Orphanet Journal of Rare Diseases最新文献

{"title":"Exercise capacity in RYR1-related myopathies.","authors":"Lisa M K Chin, Joshua J Todd, Irene C Chrismer, Jessica W Witherspoon, Minal Jain, Melissa Waite, Katherine G Meilleur, Bart Drinkard, Tokunbor A Lawal","doi":"10.1186/s13023-025-04013-7","DOIUrl":"10.1186/s13023-025-04013-7","url":null,"abstract":"<p><strong>Background: </strong>Pathogenic variations affecting the ryanodine receptor 1 (RYR1) gene may result in a variety of neuromuscular disorders, collectively known as RYR1-related myopathies. Considered the most common form of congenital myopathy, individuals with RYR1-related myopathies may experience skeletal muscle weakness and fatigue, as well as reduced functional capacity. This study examined the exercise capacity in individuals with RYR1-related myopathies during a cardiopulmonary exercise test.</p><p><strong>Methods: </strong>Ambulatory individuals (32 adults, 16 children) with genetically confirmed RYR1-related myopathies performed exercise testing on a cycle ergometer and a six-minute walk test at baseline and month six (pre-intervention phase) of a randomized controlled trial (NCT02362425). Outcomes at peak exercise were compared to expected values among the adult and pediatric populations, while longitudinal changes were assessed after six months. Correlations between peak exercise outcomes and the six-minute walk test distance were also examined.</p><p><strong>Results: </strong>The peak outcomes of oxygen uptake, work rate and heart rate at baseline were lower (all p < 0.001) than expected in both adults and children. Peak oxygen uptake expressed as percent predicted was 62 ± 20% and 49 ± 24% in adults and children, respectively. No changes were observed across six months for peak exercise outcomes in either group. A moderately strong positive correlation was observed for peak work rate and six-minute walk test distance among adults (r_s = 0.75, p < 0.001) and children (r_s = 0.64, p = 0.008).</p><p><strong>Conclusion: </strong>Exercise capacity is diminished in adults and children with RYR1-related myopathies yet remains stable over six months. The six-minute walk test distance had a direct relationship to peak exercise work rate in adults and children. Exercise capacity testing may be informative for individualizing exercise regimens for persons with RYR1-related myopathies. This study was registered with www.</p><p><strong>Clinicaltrials: </strong>gov (NCT02362425) on February 12, 2015.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"485"},"PeriodicalIF":3.5,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12461967/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145137521","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":"Prenatal diagnosis of fetuses with renal abnormalities: a retrospective analysis of 329 Chinese cases.","authors":"Yayun Qin, Bo Wang, Yuanyuan Zhu, Lijun Liu, Nian Liu, Yanyi Yao, Hui Li, Runhong Xu, Chengcheng Zhang, Jieping Song","doi":"10.1186/s13023-025-04001-x","DOIUrl":"10.1186/s13023-025-04001-x","url":null,"abstract":"<p><strong>Background: </strong>There is no clear guidance on prenatal diagnostic testing strategies for congenital renal anomalies. Therefore, this study aims to investigate the retrospective analysis of ultrasound and genetic diagnostic results in cases of fetal renal abnormalities and to establish genotype-phenotype correlations.</p><p><strong>Methods: </strong>A total of 329 fetuses with renal abnormalities that underwent prenatal diagnostic testing from January 2020 to April 2023 were recruited in this study. These cases were classified into 11 subgroups based on their ultrasound diagnosis. All cases underwent chromosomal microarray analysis (CMA) or copy number variation sequencing (CNV-seq), with subsequent whole exome sequencing (WES) conducted on select CMA/CNV-seq negative cases, subject to parental consent for further testing targeting monogenic variations.</p><p><strong>Results: </strong>Of the 329 cases analyzed, CMA/CNV-seq detected chromosomal abnormalities in 31 cases, with a detection rate of 9.4% (31/329). The most common abnormality was 17q12 deletion, accounting for 29% of the positive cases (9/31) and 2.7% of the total cases (9/329). WES was conducted on 76 cases (76/298, 25.5%), revealing 16 monogenic variants, and 2 CNVs in 12 cases (15.8%). An overall positive diagnostic yield of 13.1% (43/329) was obtained in the pipeline of combinational CMA/CNV-seq and WES analysis. Ciliary genes (TMEM67, NPHP3, CEP290, BBS2, and TTC8) were frequently implicated by WES. Several genotype-phenotype correlations emerged, including (1) hyperechogenic kidneys associated with 17q12 deletion, (2) renal dysplasia, renal cysts, hydronephrosis, ectopic kidney, and renal duplication with chromosomal abnormalities, (3) unilateral renal agenesis and polycystic kidneys with monogenic variants.</p><p><strong>Conclusion: </strong>This study reveals genotype-phenotype correlations in fetal renal abnormalities, informing prenatal counseling regarding diagnostic testing options and expected outcomes.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"486"},"PeriodicalIF":3.5,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12462046/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145137964","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":"Impact of brief telehealth interventions on parental stress and challenging behaviors of children with fragile X syndrome.","authors":"María Francisca Miranda, Víctor Faundes, María Angélica Alliende, Lorena Santa María","doi":"10.1186/s13023-025-04019-1","DOIUrl":"10.1186/s13023-025-04019-1","url":null,"abstract":"<p><strong>Background: </strong>Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability (ID) with comorbid autism and several support requirements. Challenging behaviors are frequently reported as a main concern for parents and caregivers, who also experience increased stress levels. There is little evidence of telehealth parent-implemented intervention (PII) for this population. Our study focused on describing the impact that brief telehealth parent-implemented interventions had on the parental stress levels and challenging behaviors of children with FXS in a Latin American country.</p><p><strong>Methods: </strong>Thirteen caregivers were assessed pre- and postintervention with the Parenting Stress Index short form (PSI-SF), Motivation Assessment Scale (MAS), and Fragile-X-specific adaptation of the Aberrant Behavior Checklist-Community questionnaire (ABC-C_FX). Four telehealth sessions were developed with each participant to guide their intervention with their children with FXS. Statistical analysis was performed using paired t tests or Wilcoxon matched-pairs tests, and Pearson's and Spearman's correlations were used for comparisons. All the statistical analyses were performed using GraphPad Prism v8.3.0, and a two-tailed p value < 0.05 was considered to indicate statistical significance.</p><p><strong>Results: </strong>PSI-SF (TS_initial=85(52.5-97) vs. TS_final=55(27.5-90), p = 0.0117) and two MAS subscale frequencies of occurrence (scape_initial=10(4-12.5) vs. scape_final=3(0.5-8.5), p = 0.0146; tangible_initial =11.69 ± 8.27 vs. tangible_final=7.154 ± 6.56, p = 0.0146) significantly decreased. ABC-C_FX did not significantly differ. The LSI-SF was positively correlated with three ABC-C_FX subindexes (lethargy/withdrawal s = 0.719, p = 0.007; hyperactivity r = 0.682, p = 0.01; and irritability s = 0.69, p = 0.011).</p><p><strong>Conclusions: </strong>Telehealth parent-implemented interventions decreased parental stress and challenging behavior perception and increased feelings of parental competence. The PII benefits interventions for children with FXS and is a key aspect to consider in situations where movement, transfer and access to specialized professionals are difficult or interfered with in a particular region or because of a major sanitary alert.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"483"},"PeriodicalIF":3.5,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12461951/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145137585","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":"Ziclague^® (Alpinia Zerumbet oil) in patients with hereditary spastic paraplegia - the randomized controlled ZISPAST trial.","authors":"Fabricio Diniz de Lima, Katiane Raisa Servelhere, Maria Fernanda Ribeiro Bittar, Carelis González-Salazar, Alberto Rolim Muro Martinez, Tatiana Benaglia, Benilton de Sá Carvalho, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Anamarli Nucci, Marcondes Cavalcante França","doi":"10.1186/s13023-025-04007-5","DOIUrl":"10.1186/s13023-025-04007-5","url":null,"abstract":"<p><strong>Background: </strong>Spasticity is a hallmark of hereditary spastic paraplegia (HSP) and contributes to gait impairment. Alpinia zerumbet oil (Ziclague^®) is a topical anti-spastic agent approved in Brazil, but not yet explored in HSP. Then, it was designed a randomized, placebo-controlled, double-blind, crossover trial to evaluate the efficacy and safety of Ziclague^® in patients with HSP: the ZISPAST trial.</p><p><strong>Methods: </strong>Each participant was randomly assigned to receive 0.8 mL of Ziclague^® dermal applications (0.064 mL of Alpinia Zerumbet equally divided in each adductor magnus and each triceps surae) or placebo 0.9%. The primary endpoint was change from baseline in self-selected gait velocity and secondary endpoints included changes in maximal gait velocity, walking endurance, spasticity, muscle strength, Spastic Paraplegia Rating Scale, pain, fatigue, quality of life and post-treatment perceived change and general impression. Adverse events (AE) were also recorded.</p><p><strong>Results: </strong>Fifty-seven patients were enrolled, 37 (64.9%) of whom were men and 50 (87.7%) with pure phenotype. Mean age was 44 (± 11.6; range, 22 to 74), mean age of onset 23 (± 16.6; range, < 1 to 62) and mean disease duration 21 (± 13.1; range, 2 to 54) years. Compared to baseline, there were no significant between-group differences in primary and secondary outcomes. There were few AEs, all of them mild. Incidence of AE was similar between treatment arms (p = 0.56).</p><p><strong>Conclusions: </strong>Ziclague^® was safe in patients with HSP, but it was not able to improve gait velocity considering methods and protocol used.</p><p><strong>Trial registration number: </strong>U1111-1218-2539. Registered 28 August 2018, https://ensaiosclinicos.gov.br/rg/RBR-83xh37 .</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"481"},"PeriodicalIF":3.5,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12462302/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145138050","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":"Psychometric properties of perceived barriers to PKU treatment inventory in a Brazilian national sample.","authors":"Katia Irie Teruya, Eduardo Remor, Ida Vanessa Doederlein Schwartz","doi":"10.1186/s13023-025-03998-5","DOIUrl":"10.1186/s13023-025-03998-5","url":null,"abstract":"<p><strong>Background: </strong>Metabolic control in the phenylketonuria (PKU) population is challenging. Perceived barriers to treatment adherence have been shown to be associated with metabolic control outcomes. The objective of this study was to evaluate the psychometric properties of the Perceived Barriers to PKU Treatment Inventory with patients and caregivers in different regions of Brazil.</p><p><strong>Methods: </strong>This is a cross-sectional, observational, non-probability sampling study. The inventory has 25 dichotomous items and two versions, patients and caregivers. Data collection in the present study included online assessment (n = 241) and presential mode (n = 42). Sixty-three PKU patients and 220 caregivers of individuals with PKU participated in this study. Internal consistency reliability, convergent validity, known-group validity, and discriminant validity of both versions (patient and proxy report) were evaluated. Furthermore, score norms based on the current sample are presented. A content analysis of the responses recorded in the open-ended inventory was also conducted.</p><p><strong>Results: </strong>Adequate reliability and evidence for convergent validity, known- groups validity, and discriminant validity were observed in this sample. Optimal cutoff points were identified through ROC curves (score > 9 for the patient version and score > 6 for the caregiver-proxy version), allowing for the identification of the risk of poor metabolic control due to barriers to dietary adherence. Furthermore, the qualitative analysis showed the relevance of the 25 items and the importance of addressing socio-economic and health system factors that have a significant economic impact on patients' and families' lives.</p><p><strong>Conclusion: </strong>The findings indicate that the Perceived Barriers to PKU Treatment Inventory is valuable for screening barriers that may contribute to increasing the difficulty of treatment management. And to identify patients and caregivers who may require targeted support to improve dietary adherence and metabolic control.</p><p><strong>Clinical trial number: </strong>Not applicable.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"487"},"PeriodicalIF":3.5,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12461978/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145137942","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":"The impact of the COVID-19 pandemic on incidence and clinical presentation of thrombotic microangiopathies: data from a laboratory centralizing ADAMTS-13 testing in Quebec.","authors":"Clémence Merlen, Sandrine Thouzeau-Benghezal, Emmanuelle Pépin, Samuel Guay, Anne-Laure Lapeyraque, Alexandra Cambier, Georges-Etienne Rivard, Stéphan Troyanov, Arnaud Bonnefoy","doi":"10.1186/s13023-025-03960-5","DOIUrl":"10.1186/s13023-025-03960-5","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"480"},"PeriodicalIF":3.5,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12462063/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145138000","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":"Zebrafish models for congenital disorders of glycosylation (CDG): a systematic review.","authors":"N Gandoy-Fieiras, M I Quiroga, L Sánchez","doi":"10.1186/s13023-025-04016-4","DOIUrl":"10.1186/s13023-025-04016-4","url":null,"abstract":"<p><p>Glycosylation is a post-translational modification of proteins that involves the addition of glycan groups and is essential for their proper functionality. This highly complex process affects 70% of all human proteins. Mutations in genes involved in glycosylation pathways can lead to a group of rare genetic syndromes known as Congenital Disorders of Glycosylation (CDG). One of the workflows applied to study human diseases includes animal models, such as the zebrafish. This systematic review aims to explore the utility of the zebrafish model in studying congenital disorders of glycosylation. For this purpose, searches were conducted in PubMed, Web of Science, and Scopus using terms related to congenital disorders of glycosylation and zebrafish, covering studies published up to November 2024. A total of 36 articles were identified based on the inclusion criteria. The results provide a comprehensive overview of these studies. The analysis reveals that CDGs related to N-glycosylation are the most frequently studied, morpholinos are the predominant technique used, zebrafish glycosylation genes exhibit a high degree of homology with human genes, and zebrafish models successfully replicate many of the clinical features observed in human CDG patients. This review highlights that zebrafish is a valuable strategy for studying CDG, offering important insights into the pathophysiology of these disorders and contributing to the development of potential therapeutic approaches.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"484"},"PeriodicalIF":3.5,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12462111/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145138002","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":"A visual analysis of research hotspots and trends on macrodactyly between 2005 and 2024.","authors":"Yuan Liu, Zong-You Yang, Chao-Jian Pang, Xiao-Bo Fan, Chen-Yang Zhao, Zhi-Kun Wei","doi":"10.1186/s13023-025-04011-9","DOIUrl":"10.1186/s13023-025-04011-9","url":null,"abstract":"<p><strong>Purpose: </strong>To conduct a visualization analysis of macrodactyly research from 2005 to 2024, providing a comprehensive overview of research trends, key contributors, and emerging topics.</p><p><strong>Methods: </strong>A visual analysis of macrodactyly related publications from 2005 to 2024 was conducted using the Web of Science Core Collection database. Publication trends, country and institutional contributions, author collaboration networks, and keyword co-occurrences were analyzed. Statistical analysis and visualization were performed using Microsoft Excel, R, VOSviewer, and CiteSpace.</p><p><strong>Results: </strong>One hundred and fifty-three publications were included. Annual publication trends showed fluctuations but an overall growth in interest over time, with notable growth from 2011 to 2014 peaking at 15 publications in 2014. The United States led with 128 publications, followed by China (60), Italy (40), Japan (36), and Turkey (27), with prominent institutions such as Mayo Clinic and Harvard University playing pivotal roles. Key authors like Dr. Marybeth Ezaki, working with the team at Texas Scottish Rite Hospital for Children, made substantial contributions to establishing diagnostic frameworks. Most importantly, keyword analysis revealed a fundamental shift in research focus from clinical and surgical themes (represented by keywords such as \"foot,\" \"hand,\" and \"osteotomy\" in early periods) to molecular and genetic investigations (characterized by \"PIK3CA,\" \"activating mutations,\" and \"overgrowth\" in recent years). The strongest citation burst was \"overgrowth\" (2016-2020), followed by genetic-related terms, with \"activating mutations\" representing the most recent trend (2020-2024), indicating increasing emphasis on PIK3CA mutations as the current research hotspot.</p><p><strong>Conclusion: </strong>This study highlights the evolution of macrodactyly research and reveals fluctuating publication trends and substantial contributions from key countries, authors, and institutions. The transition from clinical and surgical approaches to molecular and genetic investigations underscores advancements in the field. Future research should prioritize integrating genetic findings with clinical applications and advancing diagnostics and treatment strategies.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"489"},"PeriodicalIF":3.5,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12462217/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145138237","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":"Xanthogranulomatous osteomyelitis of the jaw in a young boy: a case report.","authors":"Bloch-Maier Kevin, Dridi Sophie-Myriam, Sulukdjian Arek, Ejeil Anne-Laure","doi":"10.1186/s13023-025-04010-w","DOIUrl":"10.1186/s13023-025-04010-w","url":null,"abstract":"<p><p>Xanthogranulomatous inflammation is a rare chronic inflammatory condition. It has been described in the long bones, and can affect various organs, including the salivary glands, gallbladder, kidneys, and gastrointestinal tract. The diagnosis is made throught histopathology which reveales foamy macrophages alongside polymorphonuclear leukocytes, plasma cells, and polyclonal lymphocytes arranged in a mosaic-like pattern. Here, we present the case of a 16-year-old boy in good general health who was referred by his orthodontist to the oral surgery department at Bretonneau Hospital for an asymptomatic multipartite image of the left mandibular angle that was discovered incidentally on a panoramic radiograph. The clinical examination was unremarkable. Cone beam computed tomography revealed a multipartite osteolytic lesion of the left mandibular angle, but this that was not specific enough for a diagnosis. Magnetic resonance imaging ruled out a vascular malformation. A biopsy revealed xanthogranulomatous osteomyelitis. In summary, this is the second case of xanthogranulomatous osteomyelitis localised to the mandible. This highlights a crucial point : radiological images of xanthogranulomatous osteomyelitis do not allow for a diagnosis; a biopsy is essential to rule out an aggressive or a malignant tumor.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"488"},"PeriodicalIF":3.5,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12462011/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145137996","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":"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}