Orphanet Journal of Rare Diseases最新文献

{"title":"Gestational trophoblastic neoplasia with pancreatic metastasis: clinical characteristics, treatment strategies, and outcomes.","authors":"Xinghan Cheng, Dan Wang, Xiaoyu Wang, Yang Gui, Xiaoyan Chang, Fengzhi Feng, Jun Zhao, Junjun Yang, Yang Xiang","doi":"10.1186/s13023-025-04014-6","DOIUrl":"10.1186/s13023-025-04014-6","url":null,"abstract":"<p><strong>Objective: </strong>Pancreatic metastasis of gestational trophoblastic neoplasia (GTN) is extremely rare, with only a few reported cases.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on GTN patients with pancreatic metastasis at Peking Union Medical College Hospital (2000-2024) and a literature review was performed. A descriptive analysis was carried out on the clinical characteristics, treatment strategies, and outcomes of patients who met the inclusion criteria. Fisher's exact test was used to analyze differences in metastatic patterns and clinical outcomes among patients with different clinical characteristics.</p><p><strong>Results: </strong>A total of 24 cases were identified (7 from our institute, 17 from literature): 18 choriocarcinomas, 5 placental-site trophoblastic tumors, and 1 epithelioid trophoblastic tumor. Pancreatic metastasis led to organ-specific symptoms. Treatments included chemotherapy (single/multi-agent), immunotherapy, and targeted therapy. Six patients underwent surgical or localized interventions. Outcomes varied: 9 (37.5%) achieved disease-free survival, 5 (20.8%) had partial remission, and 10 (41.7%) died. Surgical or invasive interventions were associated with significantly improved outcomes (P = 0.024).</p><p><strong>Conclusion: </strong>Pancreatic invasion in GTN is a high-risk condition often associated with poor outcomes. Advanced imaging techniques enhance diagnostic accuracy, while endoscopic ultrasound-guided fine-needle biopsy provides essential histopathological confirmation. Multi-agent chemotherapy remains the cornerstone of treatment, with surgical interventions carefully tailored to the individual patient's condition. For better management and prognosis, an initial treatment strategy integrating multi-agent chemotherapy, immunotherapy, and targeted therapies may offer benefits; however, further investigation is warranted.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"482"},"PeriodicalIF":3.5,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12462058/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145137517","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Tissue and systemic inflammation in dystrophic epidermolysis bullosa: a systematic review and meta-analysis.","authors":"Meropi Karakioulaki, Nana-Adjoa Kwarteng, Adriani Nikolakopoulou, Hanning Yang, Moritz Hess, Harald Binder, Kilian Eyerich, Cristina Has","doi":"10.1186/s13023-025-04034-2","DOIUrl":"10.1186/s13023-025-04034-2","url":null,"abstract":"<p><strong>Background: </strong>Dystrophic epidermolysis bullosa (DEB) is a rare inherited skin disorder caused by mutations in the type VII collagen gene, leading to mucocutaneous blistering. Subsequent inflammation contributes to chronic wounds, scarring, and systemic complications. There is controversy over whether and how inflammation should be therapeutically targeted.</p><p><strong>Objective: </strong>This systematic review and meta-analysis aim to question tissue and systemic inflammation in DEB and identify inflammatory patterns and research gaps to improve patient management.</p><p><strong>Methods: </strong>A comprehensive search of MEDLINE via PubMed was conducted to identify studies examining \"DEB and tissue or systemic inflammation\". Out of 663 studies identified, 37 met the inclusion criteria. Data for synthesis were extracted from studies assessing systemic inflammatory parameter levels in DEB patients. For outcomes with multiple available studies, we performed an exploratory network meta-analysis to compare the standardized mean difference in systemic inflammatory parameters across three patient groups: DEB patients, healthy controls, and patients with other types of epidermolysis bullosa (EB).</p><p><strong>Results: </strong>The point estimate results for IL-4, IL-6, tumor necrosis factor-alpha, C-reactive protein, immunoglobulin (Ig) A, IgG, and IgM, as well as anti-collagen VII, anti-BP230, anti-BP180 autoantibodies suggested elevated values in DEB patients compared to healthy patients or other EB patients. The estimated standardized mean differences showed lower values of interleukin (IL)-10, hemoglobin and serum albumin in DEB patients compared to controls or other EB patients.</p><p><strong>Conclusion: </strong>Current evidence is limited by small and heterogeneous patient cohorts, variability in study designs and reporting methods, and a predominant reliance on observational and retrospective descriptive studies. Well-designed clinical trials and prospective studies are necessary to further investigate inflammatory pathways and assess the efficacy of (targeted) anti-inflammatory therapies but are difficult to perform and cost-intensive. AI tools for small-data may support research in this field. PROSPERO Registration Number CRD42024535352.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"479"},"PeriodicalIF":3.5,"publicationDate":"2025-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12455789/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145131411","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction: Identity development and adaptation in adolescents with genetic conditions: a qualitatively oriented mixed-methods study to develop strategies for optimizing clinical genetics services.","authors":"Tasha Wainstein, Cyrus Boelman, Connie Ens, William T Gibson, Kevin Gregory-Evans, Olubayo U Kolawole, Sheila K Marshall, Kathryn Selby, Jehannine Austin, Alison M Elliott","doi":"10.1186/s13023-025-04023-5","DOIUrl":"10.1186/s13023-025-04023-5","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"478"},"PeriodicalIF":3.5,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12447612/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145086711","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"XLH Matters 2024: expert insights and practical tools for enhancing care of people living with X-linked hypophosphataemia.","authors":"Lothar Seefried, Ali S Alzahrani, Carsten A Wagner, Damian Eade, Danilo Fintini, Dieter Haffner, Hasan Frookh Jamal, Judith S Bubbear, Laura Guazzarotti, Moira S Cheung, Noina Abid, Patrícia Costa-Reis, Rui Ferreira Santos, Signe Sparre Beck-Nielsen, Agnès Linglart","doi":"10.1186/s13023-025-03930-x","DOIUrl":"10.1186/s13023-025-03930-x","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 Suppl 2","pages":"477"},"PeriodicalIF":3.5,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12445020/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145086728","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Respiratory function in 192 adult patients with spinal muscular atrophy (SMA) treated with nusinersen - a multicenter observational study.","authors":"Claudia D Wurster, Benjamin Stolte, Tobias Kessler, Maren Freigang, Bogdan Bjelica, Benjamin Ilse, Jan C Koch, Isabell Cordts, Alexander Mensch, Daniel Zeller, Zeljko Uzelac, Georges Sam, Hanna Sophie Lapp, Camilla Wohnrade, Annekathrin Rödiger, Mohamad Tareq Muhandes, Ilka Schneider, Julia Bellut, Julia Nentwich, Johannes Dorst, Joachim Schuster, Olivia Schreiber-Katz, Alma Osmanovic, Andreas Totzeck, Andreas Thimm, Robert Steinbach, Julian Grosskreutz, Christoph Kleinschnitz, Albert C Ludolph, Marcus Deschauer, Janbernd Kirschner, Jens Dreyhaupt, Kurt Wollinsky, Susanne Petri, Markus Weiler, Tim Hagenacker, René Günther","doi":"10.1186/s13023-025-04009-3","DOIUrl":"10.1186/s13023-025-04009-3","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"476"},"PeriodicalIF":3.5,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12418672/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145023836","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Measurement of fatigue in sickle cell disease: a systematic review of fatigue measures.","authors":"Alice Gourdin, Damien Oudin Doglioni, Michalina Dannoune, Mélanie Astié, Fanny Hamelin, Sébastien Monnier, Caroline Makowski, Marie-Claire Gay","doi":"10.1186/s13023-025-03961-4","DOIUrl":"10.1186/s13023-025-03961-4","url":null,"abstract":"<p><strong>Background: </strong>Sickle cell disease (SCD) is a chronic inherited blood disorder caused by abnormal haemoglobin production, affecting over seven million people worldwide. Although pain-particularly acute bone pain-is the hallmark symptom of this disease, fatigue is also a commonly observed manifestation. Fatigue is a debilitating symptom in Sickle Cell Disease (SCD) that significantly impacts quality of life. Accurate assessment of fatigue is crucial for effective disease management. However, a comprehensive analysis of fatigue assessment tools in SCD research is lacking.</p><p><strong>Objective: </strong>This systematic literature review aims to identify and evaluate self-reported psychometric measures of fatigue used in SCD research with children, adolescents, young adults and adults.</p><p><strong>Methods: </strong>A systematic search was conducted across six databases from 2010 to March 2024. The main inclusion criteria included peer-reviewed journal articles, patients with all SCD genotypes, studies evaluating fatigue using a self-reported psychometric measure, and studies published in English or French. The PRISMA guidelines were followed for study selection and data extraction.</p><p><strong>Results: </strong>Twenty-eight studies met the inclusion criteria, reporting on 16 psychometric measures of fatigue. The most frequently used tool was the PROMIS system. Nine dimensions of fatigue were identified, including general, physical, mental, cognitive, emotional fatigue, and its impact on motivation, activity, vigour, and sleep/rest. However, the definitions of these dimensions were often unclear. Reported fatigue scores are not directly comparable due to methodological issues and variability in the assessment used. These methodological issues limit our knowledge on the prevalence of fatigue in SCD.</p><p><strong>Conclusion: </strong>The lack of a standardised fatigue assessment tool in SCD research hinders direct comparison of fatigue scores across studies. Future research should prioritise the development of a tailored assessment tool for SCD, considering the specific dimensions of fatigue relevant to this population. In the interim, clinicians and researchers can employ a combination of multidimensional and unidimensional tools to gain a more comprehensive understanding of patients' fatigue experiences.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"475"},"PeriodicalIF":3.5,"publicationDate":"2025-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12409949/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144992931","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Functional and histopathologic correlation in the fabry nephropathy with N215S genotype.","authors":"Renzo Mignani, Gian Marco Berti, Gisella Vischini, Roberta Di Costanzo, Francesca Ciurli, Daniele Vetrano, Elena Biagini, Serena Serratore, Benedetta Fabbrizio, Gianandrea Pasquinelli, Gaetano La Manna, Irene Capelli","doi":"10.1186/s13023-025-03994-9","DOIUrl":"10.1186/s13023-025-03994-9","url":null,"abstract":"<p><strong>Rationale & objective: </strong>Late-onset Anderson-Fabry disease appears in adulthood, usually with prevalent cardiac involvement. The N215S (p.Asn215Ser) missense mutation represents the most frequent late-onset variant in European countries. The N215S nephropathy was then investigated from a clinical and histopathological point of view.</p><p><strong>Study design: </strong>Renal and cardiac assessments were evaluated at baseline. The standardized scoring system of histologic involvement proposed by International Study Group of Fabry Nephropathy was applied to kidney biopsies, performed before the treatment start. A deeper digital histological reinterpretation was provided in a subgroup. Treated patients' renal function was evaluated at diagnosis (T0), after 5 years (T1) and after 10 years (T2) from the treatment start.</p><p><strong>Setting & participants: </strong>27 patients (11 males, 16 female) with a N215S variant were evaluated.</p><p><strong>Findings: </strong>Mean eGFR at diagnosis was 84.98 ± 26.4 mL/min/1.73m², and 6 patients were CKD-stage 3-5. In the 24 treated patients, the mean T0 eGFR was 86.5 ± 28.01 mL/min/1.73m²; 26% with CKD-stage 3-5 (mean eGFR 45.3 ± 19.4 mL/min/1.73m²). At T1, the mean eGFR in 14/24 patients was 69.1 mL/min/1.73m² and 35% with CKD-stage 3-5 (mean eGFR 33.3 ± 17.1 mL/min/1.73m²). T2 was evaluated in 6 patients, of which 5/6 (85%) with CKD-stage 3 (mean eGFR 43.2 ± 20 mL/min/1.73m²). 18/18 patients presented kidney biopsies with different degrees of podocyte vacuolization, while sclerosis was documented in 9/18. 14/18 patients showed a higher podocyte vacuolization score. Males showed significant greater interstitial fibrosis (p 0.016). Arteriolar intimal fibrosis significantly correlated with eGFR at baseline (p 0.09).</p><p><strong>Limitations: </strong>The main limitation was the number of patients, as well as the number of available kidney and cardiac biopsies.</p><p><strong>Conclusions: </strong>Even at early stages, N215S patients display typical histological abnormalities of Fabry disease. Moreover, chronic kidney disease seems to progress over time in treated patients, with arterial and arteriolar intimal fibrosis.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"468"},"PeriodicalIF":3.5,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12403288/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144963900","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"DNAH10 mutation cause primary ciliary dyskinesia with defects of IDAf complex assembly and lung fibrosis manifestation.","authors":"Rui Zheng, Wenhao Yang, Jierui Yan, Zhuoyao Guo, Weicheng Chen, Lina Chen, Wenming Xu","doi":"10.1186/s13023-025-03977-w","DOIUrl":"10.1186/s13023-025-03977-w","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"469"},"PeriodicalIF":3.5,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12403265/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144963930","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence and predictors of uncommon features in FSHD1 patients: insights from the French FSHD registry.","authors":"Benoît Sanson, Abderhmane Slioui, Jérémy Garcia, Lori Klouvi, Julie Lejeune, Caroline Stalens, Céline Guien, Sitraka Rabarimeriarijaona, Rafaëlle Bernard, Juliette Nectoux, Sharham Attarian, Anne-Laure Bédat-Millet, Françoise Bouhour, François Constant Boyer, Jean-Baptiste Chanson, Ariane Choumert, Pascal Cintas, Elisa De La Cruz, Léonard Féasson, Maxime Fournier, Karima Ghorab, Agnès Jacquin-Piques, Pascal Laforêt, Armelle Magot, Maud Michaud, Jean-Baptiste Noury, Guilhem Solé, Marco Spinazzi, Tanya Stojkovic, Céline Tard, Luisa Villa, Christophe Béroud, Sabrina Sacconi","doi":"10.1186/s13023-025-03877-z","DOIUrl":"10.1186/s13023-025-03877-z","url":null,"abstract":"<p><strong>Background: </strong>Facioscapulohumeral muscular dystrophy (FSHD) is characterized by a typical pattern of muscle involvement, yet it encompasses a wide spectrum of phenotypes, including less common features that remain incompletely defined in the literature. While previous studies have highlighted this clinical variability, no consensus has been reached on how to classify uncommon manifestations, nor have specific predictors been identified. This study aims to describe these uncommon features and explore potential predictors, utilizing data from the French FSHD registry. To this end, we analysed data from 306 FSHD1 patients across nine French neuromuscular referral centres. Descriptive statistics, univariate analyses, and multiple logistic regression models were employed to examine uncommon characteristics and their predictors.</p><p><strong>Results: </strong>Uncommon features were observed in 19.6% of cases. The most common was a discrepancy between disease severity and D4Z4 repeat unit (RU) count (41.7%), followed by predominant impairment at proximal lower limb or distal upper limb muscles (21.7%). Three unanticipated features emerged: isolated or predominant axial impairment, anosmia and atopic dermatitis. Univariate analysis revealed that uncommon features were associated with higher RU count (6.5 ± 2.1 vs. 5.8 ± 1.8 in typical patients) and older age of onset (32.0 ± 18.8 years vs. 25.0 ± 15.4 years). Such features were more prevalent in the borderline 8-10 RU range, an association confirmed by multivariate analysis (OR = 2.43, 95% CI 1.21 to 4.87). Later age of onset consistently emerged as a factor across multiple multivariate models.</p><p><strong>Conclusions: </strong>This study documents uncommon FSHD features, revealing their association with the 8-10 RU range and later age of onset. These findings further support a complex interplay among genetic and epigenetic modifiers and ageing in shaping the clinical phenotype of FSHD, especially in patients carrying borderline D4Z4 arrays. Differential phenotypes, particularly in relation to RU range and age of onset, points to the importance of harmonized, comprehensive clinical and genetic assessments. Recognizing uncommon features may improve diagnostic accuracy and guide individualized management strategies, highlighting the need for tailored approaches to patient care.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"470"},"PeriodicalIF":3.5,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12403360/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144963879","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Complications and recurrence risks after endoscopic resection of digestive neuroendocrine tumors: a retrospective study.","authors":"Yuan Si, HongZhi Wu, Chao Wang, ZongXian Niu, Bo Wang, XianHui Zhang","doi":"10.1186/s13023-025-03992-x","DOIUrl":"10.1186/s13023-025-03992-x","url":null,"abstract":"<p><strong>Background: </strong>Peri-and postoperative complications and recurrences are associated with the endoscopic surgical procedures for neuroendocrine tumors of the digestive system. This study aimed to evaluate the long-term outcomes and safety of endoscopic submucosal dissection and mucosal resection for neuroendocrine tumors in the digestive system.</p><p><strong>Methods: </strong>In a retrospective cohort study, variables of minimally invasive endoscopic treatments and follow-up recurrences of 100 males and females with neuroendocrine tumors of gastric, duodenal, and rectal lesions were collected from records and analyzed. The curative resection criteria were followed the European Society of Gastrointestinal Endoscopy (ESGE) guidelines. Endoscopic ultrasound (EUS) and/or biopsy with histological assessment) routinely performed on all lesions included in this study for lesion confirmation prior to endoscopic resection.</p><p><strong>Results: </strong>Tumor size from 6 to 11.3 mm and endoscopic surgery procedure time from 6 to 13 min were reported. Forty-nine, 44, and seven lesions were located in the gastric, rectal, and duodenal regions, respectively. Six (6%), 4 (4%), 16 (16%), and 5 (5%) patients reported bleeding, perforation, nausea, and vomiting, respectively, due to the surgical procedure(s). Five patients (5%) underwent recurrent endoscopic surgery. Local recurrences occurred in three (3%; two (2%) of gastric lesions and one (1%) of duodenal lesions; all grade 1) patients, and distal metastases occurred in two (2%) patients. None of the patients died during the follow-up period. Before surgery, grade 2 (p = 0.049), tumor size ≥ 9.5 mm (p = 0.041), and gastric tract and rectal lesions (p = 0.021) were associated with local and/or distal metastases.</p><p><strong>Conclusions: </strong>The prevalence of neuroendocrine tumors is high in the stomach and rectum, endoscopic resection may be safe, and high-grade tumors may be associated with a high risk of recurrence.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"472"},"PeriodicalIF":3.5,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12403926/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144963869","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}