstruction (EGJOO). The frequency of opioid use and its impact on peroral endoscopic myotomy (POEM) in these patients is unknown. METHODS: Consecutive patients between April 2017 and September 2021 who underwent POEM for type III achalasia, EGJOO, DES, or HE with ≥6 months follow-up were identified. Baseline evaluation was done with EGD, esophageal high-resolution manometry (HRM), and functional lumen impedance planimetry (FLIP) of the esophagogastric junction (EGJ). Eckardt scores (ESs) were calculated at baseline and follow-up at 6 to 12 months after POEM for opioid users and nonusers. Clinical response was defined as ES ≤3, EGJ distensibility index >2.8 mm2/mm Hg, maximum EGJ diameter >14 mm, and integrated relaxation pressure (IRP) <15 mm Hg. Opioid use before baseline HRM was assessed. RESULTS: One hundred twenty-six patients underwent POEM, and 89 had ≥6 months of follow-up. Daily opioid use was present in 18 of 89 patients (20%). Baseline demographics, FLIP metrics, IRP, distribution of motility disorders, and POEM characteristics were similar between both groups. At 6 to 12 months after POEM, clinical response and frequency of GERD, esophagitis, and proton pump inhibitor use were similar between opioid users and nonusers. Heartburn was more frequent in the opioid group (82.4% vs 38.6%, P = .002). CONCLUSIONS: In this single-center study of 89 patients with type III achalasia, EGJOO, DES, or HE treated with POEM, daily opioid use was present in 20%. Response to POEM and post-POEM GERD were similar between opioid users and nonusers. (Clinical trial registration number: NCT02770859.).


Assuntos
Acalasia Esofágica , Transtornos da Motilidade Esofágica , Refluxo Gastroesofágico , Miotomia , Cirurgia Endoscópica por Orifício Natural , Humanos , Analgésicos Opioides/uso terapêutico , Transtornos da Motilidade Esofágica/epidemiologia , Transtornos da Motilidade Esofágica/cirurgia , Transtornos da Motilidade Esofágica/etiologia , Esfíncter Esofágico Inferior/cirurgia , Esofagoscopia , Refluxo Gastroesofágico/epidemiologia , Refluxo Gastroesofágico/etiologia , Manometria , Cirurgia Endoscópica por Orifício Natural/efeitos adversos , Prevalência , Resultado do Tratamento
15.
Gastrointest Endosc ; 97(3): 537-543.e2, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36228700

RESUMO

BACKGROUND AND AIMS: Performing a high-quality colonoscopy is critical for optimizing the adenoma detection rate (ADR). Colonoscopy withdrawal time (a surrogate measure) of ≥6 minutes is recommended; however, a threshold of a high-quality withdrawal and its impact on ADR are not known. METHODS: We examined withdrawal time (excluding polyp resection and bowel cleaning time) of subjects undergoing screening and/or surveillance colonoscopy in a prospective, multicenter, randomized controlled trial. We examined the relationship of withdrawal time in 1-minute increments on ADR and reported odds ratio (OR) with 95% confidence intervals. Linear regression analysis was performed to assess the maximal inspection time threshold that impacts the ADR. RESULTS: A total of 1142 subjects (age, 62.3 ± 8.9 years; 80.5% men) underwent screening (45.9%) or surveillance (53.6%) colonoscopy. The screening group had a median withdrawal time of 9.0 minutes (interquartile range [IQR], 3.3) with an ADR of 49.6%, whereas the surveillance group had a median withdrawal time of 9.3 minutes (IQR, 4.3) with an ADR of 63.9%. ADR correspondingly increased for a withdrawal time of 6 minutes to 13 minutes, beyond which ADR did not increase (50.4% vs 76.6%, P < .01). For every 1-minute increase in withdrawal time, there was 6% higher odds of detecting an additional subject with an adenoma (OR, 1.06; 95% confidence interval, 1.02-1.10; P = .004). CONCLUSIONS: Results from this multicenter, randomized controlled trial underscore the importance of a high-quality examination and efforts required to achieve this with an incremental yield in ADR based on withdrawal time. (Clinical trial registration number: NCT03952611.).


Assuntos
Adenoma , Pólipos do Colo , Neoplasias Colorretais , Masculino , Humanos , Pessoa de Meia-Idade , Idoso , Feminino , Estudos Prospectivos , Neoplasias Colorretais/diagnóstico , Fatores de Tempo , Adenoma/diagnóstico , Colonoscopia/métodos , Detecção Precoce de Câncer , Pólipos do Colo/diagnóstico
16.
Gastroenterology ; 164(1): 117-133.e7, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-36209796

RESUMO

BACKGROUND & AIMS: Next-generation sequencing (NGS) of pancreatic cyst fluid is a useful adjunct in the assessment of patients with pancreatic cyst. However, previous studies have been retrospective or single institutional experiences. The aim of this study was to prospectively evaluate NGS on a multi-institutional cohort of patients with pancreatic cyst in real time. METHODS: The performance of a 22-gene NGS panel (PancreaSeq) was first retrospectively confirmed and then within a 2-year timeframe, PancreaSeq testing was prospectively used to evaluate endoscopic ultrasound-guided fine-needle aspiration pancreatic cyst fluid from 31 institutions. PancreaSeq results were correlated with endoscopic ultrasound findings, ancillary studies, current pancreatic cyst guidelines, follow-up, and expanded testing (Oncomine) of postoperative specimens. RESULTS: Among 1933 PCs prospectively tested, 1887 (98%) specimens from 1832 patients were satisfactory for PancreaSeq testing. Follow-up was available for 1216 (66%) patients (median, 23 months). Based on 251 (21%) patients with surgical pathology, mitogen-activated protein kinase/GNAS mutations had 90% sensitivity and 100% specificity for a mucinous cyst (positive predictive value [PPV], 100%; negative predictive value [NPV], 77%). On exclusion of low-level variants, the combination of mitogen-activated protein kinase/GNAS and TP53/SMAD4/CTNNB1/mammalian target of rapamycin alterations had 88% sensitivity and 98% specificity for advanced neoplasia (PPV, 97%; NPV, 93%). Inclusion of cytopathologic evaluation to PancreaSeq testing improved the sensitivity to 93% and maintained a high specificity of 95% (PPV, 92%; NPV, 95%). In comparison, other modalities and current pancreatic cyst guidelines, such as the American Gastroenterology Association and International Association of Pancreatology/Fukuoka guidelines, show inferior diagnostic performance. The sensitivities and specificities of VHL and MEN1/loss of heterozygosity alterations were 71% and 100% for serous cystadenomas (PPV, 100%; NPV, 98%), and 68% and 98% for pancreatic neuroendocrine tumors (PPV, 85%; NPV, 95%), respectively. On follow-up, serous cystadenomas with TP53/TERT mutations exhibited interval growth, whereas pancreatic neuroendocrine tumors with loss of heterozygosity of ≥3 genes tended to have distant metastasis. None of the 965 patients who did not undergo surgery developed malignancy. Postoperative Oncomine testing identified mucinous cysts with BRAF fusions and ERBB2 amplification, and advanced neoplasia with CDKN2A alterations. CONCLUSIONS: PancreaSeq was not only sensitive and specific for various pancreatic cyst types and advanced neoplasia arising from mucinous cysts, but also reveals the diversity of genomic alterations seen in pancreatic cysts and their clinical significance.


Assuntos
Cistadenoma Seroso , Cisto Pancreático , Neoplasias Pancreáticas , Humanos , Estudos Retrospectivos , Cistadenoma Seroso/diagnóstico , Estudos Prospectivos , Neoplasias Pancreáticas/diagnóstico , Neoplasias Pancreáticas/genética , Neoplasias Pancreáticas/cirurgia , Cisto Pancreático/diagnóstico , Cisto Pancreático/genética , Cisto Pancreático/terapia , Sequenciamento de Nucleotídeos em Larga Escala , Aspiração por Agulha Fina Guiada por Ultrassom Endoscópico , Genômica , Proteínas Quinases Ativadas por Mitógeno/genética
17.
Ann Surg ; 277(5): e1072-e1080, 2023 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-35129503

RESUMO

OBJECTIVE: We evaluated a protocolized endoscopic necrosectomy approach with a lumen-apposing metal stent (LAMS) in patients with large symptomatic walled-off pancreatic necrosis (WON) comprising significant necrotic content, with or without infection. SUMMARY BACKGROUND DATA: Randomized trials have shown similar efficacy of endoscopic treatment compared with surgery for infected WON. DESIGN: We conducted a regulatory, prospective, multicenter single-arm clinical trial examining the efficacy and safety of endoscopic ultrasound -guided LAMS with protocolized necrosectomy to treat symptomatic WON ≥6 cm in diameter with >30% solid necrosis. After LAMS placement, protocolized WON assessment was conducted and endoscopic necrosectomy was performed for insufficient WON size reduction and persistent symptoms. Patients with radiographic WON resolution to ≤ 3 cm and/or 60-day LAMS indwell had LAMS removal, then 6-month follow-up. Primary endpoints were probability of radiographic resolution by 60 days and procedure-related serious adverse events. RESULTS: Forty consecutive patients were enrolled September 2018 to March 2020, of whom 27 (67.5%) were inpatients and 19 (47.5%) had clinical evidence of infection at their index procedure. Mean WON size was 15.0 ± 5.6 cm with mean 53.2% ± 16.7% solid necrosis. Radiographic WON resolution was seen in 97.5% (95% CI, 86.8%, 99.9%) by 60 days, without recurrence in 34 patients with 6-month follow-up data. Mean time to radiographic WON resolution was 34.1 ± 16.8 days. Serious adverse events occurred in 3 patients (7.5%), including sepsis, vancomycin-resistant enterococcal bacteremia and shock, and upper gastrointestinal bleeding. There were no procedure-related deaths. CONCLUSIONS: Endoscopic ultrasound-guided drainage with protocolized endoscopic necrosectomy to treat large symptomatic or infected walled-off necrotic pancreatic collections was highly effective and safe. Clinicaltrials.-gov no: NCT03525808.


Assuntos
Pancreatite Necrosante Aguda , Humanos , Drenagem/métodos , Endossonografia , Metais , Necrose/etiologia , Necrose/cirurgia , Pancreatite Necrosante Aguda/diagnóstico por imagem , Pancreatite Necrosante Aguda/cirurgia , Estudos Prospectivos , Estudos Retrospectivos , Stents/efeitos adversos , Resultado do Tratamento
18.
Dis Esophagus ; 36(4)2023 Mar 30.
Artigo em Inglês | MEDLINE | ID: mdl-36190182

RESUMO

There are limited data on the safety of same-day discharge (SDD) after peroral endoscopic myotomy (POEM). The aim of our study is to assess the frequency and relationship to POEM for emergency department (ED) visits and hospitalizations after SDD in these patients. We retrospectively identified consecutive patients between November 2019 and August 2021 who underwent POEM with SDD and at least 6 months follow-up. Criteria for SDD includes: (1) no serious procedure-related adverse event; (2) post-POEM esophagram without leak; (3) stable vital signs; (4) ability to take liquids orally; (5) pain controlled without IV analgesia; (6) adequate social support; (7) American Society of Anesthesiologists (ASA) class I-III. A causative relationship between POEM and ED visits and hospitalizations was assigned by consensus. Out of 185 POEMs performed, 78 (41.7%, 42M, mean 51±16 years) had SDD. Within 30 days of POEM, 8 ED visits occurred in 7/78 (9%) patients and 2 (25%) were considered related to POEM; hospitalization was required in 3 (38%). After 30 days, 11 ED visits occurred in 10/78 (12.8%) patients and 1 (9%) was considered related to POEM; hospitalization was required in 5 (45%). In this study of consecutive SDD patients after POEM, 3/19 (16%) ED visits and 2/8 (25%) hospitalizations within 6 months were considered related to the procedure. Therefore, eligible patients who follow and fulfill a strict protocol after POEM may be safely discharged the same day.


Assuntos
Acalasia Esofágica , Miotomia , Cirurgia Endoscópica por Orifício Natural , Humanos , Acalasia Esofágica/diagnóstico , Alta do Paciente , Estudos Retrospectivos , Resultado do Tratamento , Cirurgia Endoscópica por Orifício Natural/métodos , Dor , Miotomia/métodos , Esfíncter Esofágico Inferior
19.
Curr Rheumatol Rep ; 24(12): 371-382, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-36223002

RESUMO

PURPOSE OF REVIEW: The aim of this review is to provide an update of clinical presentation, diagnosis, differential diagnoses, and treatment according to recent evidence. RECENT FINDINGS: Neurosarcoidosis remains a diagnosis of exclusion, with infectious and malignant etiologies recognized as important mimickers. Corticosteroids remain as first-line therapy. In recent years, however, studies have demonstrated the effectiveness of anti-tumor necrosis factor (anti-TNF) therapy in the treatment of neurosarcoidosis, leading to improved outcomes. Neurosarcoidosis is a granulomatous disease with protean manifestations that may affect any part of the central and peripheral nervous system. It has many mimickers, and potentially devastating complications necessitating long-term follow-up. Early initiation of treatment, particularly with anti-TNF therapy, may lead to better outcomes and fewer relapses. There is an unmet need for randomized controlled trials that provide robust data to guide therapy and the long-term management of neurosarcoidosis patients.


Assuntos
Doenças do Sistema Nervoso Central , Sarcoidose , Humanos , Inibidores do Fator de Necrose Tumoral , Doenças do Sistema Nervoso Central/diagnóstico , Doenças do Sistema Nervoso Central/tratamento farmacológico , Sarcoidose/diagnóstico , Sarcoidose/tratamento farmacológico , Fenótipo
20.
Gastrointest Endosc ; 96(4): 679-682, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-35550794

RESUMO

BACKGROUND AND AIMS: ORISE (Boston Scientific, Marlborough, Mass, USA) is a viscous gel used for submucosal injection. We noted anecdotally that ORISE is associated with submucosal distortion of EMR scars at follow-up. METHODS: We blindly reviewed photographs of 30 consecutive EMR scars at follow-up after resections using ORISE and 30 resections using other agents. Distortion was scored on a scale of 0 (no submucosal distortion) to 5 (overt submucosal distortion). RESULTS: The median submucosal distortion score at follow-up in ORISE cases was 3 (range, 0-5) versus 0 (range, 0-2) with other fluids (P < .001, Mann-Whitney U test) by 1 reviewer and 3 (range, 0-5) versus 2 (range, 0-5), respectively, by a second reviewer (P = .018). The kappa value for agreement in the submucosal distortion scores between the 2 experts was .148 for all photographs and .214 for the ORISE cases (overall minimal agreement). CONCLUSIONS: ORISE can cause submucosal distortion in the region of EMR scars when they are viewed at follow-up. Such distortions must not be mistaken for submucosal tumor growth.


Assuntos
Colonoscopia , Neoplasias Colorretais , Cicatriz/patologia , Neoplasias Colorretais/patologia , Neoplasias Colorretais/cirurgia , Seguimentos , Humanos , Mucosa Intestinal/patologia , Mucosa Intestinal/cirurgia
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