|
|||||
|
|
EGFR inhibition for metastasized cutaneous squamous cell carcinoma in dystrophic epidermolysis bullosa |
|
| Authors: | Diociaiuti Andrea Steinke Holger Nyström Alexander Schwieger-Briel Agnes Meiss Frank Pfannenberg Christina Bruckner-Tuderman Leena Ruf Juri De Vito Rita El Hachem May Kiritsi Dimitra |
| Affiliation: | 1.Department of Clinical Genetics and Cardiology and VASCERN HTAD European Reference Centre, Erasmus MC, University Medical Center Rotterdam, Wytemaweg 80, P.O. Box 2040, 3000 CA, Rotterdam, The Netherlands ;2.VASCERN HTAD European Reference Centre, Ghent, Belgium ;3.Center for Inherited Cardiovascular Diseases and VASCERN HTAD European Reference Centre, IRCCS Foundation Policlinico San Matteo, Pavia, Italy ;4.Center of Medical Genetics and VASCERN HTAD European Reference Centre, University Hospital of Antwerp University of Antwerp, Antwerp, Belgium ;5.Department of Clinical Genetics and Cardiology and VASCERN HTAD European Reference Centre, Radboud university medical center, Nijmegen, Netherlands ;6.Department of Clinical Genetics and Department of Molecular medicine and Surgery and VASCERN HTAD European Reference Centre, Karolinska University Hospital, Karolinska Institute, Stockholm, Sweden ;7.VASCERN Patient Group (ePAG) and Swedish Marfan organization and VASCERN HTAD European Reference Centre, Färjestaden, Sweden ;8.Department of Cardiology, and VASCERN HTAD European Reference Centre, Academic Medical Center, Amsterdam, Netherlands ;9.Heart and Vascular Center and VASCERN HTAD European Reference Centre, Semmelweis University, Budapest, Hungary ;10.Regional Tuscany Reference Center for Marfan Syndrome and related disorders and VASCERN HTAD European Reference Centre, Careggi Hospital, University of Florence, Florence, Italy ;11.Servei de Cardiologia and VASCERN HTAD European Reference Centre, Hospital Universitari Vall d’Hebron, CIBER-CV, Barcelona, Spain ;12.South East Thames Regional Genetics Service and VASCERN HTAD European Reference Centre, Guy’s Hospital, London, UK ;13.Centro Malattie Rare Cardilogiche – Marfan Clinic and VASCERN HTAD European Reference Centre, Azienda Socio Sanitaria Territoriale Fatebenefratelli – Sacco Milan, Milan, Italy ;14.Department of Vascular Medicine, Department of General and Interventional Cardiology and VASCERN HTAD European Reference Centre, University Heart Center Hamburg, University Medical Center Hamburg-Eppendorf, Hamburg, Germany ;15.CRMR Marfan Syndrome and related disorders, and VASCERN HTAD European Reference Centre Service de cardiologie, AP-HP, Hôpital Bichat-Claude Bernard, Paris, France ;16.INSERM U1148 LVTS and VASCERN HTAD European Reference Centre, Université Paris, Paris, France ;17.Department of Cardiology and Center for Medical Genetics Ghent and VASCERN HTAD European Reference Centre, Ghent University Hospital, Ghent, Belgium ; |
| Abstract: | The ACTA2 gene encodes for smooth muscle specific α-actin, a critical component of the contractile apparatus of the vascular smooth muscle cell. Pathogenic variants in the ACTA2 gene are the most frequently encountered genetic cause of non-syndromic hereditary thoracic aortic disease (HTAD). Although thoracic aortic aneurysm and/or dissection is the main clinical manifestation, a variety of occlusive vascular disease and extravascular manifestations occur in ACTA2-related vasculopathy. Current data suggest possible mutation-specific manifestations of vascular and extra-aortic traits. Despite its relatively high prevalence, comprehensive recommendations on the care of patients and families with pathogenic variants in ACTA2 have not yet been established. We aimed to develop a consensus document to provide medical guidance for health care professionals involved in the diagnosis and treatment of patients and relatives with pathogenic variants in ACTA2. The HTAD Working Group of the European Reference Network for Rare Vascular Diseases (VASCERN) convened to review current literature and discuss expert opinions on clinical management of ACTA2 related vasculopathy. This consensus statement summarizes our recommendations on diagnosis, monitoring, treatment, pregnancy, genetic counselling and testing in patients with ACTA2-related vasculopathy. However, there is a clear need for additional prospective multicenter studies to further define proper guidelines. |
| Keywords: | |
| 本文献已被 SpringerLink 等数据库收录！ | |