2021
Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations.
Brouillard P, Schlögel MJ, Homayun Sepehr N, Helaers R, Queisser A, Fastré E, Boutry S, Schmitz S, Clapuyt P, Hammer F, Dompmartin A, Weitz-Tuoretmaa A, Laranne J, Pasquesoone L, Vilain C, Boon LM, Vikkula M. Orphanet J Rare Dis. 2021 Jun 10;16(1):267. doi: 10.1186/s13023-021-01898-y. PMID: 34112235
A prospective multicenter study of sirolimus for complicated vascular anomalies.
Ji Y, Chen S, Yang K, Zhou J, Zhang X, Jiang X, Xu X, Lu G, Qiu L, Kong F, Zhang Y. J Vasc Surg. 2021 May 31:S0741-5214(21)00838-7. doi: 10.1016/j.jvs.2021.04.071. Online ahead of print. PMID: 34082006
How we approach the diagnosis and management of complex lymphatic anomalies.
Ricci KW, Iacobas I. Pediatr Blood Cancer. 2021 Apr 12:e28985. doi: 10.1002/pbc.28985. Online ahead of print. PMID: 33844431
Overexpression Prox1 in HemECs resembles Kaposiform hemangioendothelioma and cytotoxicity of sirolimus in vitro.
Wang J, Han Q, Yan H, Yao W, Wang Z, Li K. J Pediatr Surg. 2021 Mar 26:S0022-3468(21)00257-8. doi: 10.1016/j.jpedsurg.2021.03.023. Online ahead of print. PMID: 33865602
Long-term outcomes of pediatric and young adult patients receiving radiotherapy for nonmalignant vascular anomalies.
Liu KX, Lamba N, Marcus KJ, Sandler ES, Gold SH, Margolin JF, Haas-Kogan DA, Adams DM. Pediatr Blood Cancer. 2021 Jun;68(6):e28955. doi: 10.1002/pbc.28955. Epub 2021 Mar 23. PMID: 33754454
Severe adverse events during sirolimus "off-label" therapy for vascular anomalies.
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. Pediatr Blood Cancer. 2021 Feb 13:e28936. doi: 10.1002/pbc.28936. Online ahead of print. PMID: 33580918
Dysregulated miRNAs in bone cells of patients with Gorham-Stout disease.
Rossi M, Rana I, Buonuomo PS, Battafarano G, Mariani E, D'Agostini M, Porzio O, De Martino V, Minisola S, Macchiaiolo M, De Vito R, Vecchio D, Gonfiantini MV, Jenkner A, Bartuli A, Del Fattore A. FASEB J. 2021 Mar;35(3):e21424. doi: 10.1096/fj.202001904RR. PMID: 33609323
Characterization of kaposiform lymphangiomatosis tissue-derived cells.
Nozawa A, Ozeki M, Yasue S, Endo S, Noguchi K, Kanayama T, Tomita H, Aoki Y, Ohnishi H. Pediatr Blood Cancer. 2021 Apr 29:e29086. doi: 10.1002/pbc.29086. Online ahead of print. PMID: 33913609
Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth.
Cottrell CE, Bender NR, Zimmermann MT, Heusel JW, Corliss M, Evenson MJ, Magrini V, Corsmeier DJ, Avenarius M, Dudley JN, Johnston JJ, Lindhurst MJ, Vigh-Conrad K, Davies OMT, Coughlin CC, Frieden IJ, Tollefson M, Zaenglein AL, Ciliberto H, Tosi LL, Semple RK, Biesecker LG, Drolet BA. Genet Med. 2021 May 26. doi: 10.1038/s41436-021-01211-z. Online ahead of print. PMID: 34040190
KRAS-driven model of Gorham-Stout disease effectively treated with trametinib.
Homayun Sepehr N, McCarter AL, Helaers R, Galant C, Boon LM, Brouillard P, Vikkula M, Dellinger MT. JCI Insight. 2021 Jun 22:149831. doi: 10.1172/jci.insight.149831. Online ahead of print. PMID: 34156985
Lymphatic Malformations: Genetics, Mechanisms and Therapeutic Strategies.
Mäkinen T, Boon LM, Vikkula M, Alitalo K. Circ Res. 2021 Jun 25;129(1):136-154. doi: 10.1161/CIRCRESAHA.121.318142. Epub 2021 Jun 24. PMID: 34166072
Genetic Basis and Therapies for Vascular Anomalies.
Queisser A, Seront E, Boon LM, Vikkula M. Circ Res. 2021 Jun 25;129(1):155-173. doi: 10.1161/CIRCRESAHA.121.318145. Epub 2021 Jun 24. PMID: 34166070
How we approach the diagnosis and management of complex lymphatic anomalies.
Ricci KW, Iacobas I. Pediatr Blood Cancer. 2021 Apr 12:e28985. doi: 10.1002/pbc.28985. Online ahead of print. PMID: 33844431
Stimulation of Treg Cells to Inhibit Osteoclastogenesis in Gorham-Stout Disease.
Rossi M, Rana I, Buonuomo PS, Battafarano G, De Martino V, D'Agostini M, Porzio O, Cipriani C, Minisola S, De Vito R, Vecchio D, Gonfiantini MV, Jenkner A, Bartuli A, Del Fattore A. Front Cell Dev Biol. 2021 Aug 27;9:706596. doi: 10.3389/fcell.2021.706596. eCollection 2021. PMID: 34513837
