Pub Date : 2025-07-09DOI: 10.1016/j.lpm.2025.104300
Melina Tedesco, Andreas Schedl, Yasmine Neirijnck
The adrenal cortex is a vital endocrine organ that controls a wide range of biological parameters including metabolism, blood pressure and immune response, through the release of distinct steroid hormones. As adrenal diseases can be life-threatening, understanding their molecular underpinnings and developing novel therapeutic approaches are important goals. Organoids have emerged as powerful research tools to study human fundamental biological processes, model diseases and develop novel therapies. However, research on adrenocortical organoids has only been reported recently, with a shift in focus from the use of immortalized cell lines to the emerging use of stem cells. Initially, forced expression of NR5A1 was used, but the field has evolved to prioritize directed differentiation. To date, few protocols have been reported that allow the directed differentiation of pluripotent stem cells into adrenocortical cells.This review provides the developmental background knowledge required for developing such cell systems, reports on the present state of the art and discusses how the implementation of in vitro organoid/spheroid cultures in the adrenal field can expand our basic understanding of tissue function and influence preclinical research.
{"title":"Adrenocortical organoids: A promising tool for modelling human physiology and translational research","authors":"Melina Tedesco, Andreas Schedl, Yasmine Neirijnck","doi":"10.1016/j.lpm.2025.104300","DOIUrl":"10.1016/j.lpm.2025.104300","url":null,"abstract":"<div><div>The adrenal cortex is a vital endocrine organ that controls a wide range of biological parameters including metabolism, blood pressure and immune response, through the release of distinct steroid hormones. As adrenal diseases can be life-threatening, understanding their molecular underpinnings and developing novel therapeutic approaches are important goals. Organoids have emerged as powerful research tools to study human fundamental biological processes, model diseases and develop novel therapies. However, research on adrenocortical organoids has only been reported recently, with a shift in focus from the use of immortalized cell lines to the emerging use of stem cells. Initially, forced expression of NR5A1 was used, but the field has evolved to prioritize directed differentiation. To date, few protocols have been reported that allow the directed differentiation of pluripotent stem cells into adrenocortical cells.This review provides the developmental background knowledge required for developing such cell systems, reports on the present state of the art and discusses how the implementation of <em>in vitro</em> organoid/spheroid cultures in the adrenal field can expand our basic understanding of tissue function and influence preclinical research.</div></div>","PeriodicalId":20530,"journal":{"name":"Presse Medicale","volume":"54 4","pages":"Article 104300"},"PeriodicalIF":3.4,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144619921","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Type 1 Diabetes (T1D) is a highly complex and prevalent metabolic disease caused by dysfunctions of pancreatic islets. Over the past decade, diabetes research and treatments have focused on insulin restoration and glucose homeostasis, especially the regenerative approaches for stem cell based therapies for T1D. Nevertheless, unravelling the islet developmental processes and physiopathology of diabetes requires development of in vitro models that mimic the structure and function of islet of Langerhans.
Organoids have progressively revolutionized three-dimensional cell culture allowing development of more physiologically relevant models that recapitulate cellular interactions and responses more accurately.
Here, we provide insights into advanced islet organoid models focusing on their generation, characteristics, applications, and challenges. We discuss state-of-the-art tissue engineering strategies to recapitulate islet development and pancreatic niche microenvironment by exploring different cell sources of insulin-producing cells, including primary islet cells and cell line aggregation, transdifferentiation from adult somatic cells, and differentiation from stem cells. We discuss the significance of replicating the islet microenvironment through extracellular matrices and scaffolds, as well as vascular and immunomodulatory approaches. We highlight the potential of organ-on-chip technologies to closely recapitulate the complex microenvironment of pancreatic tissues providing platforms for disease modelling, drug screening and regenerative medicine. Despite the challenges, islet organoids combined with microfluidics represent a promising tool for the understanding of T1D pathogenesis and developing innovative therapies.
{"title":"Pancreatic islet organoids and organoids on-chip for type 1 diabetes","authors":"Mahira Mehanović , Mélanie Lopes , Sophia Coffy, Amandine Pitaval, Delphine Freida, Xavier Gidrol, Emily Tubbs","doi":"10.1016/j.lpm.2025.104302","DOIUrl":"10.1016/j.lpm.2025.104302","url":null,"abstract":"<div><div>Type 1 Diabetes (T1D) is a highly complex and prevalent metabolic disease caused by dysfunctions of pancreatic islets. Over the past decade, diabetes research and treatments have focused on insulin restoration and glucose homeostasis, especially the regenerative approaches for stem cell based therapies for T1D. Nevertheless, unravelling the islet developmental processes and physiopathology of diabetes requires development of <em>in vitro</em> models that mimic the structure and function of islet of Langerhans.</div><div>Organoids have progressively revolutionized three-dimensional cell culture allowing development of more physiologically relevant models that recapitulate cellular interactions and responses more accurately.</div><div>Here, we provide insights into advanced islet organoid models focusing on their generation, characteristics, applications, and challenges. We discuss state-of-the-art tissue engineering strategies to recapitulate islet development and pancreatic niche microenvironment by exploring different cell sources of insulin-producing cells, including primary islet cells and cell line aggregation, transdifferentiation from adult somatic cells, and differentiation from stem cells. We discuss the significance of replicating the islet microenvironment through extracellular matrices and scaffolds, as well as vascular and immunomodulatory approaches. We highlight the potential of organ-on-chip technologies to closely recapitulate the complex microenvironment of pancreatic tissues providing platforms for disease modelling, drug screening and regenerative medicine. Despite the challenges, islet organoids combined with microfluidics represent a promising tool for the understanding of T1D pathogenesis and developing innovative therapies.</div></div>","PeriodicalId":20530,"journal":{"name":"Presse Medicale","volume":"54 4","pages":"Article 104302"},"PeriodicalIF":3.4,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144619923","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pituitary deficiencies, or hypopituitarisms, are defined as insufficient production of one or more adenohypophyseal hormones (growth hormone, TSH, ACTH, LH-FSH and prolactin). Congenital hypopituitarism, a rare disease with severely disabling consequences, often takes the form of isolated hormone deficiencies, such as isolated growth hormone deficiency (GHD) or isolated ACTH deficiency (ACTHD), or combined pituitary hormone deficiencies (CPHD), when several pituitary hormones are affected. They are mainly the result of genetic mutations, developmental malformations or the harmful action of environmental factors during foetal development. The last two decades have seen the emergence of new in vitro models called organoids, which make it possible to partially recreate the development of an organ using pluripotent cells. Using human embryonic stem cells (hESCs) or induced human embryonic stem cells (hiPSCs), it has been possible to recreate various stages of hypothalamic-pituitary development, a complex mechanism requiring interaction between two embryonic structures of different origins, right up to the production of functional pituitary endocrine cells. Coupled with techniques for reprogramming patients' somatic cells, these organoids have made it possible to understand the cellular and molecular mechanisms leading to the pathogenicity of a mutation in the OTX2 gene, identified as being responsible for CPHD. Using the CRISPR-CAS9 gene-editing technique, they have also demonstrated that the endocrine phenotype of patients suffering from DAVID syndrome is indeed linked to a mutation in the NFKB2 gene, thereby identifying this gene as a central element in pituitary development. Finally, the ability of these organoids to present a secretory response to hypothalamic stimulation and the possibility of modulating these signals by mimicking feedback from the target organs suggest that they could be used therapeutically.
{"title":"Pituitary organoids as models for congenital pituitary deficiencies","authors":"Teddy Fauquier , Thi-Thom Mac , Frédéric Castinetti , Thierry Brue","doi":"10.1016/j.lpm.2025.104299","DOIUrl":"10.1016/j.lpm.2025.104299","url":null,"abstract":"<div><div>Pituitary deficiencies, or hypopituitarisms, are defined as insufficient production of one or more adenohypophyseal hormones (growth hormone, TSH, ACTH, LH-FSH and prolactin). Congenital hypopituitarism, a rare disease with severely disabling consequences, often takes the form of isolated hormone deficiencies, such as isolated growth hormone deficiency (GHD) or isolated ACTH deficiency (ACTHD), or combined pituitary hormone deficiencies (CPHD), when several pituitary hormones are affected. They are mainly the result of genetic mutations, developmental malformations or the harmful action of environmental factors during foetal development. The last two decades have seen the emergence of new <em>in vitro</em> models called organoids, which make it possible to partially recreate the development of an organ using pluripotent cells. Using human embryonic stem cells (hESCs) or induced human embryonic stem cells (hiPSCs), it has been possible to recreate various stages of hypothalamic-pituitary development, a complex mechanism requiring interaction between two embryonic structures of different origins, right up to the production of functional pituitary endocrine cells. Coupled with techniques for reprogramming patients' somatic cells, these organoids have made it possible to understand the cellular and molecular mechanisms leading to the pathogenicity of a mutation in the <em>OTX2</em> gene, identified as being responsible for CPHD. Using the CRISPR-CAS9 gene-editing technique, they have also demonstrated that the endocrine phenotype of patients suffering from DAVID syndrome is indeed linked to a mutation in the <em>NFKB2</em> gene, thereby identifying this gene as a central element in pituitary development. Finally, the ability of these organoids to present a secretory response to hypothalamic stimulation and the possibility of modulating these signals by mimicking feedback from the target organs suggest that they could be used therapeutically.</div></div>","PeriodicalId":20530,"journal":{"name":"Presse Medicale","volume":"54 4","pages":"Article 104299"},"PeriodicalIF":3.4,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144619924","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-06-13DOI: 10.1016/j.lpm.2025.104297
A. Dompmartin, J. Méry de Montigny , J.M. L'Orphelin
Background
VMs are congenital vascular anomalies are often the result of genetic mutations. Advances in genetics have revealed that certain Venous malformations (VMs) share mutations with cancers, specifically in the PI3K/AKT/mTOR proliferative pathways. This discovery has paved the way for targeted treatments, similar to those used in oncology. We aim to explore differences between VMs and cancers, particularly in therapeutic and diagnostic approaches.
Material and methods
We performed a systematic review of literature, up to June 2024. Articles has been classified in 3 topics: Clinical advances and prospects; Genomic concern and proliferation pathway and Therapeutics and issues: neoadjuvant strategy, adjuvant strategy. The primary outcome was to make comparison between issues in oncology and VMs.
Discussion
We identified genetic implications as, in some hereditary cases of VMs, the "two-hit" mechanism involves both a germline and a somatic mutation in the same gene, resulting in loss of function and the manifestation of the malformation. Regarding the Therapeutic Strategies and Comparison with Oncology, adjuvant and neoadjuvant seem to be promising in VMs. Lastly, treatment acceptability is a key issue for VM patients: tolerance to the side effects of anticancer drugs used for VMs is a major concern.
Conclusion
Wile VMs and cancers share some proliferative pathways and therapeutic targets, they differ in their growth dynamics and impact on surrounding tissues. The management of VMs is increasingly approached as a “chronic disease,” similar to oncology, but the benefit-risk balance and quality of life remain specific concerns.
{"title":"Theragnostic approach of venous malformations in 2025: Similarities and differences with oncology advances","authors":"A. Dompmartin, J. Méry de Montigny , J.M. L'Orphelin","doi":"10.1016/j.lpm.2025.104297","DOIUrl":"10.1016/j.lpm.2025.104297","url":null,"abstract":"<div><h3>Background</h3><div>VMs are congenital vascular anomalies are often the result of genetic mutations. Advances in genetics have revealed that certain Venous malformations (VMs) share mutations with cancers, specifically in the PI3K/AKT/mTOR proliferative pathways. This discovery has paved the way for targeted treatments, similar to those used in oncology. We aim to explore differences between VMs and cancers, particularly in therapeutic and diagnostic approaches.</div></div><div><h3>Material and methods</h3><div>We performed a systematic review of literature, up to June 2024. Articles has been classified in 3 topics: Clinical advances and prospects; Genomic concern and proliferation pathway and Therapeutics and issues: neoadjuvant strategy, adjuvant strategy. The primary outcome was to make comparison between issues in oncology and VMs.</div></div><div><h3>Discussion</h3><div>We identified genetic implications as, in some hereditary cases of VMs, the \"two-hit\" mechanism involves both a germline and a somatic mutation in the same gene, resulting in loss of function and the manifestation of the malformation. Regarding the <em>Therapeutic Strategies and Comparison with Oncology, adjuvant and neoadjuvant seem to be promising in VMs. Lastly, t</em>reatment acceptability is a key issue for VM patients: tolerance to the side effects of anticancer drugs used for VMs is a major concern.</div></div><div><h3>Conclusion</h3><div>Wile VMs and cancers share some proliferative pathways and therapeutic targets, they differ in their growth dynamics and impact on surrounding tissues. The management of VMs is increasingly approached as a “chronic disease,” similar to oncology, but the benefit-risk balance and quality of life remain specific concerns.</div></div>","PeriodicalId":20530,"journal":{"name":"Presse Medicale","volume":"54 3","pages":"Article 104297"},"PeriodicalIF":3.2,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144302742","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-06-09DOI: 10.1016/j.lpm.2025.104296
Julien Coulie , Miikka Vikkula , Laurence M. Boon
Peripheral arteriovenous malformations (AVMs) are rare, high-flow vascular anomalies caused by errors in vasculogenesis or angiogenesis, frequently driven by mutations in the RAS/RAF/MEK/ERK signaling pathway. These lesions exhibit progressive behavior, leading to diverse clinical presentations ranging from localized pain, swelling and important bleeding to severe systemic complications such as high-output cardiac failure. AVMs pose significant diagnostic and therapeutic challenges due to their heterogeneous nature and high recurrence rates. Accurate diagnosis relies on advanced imaging modalities, including Doppler ultrasonography, magnetic resonance imaging and angiography, and digital subtraction angiography, which provide critical insights into lesion extent and flow dynamics. Current management strategies involve a combination of preoperative embolization, surgical excision, and endovascular therapies. However, incomplete treatment frequently results in recurrence, emphasizing the need for complete nidus removal. Emerging antiangiogenic therapies, such as thalidomide and MEK inhibitors, show promise as adjuncts to invasive treatments, potentially reducing recurrence rates and enhancing long-term outcomes. This review highlights the need for standardized treatment protocols, integrating clinical, anatomical, and genetic insights. Syndromic AVMs require broader diagnostic and therapeutic considerations, while advances in molecular genetics pave the way for targeted pharmacologic therapies. Future research should focus on refining combination therapies and optimizing individualized care through multidisciplinary approaches. While challenges remain, these developments represent significant steps toward improving outcomes for patients with this complex and debilitating vascular anomaly.
{"title":"Peripheral arteriovenous malformations: Diagnosis and future prospects","authors":"Julien Coulie , Miikka Vikkula , Laurence M. Boon","doi":"10.1016/j.lpm.2025.104296","DOIUrl":"10.1016/j.lpm.2025.104296","url":null,"abstract":"<div><div>Peripheral arteriovenous malformations (AVMs) are rare, high-flow vascular anomalies caused by errors in vasculogenesis or angiogenesis, frequently driven by mutations in the RAS/RAF/MEK/ERK signaling pathway. These lesions exhibit progressive behavior, leading to diverse clinical presentations ranging from localized pain, swelling and important bleeding to severe systemic complications such as high-output cardiac failure. AVMs pose significant diagnostic and therapeutic challenges due to their heterogeneous nature and high recurrence rates. Accurate diagnosis relies on advanced imaging modalities, including Doppler ultrasonography, magnetic resonance imaging and angiography, and digital subtraction angiography, which provide critical insights into lesion extent and flow dynamics. Current management strategies involve a combination of preoperative embolization, surgical excision, and endovascular therapies. However, incomplete treatment frequently results in recurrence, emphasizing the need for complete nidus removal. Emerging antiangiogenic therapies, such as thalidomide and MEK inhibitors, show promise as adjuncts to invasive treatments, potentially reducing recurrence rates and enhancing long-term outcomes. This review highlights the need for standardized treatment protocols, integrating clinical, anatomical, and genetic insights. Syndromic AVMs require broader diagnostic and therapeutic considerations, while advances in molecular genetics pave the way for targeted pharmacologic therapies. Future research should focus on refining combination therapies and optimizing individualized care through multidisciplinary approaches. While challenges remain, these developments represent significant steps toward improving outcomes for patients with this complex and debilitating vascular anomaly.</div></div>","PeriodicalId":20530,"journal":{"name":"Presse Medicale","volume":"54 3","pages":"Article 104296"},"PeriodicalIF":3.2,"publicationDate":"2025-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144275801","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-05-30DOI: 10.1016/j.lpm.2025.104294
Stephanie Bowe , Veronika Dvorakova
Vascular anomalies can present both as the dominant or less prominent feature of multisystem syndromes. In this review, we describe some of the more notable disorders. They may arise as a consequence of a sporadic somatic mutation or less frequently, familial germline mutations. We discuss their clinical features focusing on the prominent vascular anomaly (e.g., infantile haemangioma, capillary malformation, venous malformation) as a first diagnostic clue, current understanding of their genetic basis and outline further investigations as well as management. Many of these syndromes present with variable and overlapping features and frequently pose a diagnostic challenge. We aim to highlight important clinical clues to facilitate distinguishing these syndromes and aid in appropriate management.
{"title":"Syndromic vascular anomalies: A challenge","authors":"Stephanie Bowe , Veronika Dvorakova","doi":"10.1016/j.lpm.2025.104294","DOIUrl":"10.1016/j.lpm.2025.104294","url":null,"abstract":"<div><div>Vascular anomalies can present both as the dominant or less prominent feature of multisystem syndromes. In this review, we describe some of the more notable disorders. They may arise as a consequence of a sporadic somatic mutation or less frequently, familial germline mutations. We discuss their clinical features focusing on the prominent vascular anomaly (e.g., infantile haemangioma, capillary malformation, venous malformation) as a first diagnostic clue, current understanding of their genetic basis and outline further investigations as well as management. Many of these syndromes present with variable and overlapping features and frequently pose a diagnostic challenge. We aim to highlight important clinical clues to facilitate distinguishing these syndromes and aid in appropriate management.</div></div>","PeriodicalId":20530,"journal":{"name":"Presse Medicale","volume":"54 3","pages":"Article 104294"},"PeriodicalIF":3.2,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144199902","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-05-29DOI: 10.1016/j.lpm.2025.104293
Jian Fransén , Sofia Frisk , Nader Ghaffarpour
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.
{"title":"Lymphatic malformations revisited: Genetics, clinics and future directions","authors":"Jian Fransén , Sofia Frisk , Nader Ghaffarpour","doi":"10.1016/j.lpm.2025.104293","DOIUrl":"10.1016/j.lpm.2025.104293","url":null,"abstract":"<div><div>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.</div></div>","PeriodicalId":20530,"journal":{"name":"Presse Medicale","volume":"54 3","pages":"Article 104293"},"PeriodicalIF":3.2,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144192074","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Vascular anomalies are a heterogenous group of diseases that include vascular tumours and vascular malformations. Over the past two decades, significant progress has been made in elucidating the genetic basis of these anomalies, leading to improved classification, management and genetic counselling. Major signalling pathways, such as RAS/MAPK/ERK, PI3K/AKT/mTOR, and G protein-coupled receptor pathways, have been identified as central to the pathogenesis of vascular anomalies. This article reviews the major types of vascular malformations, addresses the challenges associated with genetic testing and counselling, and explores the emerging potential for precision medicine in the treatment of these diseases.
{"title":"Genetic aspects of vascular malformations","authors":"Nicole Revencu , Julien Coulie , Laurence M. Boon , Miikka Vikkula","doi":"10.1016/j.lpm.2025.104295","DOIUrl":"10.1016/j.lpm.2025.104295","url":null,"abstract":"<div><div>Vascular anomalies are a heterogenous group of diseases that include vascular tumours and vascular malformations. Over the past two decades, significant progress has been made in elucidating the genetic basis of these anomalies, leading to improved classification, management and genetic counselling. Major signalling pathways, such as RAS/MAPK/ERK, PI3K/AKT/mTOR, and G protein-coupled receptor pathways, have been identified as central to the pathogenesis of vascular anomalies. This article reviews the major types of vascular malformations, addresses the challenges associated with genetic testing and counselling, and explores the emerging potential for precision medicine in the treatment of these diseases.</div></div>","PeriodicalId":20530,"journal":{"name":"Presse Medicale","volume":"54 3","pages":"Article 104295"},"PeriodicalIF":3.2,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144192073","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-05-29DOI: 10.1016/j.lpm.2025.104292
Eulalia Baselga, Luisa F. Montenegro Morillo
Capillary malformations are one of most common birthmarks and sometimes they represent a diagnosis challenge for the physician at first sight. New genetic findings during the last decade have allowanced the understanding of these birthmarks and the developing of more accurate treatments, although in most cases the treatment of choice is pulsed-dye laser with some exceptions. This overview will be focused on recognize and point out first assessment of nevus simplex, port-wine stain, reticulated and geographic capillary malformations, Klippel-Trenaunay syndrome, capillary malformations fast flow-arteriovenous malformation and cutis marmorata telagiectatic congenita.
{"title":"Capillary malformations updates on aetiopathogenesis, diagnosis, and management","authors":"Eulalia Baselga, Luisa F. Montenegro Morillo","doi":"10.1016/j.lpm.2025.104292","DOIUrl":"10.1016/j.lpm.2025.104292","url":null,"abstract":"<div><div>Capillary malformations are one of most common birthmarks and sometimes they represent a diagnosis challenge for the physician at first sight. New genetic findings during the last decade have allowanced the understanding of these birthmarks and the developing of more accurate treatments, although in most cases the treatment of choice is pulsed-dye laser with some exceptions. This overview will be focused on recognize and point out first assessment of nevus simplex, port-wine stain, reticulated and geographic capillary malformations, Klippel-Trenaunay syndrome, capillary malformations fast flow-arteriovenous malformation and cutis marmorata telagiectatic congenita.</div></div>","PeriodicalId":20530,"journal":{"name":"Presse Medicale","volume":"54 3","pages":"Article 104292"},"PeriodicalIF":3.2,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144192072","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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