Case series of non-ampullary duodenal adenomas.
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ABSTRACT:
SUBMITTER: Yadav A
PROVIDER: S-EPMC8408424 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:AbstractSporadic non-ampullary duodenal adenoma (SNADA) is a rare disease, and therefore, its clinical characteristics have not been comprehensively investigated. Furthermore, owing to the high complication rates and severity of endoscopic resection, treatment strategies vary among facilities. In the present study, we aimed to clarify the clinical characteristics and course of SNADA.We extracted clinical and histological records of SNADA cases diagnosed in 11 hospitals between September 1999 and August 2014. The patients were divided into "no-resection" and "resection" groups based on the initial treatment approach. We investigated the long-term outcome of the "no-resection" group and treatment results of the "resection" group, with particular interest in endoscopic resection.Overall, 299 patients were diagnosed with SNADA. The median age at diagnosis was 67 years (range, 31-88 years), with approximately twice as many men as women. The median tumor size was 8.0 mm (2-60 mm). In total, 161 patients were initially selected for no-resection and 138 underwent resection. Age >70 years and the presence of either severe illness or poor performance status were significantly related to opting for no-resection. In the no-resection group, 101 patients underwent endoscopic follow-up for at least 1 year. During the observational period (2.5 ± 2.2 years), 27 lesions (27%) disappeared following cold forceps biopsy, and 13 lesions (14%) presented lateral growth. Four lesions (4%) changed to mucosal carcinoma, 3 were treated endoscopically, and 1 was surgically resected. Nineteen patients died; however, no one died of duodenal carcinoma. In the endoscopic resection group, en bloc resection was achieved in 78% of patients. However, the complication rate for perforation was 7%, and endoscopic submucosal dissection was associated with a 36% perforation rate.With the low incidence of cancer development and no disease specific death, the strategy of initially not performing resection could be considered especially for the older adults, poor-prognosis patients, or small lesions.
| S-EPMC8483853 | biostudies-literature
Project description:The molecular and clinical characteristics of non-ampullary duodenal adenomas and intramucosal adenocarcinomas are not fully understood because they are rare. To clarify these characteristics, we performed genetic and epigenetic analysis of cancer-related genes in these lesions. One hundred and seven non-ampullary duodenal adenomas and intramucosal adenocarcinomas, including 100 small intestinal-type tumors (90 adenomas and 10 intramucosal adenocarcinomas) and 7 gastric-type tumors (2 pyloric gland adenomas and 5 intramucosal adenocarcinomas), were investigated. Using bisulfite pyrosequencing, we assessed the methylation status of CpG island methylator phenotype (CIMP) markers and MLH1. Then using next-generation sequencing, we performed targeted exome sequence analysis within 75 cancer-related genes in 102 lesions. There were significant differences in the clinicopathological and molecular variables between small intestinal- and gastric-type tumors, which suggests the presence of at least two separate carcinogenic pathways in non-ampullary duodenal adenocarcinomas. The prevalence of CIMP-positive lesions was higher in intramucosal adenocarcinomas than in adenomas. Thus, concurrent hypermethylation of multiple CpG islands is likely associated with development of non-ampullary duodenal intramucosal adenocarcinomas. Mutation analysis showed that APC was the most frequently mutated gene in these lesions (56/102; 55%), followed by KRAS (13/102; 13%), LRP1B (10/102; 10%), GNAS (8/102; 8%), ERBB3 (7/102; 7%), and RNF43 (6/102; 6%). Additionally, the high prevalence of diffuse or focal nuclear β-catenin accumulation (87/102; 85%) as well as mutations of WNT pathway components (60/102; 59%) indicates the importance of WNT signaling to the initiation of duodenal adenomas. The higher than previously reported frequency of APC gene mutations in small bowel adenocarcinomas as well as the difference in the APC mutation distributions between small intestinal-type adenomas and intramucosal adenocarcinomas may indicate that the adenoma-carcinoma sequence has only limited involvement in duodenal carcinogenesis. © 2020 The Authors. The Journal of Pathology published by John Wiley & Sons, Ltd. on behalf of The Pathological Society of Great Britain and Ireland.
| S-EPMC7693035 | biostudies-literature
Project description:Opinion statementWith the widespread use of esophagogastroduodenoscopy in recent years, the detection rate of superficial non-ampullary duodenal epithelial tumors (SNADETs) is increasing. Most SNADETs are early-stage adenocarcinoma or benign conditions, including adenoma. Therefore, endoscopic resection is desirable from the perspective of quality of life. However, endoscopic resection for SNADETs has not yet been established. Endoscopic submucosal dissection (ESD) is the most promising method for the treatment of SNADETs, because ESD provides a high rate of en bloc resection and a low rate of recurrence regardless of the tumor size. However, the difficulty of the procedure and a high rate of severe adverse events including perforation and bleeding have become major problems. Various preventive countermeasures for adverse events, such as use of specific devices, endoscope stabilization methods, and endoscopic closure of the post-ESD ulcer using clips, are reported to reduce the risk of the adverse events of ESD for SNADETs. This article reviews and highlights the current state of ESD for SNADETs and new challenges towards safe and effective ESD.
| S-EPMC7588384 | biostudies-literature
Project description:ObjectiveThe rare incidence of submucosal invasive non-ampullary duodenal carcinoma has led to scant information in literature; therefore, we compared the clinicopathological features between submucosal invasive carcinoma (SM-Ca), mucosal carcinoma (M-Ca), and advanced carcinoma (Ad-Ca).MaterialsWe retrospectively analyzed 165 patients with sporadic non-ampullary duodenal carcinomas (SNADCs) from four institutions between January 2003 and December 2018. The SNADCs were divided to three groups according to histological diagnosis: SM-Ca, M-Ca, and Ad-Ca. The clinicopathological characteristics and mucin phenotypes were compared between groups.ResultsAmong the 165 SNADCs, 11 (7%) were classified as SM-Ca, 70 (42%) as M-Ca, and 84 (51%) as Ad-Ca. We found that all SM-Ca (P = 0.013) and most Ad-Ca (P = 0.020) lesions were located on the oral-Vater; however, an almost equal distribution of M-Ca lesions was found between the oral- and anal-Vater. No significant difference was observed between the tumor diameter of M-Ca and SM-Ca; however, 45% (5/11) of SM-Ca were ≤10 mm. A total of 73% (8/11) of SM-Ca were classified as gastric phenotype and no lesions were classified as intestinal phenotype; whereas most M-Ca were classified as intestinal phenotype (67%, 8/12).ConclusionsSM-Ca lesions were all located on the oral-Vater and were highly associated with the gastric mucin phenotype, which were different from the features of most M-Ca.
| S-EPMC8396771 | biostudies-literature
Project description:AimsWe aimed to clarify the endoscopic/clinicopathological features of superficial non-ampullary duodenal epithelial tumors (SNADETs) based on their mucin phenotypes.MethodsWe analyzed 62 SNADET lesions and classified them based on mucin phenotypic expression. Endoscopic and clinicopathological findings were compared according to mucin phenotypes.ResultsEleven lesions had the gastric phenotype (GP) and 43 lesions had the intestinal phenotype (IP). All GP lesions were located in the first portion of the duodenum, while most IP lesions (72.1%) were located in the second portion (p < 0.01). Tumor size was significantly larger in the GP than in the IP group (14.4 mm vs. 10.2 mm, p < 0.05). Reddish color (72.7% in GP vs. 37.2% in IP, p < 0.05), type 0-I (72.7% vs. 11.6%, p < 0.01), lobular/granular pattern (81.8% vs. 4.7%, p < 0.01), and category 4/5 in Vienna classification (81.8% vs. 30.2%, p < 0.01) were observed significantly more often in the GP than in the IP group. Regarding findings of magnifying endoscopy with narrow-band imaging (M-NBI), white opaque substance (22.2% in GP vs. 89.7% in IP, p < 0.01) and light blue crest (0% vs. 43.6%, p < 0.05) were significantly less frequently observed in the GP group. Oval-shaped marginal epithelium (66.7% vs. 17.9%, p < 0.01), dense pattern (55.6% vs. 2.6%, p < 0.01), and dilatation of the intervening part (100% vs. 12.8%, p < 0.01) were more frequently observed in the GP group.ConclusionsSNADETs showed distinct endoscopic/clinicopathological features according to the mucin phenotype. Tumor location, coloration, macroscopic type, and endoscopic findings including M-NBI are useful to distinguish the mucin phenotypes of SNADETs.
| S-EPMC8491506 | biostudies-literature
Project description:BackgroundFunctional gonadotroph adenomas (FGAs) are rare tumors of the pituitary gland that secrete biologically active gonadotropins.ObjectiveTo advance clinical understanding of FGAs.MethodsWe performed a retrospective review of adult patients who underwent resection of a pituitary lesion between August 1997 and October 2014 and remain under care at our center. We identified patients who had pathologic and biochemical confirmation of FGAs, as defined by a lack of serum follicle-stimulating hormone/luteinizing hormone suppression in the setting of elevated gonadal steroids, associated clinical symptoms, or both.ResultsFGAs were documented in 7 patients (5 men, 2 women) over a 17-year period. Clinical findings at presentation included visual field deficits in 5 patients, headache in 3, sexual dysfunction in 3, and ovarian cysts in both women. Each patient underwent lesion resection (6 via the endonasal transsphenoidal approach and 1 via a craniotomy with transsphenoidal reoperation). Analysis of tumor samples revealed immunopositivity for follicle-stimulating hormone/luteinizing hormone in 5 patients and FSH only in 2 patients. Postoperative follow-up (median, 10 months; range, 4-213 months) indicated remission in 6 of 7 patients.ConclusionAn FGA can pose both a diagnostic and a therapeutic challenge. The tumor is often diagnosed as a nonfunctioning macroadenoma after presenting with nonspecific symptoms and is the cause of significant morbidity. An FGA should be considered in the differential diagnosis of patients harboring pituitary adenomas with reproductive dysfunction. Transsphenoidal resection is the initial treatment of choice and can reduce endocrine dysfunction, resolve headaches, improve visual impairment, and provide tissue for detailed analysis.AbbreviationsFGA, functional gonadotroph adenomaFSH, follicle-stimulating hormoneLH, luteinizing hormoneTSH, thyroid-stimulating hormone.
| S-EPMC4912468 | biostudies-literature
Project description:RationaleEndoscopic resection of superficial non-ampullary duodenal epithelial neoplasm (SNADEN) is a challenging procedure owing to the high recurrence rate and considerable incidence rate of adverse events.Patient concernsSNADEN accidentally found during a medical examination in a 56-year-old man.DiagnosisThe patient was diagnosed as having a 20-mm-sized flat elevated SNADEN at the superior duodenal angle.InterventionsFirst, we tried to perform conventional EMR (CEMR). However, the submucosal injection interrupted the endoscopic view and did not provide enough space for CEMR because of its angulated location. Therefore, we chose to perform endoscopic resection using the "loop-and-let-go" technique. Follow-up duodenoscopy after 2 days revealed post CEMR ulcer with suspicious remnant lesion. Underwater endoscopic mucosal resection (UEMR) was successfully performed 3 months after the first session of endoscopic resection.OutcomesComplete endoscopic en bloc resection and histological complete resection were achieved with UEMR. Follow-up duodenoscopy revealed no recurrence.LessonsStep-by-step endoscopic treatment with UEMR following loop-and-let-go technique may be a good strategy for SNADEN over 20-mm in diameter.
| S-EPMC7808504 | biostudies-literature
Project description:Non-ampullary duodenal adenocarcinoma (NADC) is extremely rare. Little is known about its clinicopathological and molecular features or its management. Herein we retrospectively analyzed the cases of 32 NADC patients, focusing on microsatellite instability (MSI), genetic mutations, CpG island methylator phenotype (CIMP), and immunostaining including mucin phenotype and PD-L1 expression. The incidence of MSI, KRAS/BRAF/GNAS mutations and CIMP was 51.6%, 34.4%/3.1%/6.5% and 28.1%, respectively. PD-L1 expression was seen in 34.4% of patients. No significant associations between clinicopathological features and KRAS/BRAF/GNAS genetic mutations or CIMP were found. Histologically non-well-differentiated-type NADCs and those in the 1st portion of the duodenum were significantly associated with later stages (stages III-IV) (P = 0.006 and P = 0.003, respectively). Gastric-phenotype NADCs were frequently observed in the 1st portion and in late-stage patients; their cancer cells more frequently expressed PD-L1. Histologically, the non-well-differentiated type was an independent predictor of PD-L1 expression in cancer cells (OR 25.05, P = 0.04) and immune cells (OR 44.14, P = 0.02). Only late-stage disease (HR 12.23, P = 0.01) was a prognostic factor for worse overall survival in a Cox proportional hazards regression model. Our observation of high proportions of MSI and PD-L1 expression may prompt the consideration of immune checkpoint inhibitors as a new treatment option for NADCs.
| S-EPMC6642201 | biostudies-literature
Project description:Upper Gastrointestinal (GI) pseudomelanosis is an uncommon entity characterized by endoscopic visualization of speckled dark mucosal pigmentation. While described in the rectum and colon, 'melanosis' or more aptly 'pseudomelanosis' is rare in the duodenum and exceedingly rare in the stomach. Five cases of pseudomelanosis were encountered at our department. Four females and one male were diagnosed, with a mean age of 70 years. All patients exhibited duodenal pseudomelanosis, with one demonstrating gastric antral pseudomelanosis as well. Common features among these patients included iron deficiency anemia, hypertension, chronic kidney disease, hydralazine use and iron supplementation. Biopsy specimens stained at least partially positive for iron and stains for calcium and copper were negative. Histochemical analysis revealed the pigment of pseudomelanosis to be mainly iron sulfide, exhibiting unpredictable staining patterns, hypothesized to be secondary to varying sulfur content and iron oxidation. It is visualized as dark deposits in macrophages at the tips of the duodenal villi. Upper GI pseudomelanosis remains a poorly understood finding, weakly associated with chronic kidney disease, diabetes, hypertension, iron supplements and anti-hypertensive medications. While the pathogenesis, clinical and prognostic significance remains unclear, it is thus far considered a benign condition.
| S-EPMC5510141 | biostudies-other
Project description:The prognostic impact of pathologic response to preoperative therapy on patients with duodenal adenocarcinoma (DA) and ampullary adenocarcinoma (AMPA) has not been established.A retrospective review of 266 patients who underwent curative resection for DA (n = 97) or AMPA (n = 169) during 1993-2015 was performed. For patients who underwent preoperative therapy, the pathologic response was systematically evaluated and classified as major (0-49% of viable residual tumor cells) or minor (? 50% of viable residual tumor cells). Uni- and multivariable analyses were performed to identify predictors of pathologic response and disease-specific survival (DSS).For the 79 patients treated with preoperative therapy (DA: n = 34; AMPA: n = 45), concomitant use of radiation (80%, 67/79) was the sole independent predictor of major pathologic response (odds ratio [OR] 8.17; 95% confidence interval [CI] 1.85-58.2; P = 0.005). The patients with major pathologic response had a better 5-year DSS rate than the patients with minor pathologic response (DA: 65 vs 25%; P = 0.028; AMPA: 85 vs 43%; P = 0.016). In the multivariable analysis of DSS for the 79 patients who underwent preoperative therapy, major pathologic response was the sole predictor of improved DSS (hazard ratio [HR] 2.88; 95% CI 1.41-5.98; P = 0.004). In the multivariable analysis of DSS for the entire cohort, pathologic stage 2 or lower was the sole predictor of better DSS.The major pathologic response to preoperative therapy predicted improved DSS after resection of DA and AMPA and might represent a new prognosticator after resection of DA and AMPA.
| S-EPMC6039188 | biostudies-literature