2023
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
