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Research Publications

Our publications cover a wide range of topics, including the latest research on diagnostic tools, innovative therapies, and management strategies for rare vascular diseases. This page provides a list of publications from the Vascular Anomalies Working Group (VASCA-WG) to help researchers and healthcare professionals stay up-to-date on the latest developments in the field.

Results (13)
Preliminary results of the European multicentric phase III VASE trial regarding sirolimus in slow-flow vascular malformations
November 10 2023

Seront E, Van Damme A, Legrand C, Bisdorff-Bresson A, Orcel P, Funck-Brentano T, Sevestre MA, Dompmartin A, Quere I, Brouillard P, Revencu N, De Bortoli M, Hammer F, Clapuyt P, Dumitriu D, Vikkula M, Boon LM. Preliminary results of the European multicentric phase III trial regarding sirolimus in slow-flow vascular malformations. JCI Insight. 2023 Nov 8;8(21):e173095. doi: 10.1172/jci.insight.173095. PMID: 37937645.

A case report of sirolimus use in early fetal management of lymphatic malformation
June 05 2023

Seront E, Biard J.M, Van Damme A, Revencu N, Lengelé B, Schmitz S, de Toeuf C, Clapuyt P, Veyckemans F, Prégardien C, Vikkula M, Bernard P, Boon Laurence M. A case report of sirolimus use in early fetal management of lymphatic malformation. Nat Cardiovasc Res (2023). https://doi.org/10.1038/s44161-023-00280-4

RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation
March 29 2023

Revencu N, Fastre E, Ravoet M, Helaers R, Brouillard P, Bisdorff-Bresson A, Chung CWT, Gerard M, Dvorakova V, Irvine AD, Boon LM, Vikkula M. RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation. J Med Genet. 2020 Jan;57(1):48-52. doi: 10.1136/jmedgenet-2019-106024. Epub 2019 Jul 12. PMID: 31300548.

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling
March 29 2023

Amyere M, Revencu N, Helaers R, Pairet E, Baselga E, Cordisco M, Chung W, Dubois J, Lacour JP, Martorell L, Mazereeuw-Hautier J, Pyeritz RE, Amor DJ, Bisdorff A, Blei F, Bombei H, Dompmartin A, Brooks D, Dupont J, González-Enseñat MA, Frieden I, Gérard M, Kvarnung M, Hanson-Kahn AK, Hudgins L, Léauté-Labrèze C, McCuaig C, Metry D, Parent P, Paul C, Petit F, Phan A, Quere I, Salhi A, Turner A, Vabres P, Vicente A, Wargon O, Watanabe S, Weibel L, Wilson A, Willing M, Mulliken JB, Boon LM, Vikkula M. Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling. Circulation. 2017 Sep 12;136(11):1037-1048. doi: 10.1161/CIRCULATIONAHA.116.026886. Epub 2017 Jul 7. PMID: 28687708.

Development of an international core outcome set for peripheral vascular malformations: the OVAMA project
March 29 2023

Horbach SER, van der Horst CMAM, Blei F, van der Vleuten CJM, Frieden IJ, Richter GT, Tan ST, Muir T, Penington AJ, Boon LM, Spuls PI; OVAMA Consensus Group. Development of an international core outcome set for peripheral vascular malformations: the OVAMA project. Br J Dermatol. 2018 Feb;178(2):473-481. doi: 10.1111/bjd.16029. Epub 2018 Jan 19. PMID: 28986976.

Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations
March 29 2023

Soblet J, Kangas J, Nätynki M, Mendola A, Helaers R, Uebelhoer M, Kaakinen M, Cordisco M, Dompmartin A, Enjolras O, Holden S, Irvine AD, Kangesu L, Léauté-Labrèze C, Lanoel A, Lokmic Z, Maas S, McAleer MA, Penington A, Rieu P, Syed S, van der Vleuten C, Watson R, Fishman SJ, Mulliken JB, Eklund L, Limaye N, Boon LM, Vikkula M. Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations. J Invest Dermatol. 2017 Jan;137(1):207-216. doi: 10.1016/j.jid.2016.07.034. Epub 2016 Aug 9. PMID: 27519652.

Case report study of thalidomide therapy in 18 patients with severe arteriovenous malformations
June 10 2022

Boon L.M, Dekeuleneer V, Coulie J, Marot L, Bataille A.C, Hammer F, Clapuyt P, Jeanjean A, Dompmartin A, Vikkula M. Case report study of thalidomide therapy in 18 patients with severe arteriovenous malformations. Nat Cardiovasc Res 1, 562–567 (2022). https://doi.org/10.1038/s44161-022-00080-2

The VASCERN-VASCA working group diagnostic and management pathways for severe and/or rare infantile hemangiomas
April 27 2022

Diociaiuti A, Baselga E, Boon LM, Dompmartin A, Dvorakova V, El Hachem M, Gasparella P, Haxhija E, Ghaffarpour N, Kyrklund K, Irvine AD, Kapp FG, Rößler J, Salminen P, van den Bosch C, van der Vleuten C, Kool LS, Vikkula M. The VASCERN-VASCA working group diagnostic and management pathways for severe and/or rare infantile hemangiomas. Eur J Med Genet. 2022 Jun;65(6):104517. doi: 10.1016/j.ejmg.2022.104517. Epub 2022 Apr 27. PMID: 35487416.

Efficacy of Sirolimus in Patients Requiring Tracheostomy for Life-Threatening Lymphatic Malformation of the Head and Neck: A Report From the European Reference Network
September 30 2021

Holm A, Te Loo M, Schultze Kool L, Salminen P, Celis V, Baselga E, Duignan S, Dvorakova V, Irvine AD, Boon LM, Vikkula M, Ghaffarpour N, Niemeyer CM, Rössler J, Kapp FG. Efficacy of Sirolimus in Patients Requiring Tracheostomy for Life-Threatening Lymphatic Malformation of the Head and Neck: A Report From the European Reference Network. Front Pediatr. 2021 Sep 30;9:697960. doi: 10.3389/fped.2021.697960. PMID: 34660476; PMCID: PMC8515018.

Severe adverse events during sirolimus “off-label” therapy for vascular anomalies
February 13 2021

Rössler J, Baselga E, Davila V, Celis V, Diociaiuti A, El Hachem M, Mestre S, Haeberli D, Prokop A, Hanke C, Loichinger W, Quéré I, Baumgartner I, Niemeyer CM, Kapp FG. Severe adverse events during sirolimus “off-label” therapy for vascular anomalies. Pediatr Blood Cancer. 2021 Aug;68(8):e28936. doi: 10.1002/pbc.28936. Epub 2021 Feb 13. PMID: 33580918.

New and Emerging Targeted Therapies for Vascular Malformations
June 15 2020

Van Damme A, Seront E, Dekeuleneer V, Boon LM, Vikkula M. New and Emerging Targeted Therapies for Vascular Malformations. Am J Clin Dermatol. 2020 Oct;21(5):657-668. doi: 10.1007/s40257-020-00528-w. PMID: 32557381.

The Infantile Hemangioma Referral Score: A Validated Tool for Physicians
April 01 2020

Léauté-Labrèze C, Baselga Torres E, Weibel L, Boon LM, El Hachem M, van der Vleuten C, Roessler J, Troilius Rubin A. The Infantile Hemangioma Referral Score: A Validated Tool for Physicians. Pediatrics. 2020 Apr;145(4):e20191628. doi: 10.1542/peds.2019-1628. Epub 2020 Mar 11. PMID: 32161112.

A Clinical Feasibility Study To Image Angiogenesis in Patients With Arteriovenous Malformations Using 68Ga-RGD PET/CT
September 13 2019

Lobeek D, Bouwman FCM, Aarntzen EHJG, Molkenboer-Kuenen JDM, Flucke UE, Nguyen HL, Vikkula M, Boon LM, Klein W, Laverman P, Oyen WJG, Boerman OC, Terry SYA, Schultze Kool LJ, Rijpkema M. A Clinical Feasibility Study to Image Angiogenesis in Patients with Arteriovenous Malformations Using 68Ga-RGD PET/CT. J Nucl Med. 2020 Feb;61(2):270-275. doi: 10.2967/jnumed.119.231167. Epub 2019 Sep 13. PMID: 31519800; PMCID: PMC7100027.

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