2023
Preliminary results of the European multicentric phase III trial regarding sirolimus in slow-flow vascular malformations.
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.
JCI Insight. 2023 Nov 8;8(21):e173095. doi: 10.1172/jci.insight.173095.
MEK inhibition reduced vascular tumor growth and coagulopathy in a mouse model with hyperactive GNAQ.
Schrenk S, Bischoff LJ, Goines J, Cai Y, Vemaraju S, Odaka Y, Good SR, Palumbo JS, Szabo S, Reynaud D, Van Raamsdonk CD, Lang RA, Boscolo E.
Nat Commun. 2023 Apr 6;14(1):1929. doi: 10.1038/s41467-023-37516-7.
Ablation of Venous Malformations by Photothermal Therapy with Intravenous Gold Nanoshells.
Cullion K, Ostertag-Hill CA, Pan M, Timko B, Boscolo E, Kohane DS.
Nano Lett. 2023 Aug 9;23(15):7092-7099. doi: 10.1021/acs.nanolett.3c01945. Epub 2023 Jul 27.
The Lymphatic Endothelial Cell Secretome Inhibits Osteoblast Differentiation and Bone Formation.
Solorzano E, Alejo AL, Ball HC, Robinson GT, Solorzano AL, Safadi R, Douglas J, Kelly M, Safadi FF.
Cells. 2023 Oct 18;12(20):2482. doi: 10.3390/cells12202482.
EML4:ALK fusions in complex lymphatic malformations.
Apsel Winger B, Devine WP, Hsiao EC, Zapala M, Van Ziffle J, Gupta N, Frieden IJ, Shimano KA.
Pediatr Blood Cancer. 2023 Jun 28:e30516. doi: 10.1002/pbc.30516. Online ahead of print.
Mental and physical health of adult patients affected by complex vascular anomalies.
Kerr AM, Lin S, Sisk BA.
Patient Educ Couns. 2023 Dec;117:107987. doi: 10.1016/j.pec.2023.107987. Epub 2023 Sep 22.
Infectious complications of vascular anomalies treated with sirolimus: A systematic review.
Kalbfell R, Cohen-Cutler S, Grisham E, Bereitschaft C, Borst AJ, Green AM, Willis DN, Yaeger L, Blatt J, Sisk BA.
Pediatr Blood Cancer. 2024 Jan;71(1):e30758. doi: 10.1002/pbc.30758. Epub 2023 Nov 6.
No Association of Sirolimus with Wound Complications in Children With Vascular Anomalies.
Mehl SC, Whitlock RS, Ortega RM, Creden S, Iacobas I, Maricevich RS, Rosenberg TL, Rialon KL.
J Pediatr Surg. 2023 Aug;58(8):1555-1559. doi: 10.1016/j.jpedsurg.2022.11.009. Epub 2022 Nov 24.
Response to sirolimus in capillary lymphatic venous malformations and associated syndromes: Impact on symptomatology, quality of life, and radiographic response.
Engel ER, Hammill A, Adams D, Phillips RJ, Jeng M, Tollefson MM, Iacobas I, Schiff D, Greenberger S, Kelly M, Frieden I, Zaghloul N, Drolet B, Geddis A, Goldenberg D, Ricci K.
Pediatr Blood Cancer. 2023 Apr;70(4):e30215. doi: 10.1002/pbc.30215. Epub 2023 Jan 18.
Vascular Anomalies Care in the United States: A Cross-Sectional National Survey.
Cohen-Cutler S, Blatt J, Bayliff S, Iacobas I, Hammill A, Sisk BA.
J Pediatr. 2023 Oct;261:113579. doi: 10.1016/j.jpeds.2023.113579. Epub 2023 Jun 22
Alpelisib for treatment of patients with PIK3CA-related overgrowth spectrum (PROS).
Canaud G, Lopez Gutierrez JC, Irvine AD, Vabres P, Hansford JR, Ankrah N, Branle F, Papadimitriou A, Ridolfi A, O'Connell P, Turner S, Adams DM.
Genet Med. 2023 Aug 24;25(12):100969. doi: 10.1016/j.gim.2023.100969. Online ahead of print.
Hyperactive KRAS/MAPK signaling disrupts normal lymphatic vessel architecture and function.
Fernandes LM, Tresemer J, Zhang J, Rios JJ, Scallan JP, Dellinger MT.
Front Cell Dev Biol. 2023 Sep 25;11:1276333. doi: 10.3389/fcell.2023.1276333. eCollection 2023.
Genomic profiling informs diagnoses and treatment in vascular anomalies.
Li D, Sheppard SE, March ME, Battig MR, Surrey LF, Srinivasan AS, Matsuoka LS, Tian L, Wang F, Seiler C, Dayneka J, Borst AJ, Matos MC, Paulissen SM, Krishnamurthy G, Nriagu B, Sikder T, Casey M, Williams L, Rangu S, O'Connor N, Thomas A, Pinto E, Hou C, Nguyen K, Pellegrino da Silva R, Chehimi SN, Kao C, Biroc L, Britt AD, Queenan M, Reid JR, Napoli JA, Low DM, Vatsky S, Treat J, Smith CL, Cahill AM, Snyder KM, Adams DM, Dori Y, Hakonarson H.
Nat Med. 2023 Jun;29(6):1530-1539. doi: 10.1038/s41591-023-02364-x. Epub 2023 Jun 1.
Pathogenic variants in PIK3CA are associated with clinical phenotypes of kaposiform lymphangiomatosis, generalized lymphatic anomaly, and central conducting lymphatic anomaly.
Grenier JM, Borst AJ, Sheppard SE, Snyder KM, Li D, Surrey LF, Al-Ibraheemi A, Weber DR, Treat JR, Smith CL, Laje P, Dori Y, Adams DM, Acord M, Srinivasan AS.
Pediatr Blood Cancer. 2023 May 17:e30419. doi: 10.1002/pbc.30419. Online ahead of print.
Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition.
Sheppard SE, March ME, Seiler C, Matsuoka LS, Kim SE, Kao C, Rubin AI, Battig MR, Khalek N, Schindewolf E, O'Connor N, Pinto E, Priestley JR, Sanders VR, Niazi R, Ganguly A, Hou C, Slater D, Frieden IJ, Huynh T, Shieh JT, Krantz ID, Guerrero JC, Surrey LF, Biko DM, Laje P, Castelo-Soccio L, Nakano TA, Snyder K, Smith CL, Li D, Dori Y, Hakonarson H. JCI Insight. 2023 May 8;8(9):e155888. doi: 10.1172/jci.insight.155888.
Immune-interacting lymphatic endothelial subtype at capillary terminals drives lymphatic malformation.
Petkova M, Kraft M, Stritt S, Martinez-Corral I, Ortsäter H, Vanlandewijck M, Jakic B, Baselga E, Castillo SD, Graupera M, Betsholtz C, Mäkinen T. J Exp Med. 2023 Apr 3;220(4):e20220741. doi: 10.1084/jem.20220741. Epub 2023 Jan 23.
Responsiveness of the Patient-Reported Outcome Measure for Vascular Malformation (PROVAM) Questionnaire in Patients with Low-Flow Vascular Malformations.
Ring NY, England RW, Motaghi M, Garg T, Gong AJ, Gullotti DM, Khalil A, Bailey CR, Grossberg AL, Wu AW, Weiss CR. J Vasc Interv Radiol. 2023 Feb 7:S1051-0443(23)00125-2. doi: 10.1016/j.jvir.2023.01.036. Online ahead of print. PMID: 36758741
Complex Lymphatic Anomalies: Report on a Patient Registry Using the Latest Diagnostic Guidelines.
Andreoti TA, Berg S, Holm A, Angerer M, Oberlin M, Foeldi E, Baumgartner I, Niemeyer CM, Rössler J, Kapp FG. Lymphat Res Biol. 2023 Jan 27. doi: 10.1089/lrb.2022.0041. Online ahead of print.PMID: 36706428
Response to sirolimus in capillary lymphatic venous malformations and associated syndromes: Impact on symptomatology, quality of life, and radiographic response.
Engel ER, Hammill A, Adams D, Phillips RJ, Jeng M, Tollefson MM, Iacobas I, Schiff D, Greenberger S, Kelly M, Frieden I, Zaghloul N, Drolet B, Geddis A, Goldenberg D, Ricci K.
Pediatr Blood Cancer. 2023 Jan 18:e30215. doi: 10.1002/pbc.30215. Online ahead of print. PMID: 36651691
The VASCERN-VASCA working group diagnostic and management pathways for lymphatic malformations.
Ghaffarpour N, Baselga E, Boon LM, Diociaiuti A, Dompmartin A, Dvorakova V, El Hachem M, Gasparella P, Haxhija E, Kyrklund K, Irvine AD, Kapp FG, Rößler J, Salminen P, van den Bosch C, van der Vleuten C, Kool LS, Vikkula M. Eur J Med Genet. 2022 Dec;65(12):104637. doi: 10.1016/j.ejmg.2022.104637. Epub 2022 Oct 9.
PMID: 36223836
Alpelisib for the treatment of PIK3CA-related head and neck lymphatic malformations and overgrowth.
Wenger TL, Ganti S, Bull C, Lutsky E, Bennett JT, Zenner K, Jensen DM, Dmyterko V, Mercan E, Shivaram GM, Friedman SD, Bindschadler M, Drusin M, Perkins JN, Kong A, Bly RA, Dahl JP, Bonilla-Velez J, Perkins JA. Genet Med. 2022 Nov;24(11):2318-2328. doi: 10.1016/j.gim.2022.07.026. Epub 2022 Sep 6. PMID: 36066547
Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth.
Schönewolf-Greulich B, Karstensen HG, Hjortshøj TD, Jørgensen FS, Harder KM, Frevert S, Hove H, Diness BR. Eur J Med Genet. 2022 Oct;65(10):104590. doi: 10.1016/j.ejmg.2022.104590. Epub 2022 Aug 11. PMID: 35964931
Case Report: Progressive central conducting lymphatic abnormalities in the RASopathies. Two case reports, including successful treatment by MEK inhibition.
Gordon K, Moore M, Van Zanten M, Pearce J, Itkin M, Madden B, Ratnam L, Mortimer PS, Nagaraja R, Mansour S. Front Genet. 2022 Sep 27;13:1001105. doi: 10.3389/fgene.2022.1001105. eCollection 2022.
PMID: 36238151 Free PMC article.
Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations.
Hongo H, Miyawaki S, Teranishi Y, Mitsui J, Katoh H, Komura D, Tsubota K, Matsukawa T, Watanabe M, Kurita M, Yoshimura J, Dofuku S, Ohara K, Ishigami D, Okano A, Kato M, Hakuno F, Takahashi A, Kunita A, Ishiura H, Shin M, Nakatomi H, Nagao T, Goto H, Takahashi SI, Ushiku T, Ishikawa S, Okazaki M, Morishita S, Tsuji S, Saito N. Angiogenesis. 2023 Feb;26(1):37-52. doi: 10.1007/s10456-022-09846-5. Epub 2022 Jul 29. PMID: 35902510
The onset of PI3K-related vascular malformations occurs during angiogenesis and is prevented by the AKT inhibitor miransertib. Kobialka P, Sabata H, Vilalta O, Gouveia L, Angulo-Urarte A, Muixí L, Zanoncello J, Muñoz-Aznar O, Olaciregui NG, Fanlo L, Esteve-Codina A, Lavarino C, Javierre BM, Celis V, Rovira C, López-Fernández S, Baselga E, Mora J, Castillo SD, Graupera M. EMBO Mol Med. 2022 Jul 7;14(7):e15619. doi: 10.15252/emmm.202115619. Epub 2022 Jun 13. PMID: 35695059
Kaposiform lymphangiomatosis: Diagnosis, pathogenesis, and treatment.
McDaniel CG, Adams DM, Steele KE, Hammill AM, Merrow AC, Crane JE, Smith CL, Kozakewich HPW, Le Cras TD. Pediatr Blood Cancer. 2023 Jan 22:e30219. doi: 10.1002/pbc.30219. Online ahead of print. PMID: 36683202
Kaposiform Lymphangiomatosis: Pathologic Aspects in 43 Patients.
Perez-Atayde AR, Debelenko L, Al-Ibraheemi A, Eng W, Ruiz-Gutierrez M, O'Hare M, Croteau SE, Trenor CC 3rd, Boyer D, Balkin DM, Barclay SF, Hsi Dickie B, Liang MG, Chaudry G, Alomari AI, Mulliken JB, Adams DM, Kurek KC, Fishman SJ, Kozakewich HPW. Am J Surg Pathol. 2022 Jul 1;46(7):963-976. doi: 10.1097/PAS.0000000000001898. Epub 2022 Apr 7. PMID: 35385405
NRASQ61R mutation in human endothelial cells causes vascular malformations.
Boscolo E, Pastura P, Schrenk S, Goines J, Kang R, Pillis D, Malik P, Le Cras TD. Angiogenesis. 2022 Aug;25(3):331-342. doi: 10.1007/s10456-022-09836-7. Epub 2022 Apr 7. PMID: 35391614
