Journal of Tissue Engineering and Reconstructive Surgery >
Progress in Targeted Therapy of Low-Flow Vascular Malformation
Received date: 2020-04-08
Revised date: 2020-04-24
Online published: 2020-06-26
Key words: Venous malformation; Lymphatic malformation; Targeted therapy; Sirolimus
Hongyuan LIU, Tongxin GE, Xiaoxi LIN . Progress in Targeted Therapy of Low-Flow Vascular Malformation[J]. Journal of Tissue Engineering and Reconstructive Surgery, 2020 , 16(3) : 204 -209 . DOI: 10.3969/j.issn.1673-0364.2020.03.008
[1] | International Society for the Study of Vascular Anomalies. ISSVA classification for Vascular Anomalies [EB/OL]. ( 2018- 06- 30)[2020-04-22]. . |
[2] | 中华医学会整形外科分会血管瘤和脉管畸形学组. 血管瘤和脉管畸形的诊断及治疗指南(2019版)[J]. 组织工程与重建外科杂志, 2019,15(5):277-317. |
[3] | Dasgupta R, Patel M . Venous malformations[J]. Semin Pediatr Surg, 2014,23(4):198-202. |
[4] | Soblet J, Limaye N, Uebelhoer M , et al. Variable somatic TIE2 mutations in half of sporadic venous malformations[J]. Mol Syndromol, 2013,4(4):179-183. |
[5] | Limaye N, Wouters V, Uebelhoer M , et al. Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations[J]. Nat Genet, 2009,41(1):118-124. |
[6] | Vikkula M, Boon LM , Carraway KL 3rd, et al. Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2[J]. Cell, 1996,87(7):1181-1190. |
[7] | Soblet J, Kangas J, N?tynki M , et al. Blue rubber bleb nevus (BRBN) syndrome is caused by somatic TEK (TIE2) mutations[J]. J Invest Dermatol, 2017,137(1):207-216. |
[8] | Limaye N, Kangas J, Mendola A , et al. Somatic activating PIK3CA mutations cause venous malformation[J]. Am J Hum Genet, 2015,97(6):914-921. |
[9] | Castel P, Carmona FJ, Grego-Bessa J , et al. Somatic PIK3CA mutations as a driver of sporadic venous malformations[J]. Sci Transl Med, 2016, 8(332):332ra42. |
[10] | Li X, Cai Y, Goines J , et al. Ponatinib combined with rapamycin causes regression of murine venous malformation[J]. Arterioscler Thromb Vasc Biol, 2019,39(3):496-512. |
[11] | Boscolo E, Limaye N, Huang L , et al. Rapamycin improves TIE2-mutated venous malformation in murine model and human subjects[J]. J Clin Invest, 2015,125(9):3491-3504. |
[12] | Castillo SD, Tzouanacou E, Zaw-Thin M , et al. Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans[J]. Sci Transl Med, 2016, 8(332):332ra43. |
[13] | Tammela T, Alitalo K . Lymphangiogenesis: Molecular mechanisms and future promise[J]. Cell, 2010,140(4):460-476. |
[14] | Luks VL, Kamitaki N, Vivero MP , et al. Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA[J]. J Pediatr, 2015,166(4):1048-1054. |
[15] | Osborn AJ, Dickie P, Neilson DE , et al. Activating PIK3CA alleles and lymphangiogenic phenotype of lymphatic endothelial cells isolated from lymphatic malformations[J]. Hum Mol Genet, 2015,24(4):926-938. |
[16] | Boscolo E, Coma S, Luks VL , et al. AKT hyper-phosphorylation associated with PI3K mutations in lymphatic endothelial cells from a patient with lymphatic malformation[J]. Angiogenesis, 2015,18(2):151-162. |
[17] | Blesinger H, Kaulfu? S, Aung T , et al. PIK3CA mutations are specifically localized to lymphatic endothelial cells of lymphatic malformations[J]. PLoS One, 2018,13(7):e0200343. |
[18] | Trenor CC 3rd, Chaudry G . Complex lymphatic anomalies[J]. Semin Pediatr Surg, 2014,23(4):186-190. |
[19] | Ozeki M, Fukao T . Generalized lymphatic anomaly and gorham-stout disease: overview and recent insights[J]. Adv Wound Care (New Rochelle), 2019,8(6):230-245. |
[20] | Hagendoorn J, Yock TI, Borel Rinkes IH , et al. Novel molecular pathways in Gorham disease: implications for treatment[J]. Pediatr Blood Cancer, 2014,61(3):401-406. |
[21] | Croteau SE, Kozakewich HP, Perez-Atayde AR , et al. Kaposiform lymphangiomatosis: a distinct aggressive lymphatic anomaly[J]. J Pediatr, 2014,164(2):383-388. |
[22] | Dellinger MT, Garg N, Olsen BR . Viewpoints on vessels and vanishing bones in Gorham-Stout disease[J]. Bone, 2014,63:47-52. |
[23] | Barclay SF, Inman KW, Luks VL , et al. A somatic activating NRAS variant associated with kaposiform lymphangiomatosis[J]. Genet Med, 2019,21(7):1517-1524. |
[24] | Boscolo E, Pastura P, Glaser K , et al. Signaling pathways and inhibitors of cells from patients with kaposiform lymphangiomatosis[J]. Pediatr Blood Cancer, 2019,66(8):e27790. |
[25] | Rodriguez-Laguna L, Agra N, Iba?ez K , et al. Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly[J]. J Exp Med, 2019,216(2):407-418. |
[26] | Manevitz-Mendelson E, Leichner GS, Barel O , et al. Somatic NRAS mutation in patient with generalized lymphatic anomaly[J]. Angiogenesis, 2018,21(2):287-298. |
[27] | Li D, Wenger TL, Seiler C , et al. Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly[J]. Hum Mol Genet, 2018,27(18):3233-3245. |
[28] | Keppler-Noreuil KM, Rios JJ, Parker VE , et al. PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation[J]. Am J Med Genet A, 2015,167A(2):287-295. |
[29] | Parker VER, Keppler-Noreuil KM, Faivre L , et al. Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum[J]. Genet Med, 2019,21(5):1189-1198. |
[30] | Venot Q, Blanc T, Rabia SH , et al. Targeted therapy in patients with PIK3CA-related overgrowth syndrome[J]. Nature, 2018,558(7711):540-546. |
[31] | Gits CC, Nelson SC, Feltis BA , et al. Multimodal therapy in the treatment of a venolymphatic malformation of the axilla and chest wall in an infant[J]. J Vasc Surg Venous Lymphat Disord, 2014,2(4):451-454. |
[32] | Kim D, Benjamin L, Wysong A , et al. Treatment of complex periorbital venolymphatic malformation in a neonate with a combina-tion therapy of sirolimus and prednisolone[J]. Dermatol Ther, 2015,28(4):218-221. |
[33] | Goldenberg DC, Carvas M, Adams D , et al. Successful treatment of a complex vascular malformation with sirolimus and surgical resection[J]. J Pediatr Hematol Oncol, 2017,39(4):e191-e195. |
[34] | Hammer J, Seront E, Duez S , et al. Sirolimus is efficacious in treatment for extensive and/or complex slow-flow vascular malformations: a monocentric prospective phase II study[J]. Orphanet J Rare Dis, 2018,13(1):191. |
[35] | Mack JM, Verkamp B, Richter GT , et al. Effect of sirolimus on coagulopathy of slow-flow vascular malformations[J]. Pediatr Blood Cancer, 2019,66(10):e27896. |
[36] | Seront E, Van Damme A, Boon LM , et al. Rapamycin and treatment of venous malformations[J]. Curr Opin Hematol, 2019,26(3):185-192. |
[37] | Isoldi S, Belsha D, Yeop I , et al. Diagnosis and management of children with Blue Rubber Bleb Nevus Syndrome: A multi-center case series[J]. Dig Liver Dis, 2019,51(11):1537-1546. |
[38] | Yuksekkaya H, Ozbek O, Keser M , et al. Blue rubber bleb nevus syndrome: successful treatment with sirolimus[J]. Pediatrics, 2012,129(4):e1080-e1084. |
[39] | Salloum R, Fox CE, Alvarez-Allende CR , et al. Response of blue rubber bleb nevus syndrome to sirolimus treatment[J]. Pediatr Blood Cancer, 2016,63(11):1911-1914. |
[40] | Zhang B, Li L, Zhang N , et al. Efficacy and safety of sirolimus in the treatment of blue rubber bleb naevus syndrome in paediatric patients[J]. Clin Exp Dermatol, 2020,45(1):79-85. |
[41] | Wong XL, Phan K, Rodríguez Bandera AI , et al. Sirolimus in blue rubber bleb naevus syndrome: A systematic review[J]. J Paediatr Child Health, 2019,55(2):152-155. |
[42] | Couto JA, Vivero MP, Kozakewich HPW , et al. A somatic MAP3K3 mutation is associated with verrucous venous malformation[J]. Am J Hum Genet, 2015,96(3):480-486. |
[43] | Zhang G, Chen H, Zhen Z , et al. Sirolimus for treatment of verrucous venous malformation: A retrospective cohort study[J]. J Am Acad Dermatol, 2019,80(2):556-558. |
[44] | Cai R, Yang X, Gu H , et al. Sirolimus for the treatment of “verrucous” venous malformation: are we missing the lymphatic malformation component [J]? J Am Acad Dermatol, 2018: S0190- 9622(18) 32578-7. |
[45] | R?ssler J, Geiger J, F?ldi E , et al. Sirolimus is highly effective for lymph leakage in microcystic lymphatic malformations with skin involvement[J]. Int J Dermatol, 2017,56(4):e72-e75. |
[46] | Lagrèze WA, Joachimsen L, Gross N , et al. Sirolimus-induced regression of a large orbital lymphangioma[J]. Orbit, 2019,38(1):79-80. |
[47] | Ghariani Fetoui N, Boussofara L, Gammoudi R , et al. Efficacy of sirolimus in the treatment of microcystic lymphatic malformation of the tongue[J]. J Eur Acad Dermatol Venereol, 2019,33(9):e336-e337. |
[48] | Triana P, Miguel M, Díaz M , et al. Oral sirolimus: an option in the management of neonates with life-threatening upper airway lymphatic malformations[J]. Lymphat Res Biol, 2019,17(5):504-511. |
[49] | Alemi AS, Rosbe KW, Chan DK , et al. Airway response to sirolimus therapy for the treatment of complex pediatric lymphatic malformations[J]. Int J Pediatr Otorhinolaryngol, 2015,79(12):2466-2469. |
[50] | Strychowsky JE, Rahbar R , O'Hare MJ, et al. Sirolimus as treatment for 19 patients with refractory cervicofacial lymphatic malformation[J]. Laryngoscope, 2018,128(1):269-276. |
[51] | Tian R, Liang Y, Zhang W , et al. Effectiveness of sirolimus in the treatment of complex lymphatic malformations: Single center report of 56 cases[J]. J Pediatr Surg, 2020,[Epub ahead of print]. |
[52] | Ozeki M, Nozawa A, Yasue S , et al. The impact of sirolimus therapy on lesion size, clinical symptoms, and quality of life of patients with lymphatic anomalies[J]. Orphanet J Rare Dis, 2019,14(1):141. |
[53] | Le Sage S, David M, Dubois J , et al. Efficacy and absorption of topical sirolimus for the treatment of vascular anomalies in children: A case series[J]. Pediatr Dermatol, 2018,35(4):472-477. |
[54] | García-Montero P, Del Boz J, Baselga-Torres E , et al. Use of topical rapamycin in the treatment of superficial lymphatic malformations[J]. J Am Acad Dermatol, 2019,80(2):508-515. |
[55] | Freixo C, Ferreira V, Martins J , et al. Efficacy and safety of sirolimus in the treatment of vascular anomalies: A systematic review[J]. J Vasc Surg, 2020,71(1):318-327. |
[56] | Ricci KW, Hammill AM, Mobberley-Schuman P , et al. Efficacy of systemic sirolimus in the treatment of generalized lymphatic anomaly and Gorham-Stout disease[J]. Pediatr Blood Cancer, 2019,66(5):e27614. |
[57] | Wang Z, Li K, Yao W , et al. Successful treatment of kaposiform lymphangiomatosis with sirolimus[J]. Pediatr Blood Cancer, 2015,62(7):1291-1293. |
[58] | Adams DM , Trenor CC 3rd, Hammill AM, et al. Efficacy and safety of sirolimus in the treatment of complicated vascular anomalies[J]. Pediatrics, 2016,137(2):e20153257. |
[59] | Mori M, Dictor M, Brodszki N , et al. Pulmonary and pleural lymphatic endothelial cells from pediatric, but not adult, patients with Gorham-Stout disease and generalized lymphatic anomaly, show a high proliferation rate[J]. Orphanet J Rare Dis, 2016,11(1):67. |
[60] | Adams DM, Ricci KW . Vascular anomalies: diagnosis of complicated anomalies and new medical treatment options[J]. Hematol Oncol Clin North Am, 2019,33(3):455-470. |
[61] | Yesil S, Tanyildiz HG, Bozkurt C , et al. Single-center experience with sirolimus therapy for vascular malformations[J]. Pediatr Hematol Oncol, 2016,33(3):219-225. |
[62] | Dodds M, Tollefson M, Castelo-Soccio L , et al. Treatment of superficial vascular anomalies with topical sirolimus: A multicenter case series[J]. Pediatr Dermatol, 2020,37(2):272-277. |
[63] | Badia P, Ricci K, Gurria JP , et al. Topical sirolimus for the treatment of cutaneous manifestations of vascular anomalies: A case series[J]. Pediatr Blood Cancer, 2020,67(4):e28088. |
[64] | Vlahovic AM, Vlahovic NS, Haxhija EQ . Sirolimus for the treatment of a massive capillary-lymphatico-venous malformation: a case report[J]. Pediatrics, 2015,136(2):e513-e516. |
[65] | Bessis D, Vernhet H, Bigorre M , et al. Life-threatening cutaneous bleeding in childhood klippel-trenaunay syndrome treated with oral sirolimus[J]. JAMA Dermatol, 2016,152(9):1058-1059. |
[66] | González-Hermosa MR, Guerra E, Tuduri I , et al. CLAPO syndrome: Effective response to treatment with oral rapamycin[J]. Dermatol Ther, 2019,32(4):e12991. |
[67] | Lee RA, Gabardi S . Current trends in immunosuppressive therapies for renal transplant recipients[J]. Am J Health Syst Pharm, 2012,69(22):1961-1975. |
[68] | Nadal M, Giraudeau B, Tavernier E , et al. Efficacy and safety of mammalian target of rapamycin inhibitors in vascular anomalies: a systematic review[J]. Acta Derm Venereol, 2016,96(4):448-452. |
[69] | Wiegand S, Wichmann G, Dietz A . Treatment of lymphatic malformations with the mTOR inhibitor sirolimus: a systematic review[J]. Lymphat Res Biol, 2018,16(4):330-339. |
[70] | Ying H, Qiao C, Yang X , et al. A case report of 2 sirolimus-related deaths among infants with kaposiform hemangioendo the liomas[J]. Pediatrics, 2018,141(Suppl 5):S425-S429. |
[71] | Morath C, Arns W, Schwenger V , et al. Sirolimus in renal transplantation[J]. Nephrol Dial Transplant, , 2007,22(Suppl 8):viii61-viii65. |
[72] | EBPG Expert Group on Renal Transplantation. European best practice guidelines for renal transplantation. Section IV: Long-term management of the transplant recipient. IV.10. Pregnancy in renal transplant recipients[J]. Nephrol Dial Transplant, 2002,17 Suppl 4: 50-55. |
[73] | Zuber J, Anglicheau D, Elie C , et al. Sirolimus may reduce fertility in male renal transplant recipients[J]. Am J Transplant, 2008,8(7):1471-1479. |
[74] | González D, García CD, Azócar M , et al. Growth of kidney-transplanted pediatric patients treated with sirolimus[J]. Pediatr Nephrol, 2011,26(6):961-966. |
[75] | López Gutiérrez JC, Lizarraga R, Delgado C , et al. Alpelisib treatment for genital vascular malformation in a patient with congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal anomalies and/or scoliosis (CLOVES) syndrome[J]. J Pediatr Adolesc Gynecol, 2019,32(6):648-650. |
/
〈 |
|
〉 |