Research Papers

Somatic activating BRAF variants cause isolated lymphatic malformations.
Zenner K, Jensen DM, Dmyterko V, Shivaram GM, Myers CT, Paschal CR, Rudzinski ER, Pham MM, Cheng VC, Manning SC, Bly RA, Ganti S, Perkins JA, Bennett JT. HGG Adv. 2022 Mar 15;3(2):100101. doi: 10.1016/j.xhgg.2022.100101. eCollection 2022 Apr 14. PMID: 35373151

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 Apr 7. doi: 10.1007/s10456-022-09836-7. Online ahead of print. PMID: 35391614

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 Apr 7. doi: 10.1097/PAS.0000000000001898. Online ahead of print. PMID: 35385405

Current concepts from diagnosis to management in Gorham-Stout disease: a systematic narrative review of about 350 cases.
Angelini A, Mosele N, Pagliarini E, Ruggieri P. EFORT Open Rev. 2022 Jan 11;7(1):35-48. doi: 10.1530/EOR-21-0083. PMID: 35076412

Treatment of severe Kaposiform lymphangiomatosis positive for NRAS mutation by MEK inhibition.

Chowers G, Abebe-Campino G, Golan H, Vivante A, Greenberger S, Soudack M, Barkai G, Fox-Fisher I, Li D, March M, Battig MR, Hakonarson H, Adams D, Dori Y, Dagan A. Pediatr Res. 2022 Mar 4. doi: 10.1038/s41390-022-01986-0. Online ahead of print. PMID: 35246606

Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema. Byrne AB, Brouillard P, Sutton DL, Kazenwadel J, Montazaribarforoushi S, Secker GA, Oszmiana A, Babic M, Betterman KL, Brautigan PJ, White M, Piltz SG, Thomas PQ, Hahn CN, Rath M, Felbor U, Korenke GC, Smith CL, Wood KH, Sheppard SE, Adams DM, Kariminejad A, Helaers R, Boon LM, Revencu N, Moore L, Barnett C, Haan E, Arts P, Vikkula M, Scott HS, Harvey NL.

Sci Transl Med. 2022 Mar 2;14(634):eabm4869. doi: 10.1126/scitranslmed.abm4869. Epub 2022 Mar 2.

Treatment of severe Kaposiform lymphangiomatosis positive for NRAS mutation by MEK inhibition.
Chowers G, Abebe-Campino G, Golan H, Vivante A, Greenberger S, Soudack M, Barkai G, Fox-Fisher I, Li D, March M, Battig MR, Hakonarson H, Adams D, Dori Y, Dagan A. Pediatr Res. 2022 Mar 4. doi: 10.1038/s41390-022-01986-0. Online ahead of print. PMID: 35246606