2020
Kaposiform lymphangiomatosis effectively treated with MEK inhibition.
Foster JB, Li D, March ME, Sheppard SE, Adams DM, Hakonarson H, Dori Y. EMBO Mol Med. 2020 Sep 7;12(10):e12324. doi: 10.15252/emmm.202012324. Online ahead of print. PMID: 32894644
Thoracic duct embolization in kaposiform lymphangiomatosis.
Bundy JJ, Ootaki Y, McLean TW, Hays BS, Miller M, Downing T. J Vasc Surg Venous Lymphat Disord. 2020 Sep;8(5):864-868. doi: 10.1016/j.jvsv.2020.03.013. Epub 2020 Jul 9. PMID: 32653407
Kaposiform lymphangiomatosis treated with multimodal therapy improves coagulopathy and reduces blood angiopoietin-2 levels.
Crane J, Manfredo J, Boscolo E, Coyan M, Takemoto C, Itkin M, Adams DM, Le Cras TD. Pediatr Blood Cancer. 2020 Jul 7:e28529. doi: 10.1002/pbc.28529. Online ahead of print. PMID: 32634277
Analysis of mTOR pathway expression in lymphatic malformation and related diseases.
Hori Y, Ozeki M, Hirose K, Matsuoka K, Matsui T, Kohara M, Tahara S, Toyosawa S, Fukao T, Morii E. Pathol Int. 2020 Jun;70(6):323-329. doi: 10.1111/pin.12913. Epub 2020 Feb 18. PMID: 32067331
Usefulness of 99mTc-ASC lymphoscintigraphy and SPECT/CT in the evaluation of rare lymphatic disorders: Gorham-Stout disease, lymphangioma, and lymphangioleiomyomatosis.
Hou G, Jiang Y, Jing H, Xu W, Xu KF, Chen L, Li F, Cheng W. Medicine (Baltimore). 2020 Sep 25;99(39):e22414. doi: 10.1097/MD.0000000000022414. PMID: 32991473
Gorham-Stout disease successfully treated with sirolimus (rapamycin): a case report and review of the literature.
Liang Y, Tian R, Wang J, Shan Y, Gao H, Xie C, Li J, Xu M, Gu S. BMC Musculoskelet Disord. 2020 Aug 25;21(1):577. doi: 10.1186/s12891-020-03540-7. PMID: 32843029
A somatic activating KRAS variant identified in an affected lesion of a patient with Gorham-Stout disease.
Nozawa A, Ozeki M, Niihori T, Suzui N, Miyazaki T, Aoki Y. J Hum Genet. 2020 Nov;65(11):995-1001. doi: 10.1038/s10038-020-0794-y. Epub 2020 Jun 26. PMID: 32591603
Lymphatics in bone arise from pre-existing lymphatics.
Monroy M, McCarter AL, Hominick D, Cassidy N, Dellinger MT. Development. 2020 Apr 20;147(21):dev184291. doi: 10.1242/dev.184291. PMID: 32188632
Gorham-Stout disease: good results of bisphosphonate treatment in 6 of 7 patients.
Schneider KN, Masthoff M, Gosheger G, Klingebiel S, Schorn D, Röder J, Vogler T, Wildgruber M, Andreou D. Acta Orthop. 2020 Apr;91(2):209-214. doi: 10.1080/17453674.2019.1709716. Epub 2020 Jan 13. PMID: 31928107
MET somatic activating mutations are responsible for lymphovenous malformation and can be identified using cell-free DNA next generation sequencing liquid biopsy.
Palmieri M, Di Sarno L, Tommasi A, Currò A, Doddato G, Baldassarri M, Frullanti E, Giliberti A, Fallerini C, Arzini A, Pinto A, Vaghi M, Renieri A. J Vasc Surg Venous Lymphat Disord. 2020 Aug 26:S2213-333X(20)30461-3. doi: 10.1016/j.jvsv.2020.07.015. Online ahead of print. PMID: 32858245
Update and audit of the St George's classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis.
Gordon K, Varney R, Keeley V, Riches K, Jeffery S, Van Zanten M, Mortimer P, Ostergaard P, Mansour S. J Med Genet. 2020 Oct;57(10):653-659. doi: 10.1136/jmedgenet-2019-106084. Epub 2020 May 14. PMID: 32409509
Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations.
Zenner K, Jensen DM, Cook TT, Dmyterko V, Bly RA, Ganti S, Mirzaa GM, Dobyns WB, Perkins JA, Bennett JT. Genet Med. 2020 Sep 4. doi: 10.1038/s41436-020-00943-8. Online ahead of print. PMID: 32884133
Neonatal lymphatic flow disorders: impact of lymphatic imaging and interventions on outcomes.
Pinto E, Dori Y, Smith C, DeWitt A, Williams C, Griffis H, Escobar F, Biko DM, Krishnamurthy G, Rome J, Glatz AC, Liu M, Ravishankar C, Zhang H, Taha D. J Perinatol. 2020 Sep 2. doi: 10.1038/s41372-020-00771-3. Online ahead of print. PMID: 32879418
A novel method for isolating lymphatic endothelial cells from lymphatic malformations and detecting PIK3CA somatic mutation in these isolated cells.
Usui H, Tsurusaki Y, Shimbo H, Saitsu H, Harada N, Kitagawa N, Mochizuki K, Masuda M, Kurosawa K, Shinkai M. Surg Today. 2020 Sep 2. doi: 10.1007/s00595-020-02122-3. Online ahead of print. PMID: 32876734
Intramesenteric dynamic contrast pediatric MR lymphangiography: initial experience and comparison with intranodal and intrahepatic MR lymphangiography.
Dori Y, Smith CL, DeWitt AG, Srinivasan A, Krishnamurthy G, Escobar FA, Biko DM. Eur Radiol. 2020 Oct;30(10):5777-5784. doi: 10.1007/s00330-020-06949-9. Epub 2020 May 27. PMID: 32462442
Constitutively active PIK3CA mutations are expressed by lymphatic and vascular endothelial cells in capillary lymphatic venous malformation.
Le Cras TD, Goines J, Lakes N, Pastura P, Hammill AM, Adams DM, Boscolo E. Angiogenesis. 2020 Aug;23(3):425-442. doi: 10.1007/s10456-020-09722-0. Epub 2020 Apr 30. PMID: 32350708
Atypical cadherin FAT4 orchestrates lymphatic endothelial cell polarity in response to flow.
Betterman KL, Sutton DL, Secker GA, Kazenwadel J, Oszmiana A, Lim L, Miura N, Sorokin L, Hogan BM, Kahn ML, McNeill H, Harvey NL. J Clin Invest. 2020 Jun 1;130(6):3315-3328. doi: 10.1172/JCI99027. PMID: 32182215
Abnormal Pulmonary Lymphatic Flow in Patients With Lymphatic Anomalies and Respiratory Compromise.
Itkin M, Rabinowitz DA, Nadolski G, Stafler P, Mascarenhas L, Adams D. Chest. 2020 Aug;158(2):681-691. doi: 10.1016/j.chest.2020.02.058. Epub 2020 Mar 24. PMID: 32220591
Blockade of VEGF-C signaling inhibits lymphatic malformations driven by oncogenic PIK3CA mutation.
Martinez-Corral I, Zhang Y, Petkova M, Ortsäter H, Sjöberg S, Castillo SD, Brouillard P, Libbrecht L, Saur D, Graupera M, Alitalo K, Boon L, Vikkula M, Mäkinen T. Nat Commun. 2020 Jun 8;11(1):2869. doi: 10.1038/s41467-020-16496-y. PMID: 32513927
Chronic lymphedema in patients with kaposiform hemangioendothelioma: incidence, clinical features, risk factors and management.
Ji Y, Chen S, Xia C, Zhou J, Jiang X, Xu X, Yang K, Zhang X, Kong F, Lu G, Zhang Y. Orphanet J Rare Dis. 2020 Nov 7;15(1):313. doi: 10.1186/s13023-020-01595-2. PMID: 33160383
Multidisciplinary guidelines for initial evaluation of complicated lymphatic anomalies-expert opinion consensus.
Iacobas I, Adams DM, Pimpalwar S, Phung T, Blei F, Burrows P, Lopez-Gutierrez JC, Levine MA, Trenor CC 3rd. Pediatr Blood Cancer. 2020 Jan;67(1):e28036. doi: 10.1002/pbc.28036. Epub 2019 Oct 16. PMID: 31617676
