{"title":"淋巴畸形重访:遗传学、临床和未来方向。","authors":"Jian Fransén, Sofia Frisk, Nader Ghaffarpour","doi":"10.1016/j.lpm.2025.104293","DOIUrl":null,"url":null,"abstract":"<p><p>The clinical management of lymphatic malformations presents challenges due to their rarity, variable presentation, and the potential for recurrence. Dissemination of the latest knowledge in lymphatic malformations is needed to streamline referral pathways and possibly improve patient outcomes. This paper provides a narrative review of the latest developments in aetiopathogenesis, diagnosis and management of lymphatic malformations. Multidisciplinary recommendations from the European Reference Network on Rare Multisystemic Vascular Diseases, Vascular Anomalies working group sets the basis for this review. A literature search was conducted to include the latest research based on authors' preferences. Understanding the aetiopathogenesis of lymphatic malformations is important, as new genetic insights can dictate management strategies. Advancements in diagnostics allow for better differentiation between malformation types and imaging of anatomical infiltrations, where treatment options differ and are more commonly multimodal. Further systematic studies are needed on larger study populations, such as prospective trials and meta-analyses, to improve evidence-based practice.</p>","PeriodicalId":20530,"journal":{"name":"Presse Medicale","volume":" ","pages":"104293"},"PeriodicalIF":3.2000,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Lymphatic malformations revisited: genetics, clinics and future directions.\",\"authors\":\"Jian Fransén, Sofia Frisk, Nader Ghaffarpour\",\"doi\":\"10.1016/j.lpm.2025.104293\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>The clinical management of lymphatic malformations presents challenges due to their rarity, variable presentation, and the potential for recurrence. Dissemination of the latest knowledge in lymphatic malformations is needed to streamline referral pathways and possibly improve patient outcomes. This paper provides a narrative review of the latest developments in aetiopathogenesis, diagnosis and management of lymphatic malformations. Multidisciplinary recommendations from the European Reference Network on Rare Multisystemic Vascular Diseases, Vascular Anomalies working group sets the basis for this review. A literature search was conducted to include the latest research based on authors' preferences. Understanding the aetiopathogenesis of lymphatic malformations is important, as new genetic insights can dictate management strategies. Advancements in diagnostics allow for better differentiation between malformation types and imaging of anatomical infiltrations, where treatment options differ and are more commonly multimodal. Further systematic studies are needed on larger study populations, such as prospective trials and meta-analyses, to improve evidence-based practice.</p>\",\"PeriodicalId\":20530,\"journal\":{\"name\":\"Presse Medicale\",\"volume\":\" \",\"pages\":\"104293\"},\"PeriodicalIF\":3.2000,\"publicationDate\":\"2025-05-29\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Presse Medicale\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1016/j.lpm.2025.104293\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Presse Medicale","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1016/j.lpm.2025.104293","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
Lymphatic malformations revisited: genetics, clinics and future directions.
The clinical management of lymphatic malformations presents challenges due to their rarity, variable presentation, and the potential for recurrence. Dissemination of the latest knowledge in lymphatic malformations is needed to streamline referral pathways and possibly improve patient outcomes. This paper provides a narrative review of the latest developments in aetiopathogenesis, diagnosis and management of lymphatic malformations. Multidisciplinary recommendations from the European Reference Network on Rare Multisystemic Vascular Diseases, Vascular Anomalies working group sets the basis for this review. A literature search was conducted to include the latest research based on authors' preferences. Understanding the aetiopathogenesis of lymphatic malformations is important, as new genetic insights can dictate management strategies. Advancements in diagnostics allow for better differentiation between malformation types and imaging of anatomical infiltrations, where treatment options differ and are more commonly multimodal. Further systematic studies are needed on larger study populations, such as prospective trials and meta-analyses, to improve evidence-based practice.
期刊介绍:
Seule revue médicale "généraliste" de haut niveau, La Presse Médicale est l''équivalent francophone des grandes revues anglosaxonnes de publication et de formation continue.
A raison d''un numéro par mois, La Presse Médicale vous offre une double approche éditoriale :
- des publications originales (articles originaux, revues systématiques, cas cliniques) soumises à double expertise, portant sur les avancées médicales les plus récentes ;
- une partie orientée vers la FMC, vous propose une mise à jour permanente et de haut niveau de vos connaissances, sous forme de dossiers thématiques et de mises au point dans les principales spécialités médicales, pour vous aider à optimiser votre formation.