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ORIGINAL ARTICLE

Splenic Hamartomas in Alagille Syndrome: Case Report and Literature Review

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Pages 216-225 | Received 03 Apr 2014, Accepted 07 Apr 2014, Published online: 27 May 2014

REFERENCES

  • Wu JK, Kitajewski JK. A potential role for notch signaling in the pathogenesis and regulation of hemangiomas. J Craniofac Surg 2009;20(Suppl 1):698–702.
  • Wu JK, Adepoju O, De Silva D, A switch in Notch gene expression parallels stem cell to endothelial transition in infantile hemangioma. Angiogenesis 2010;13(1):15–23.
  • Dill MT, Rothweiler S, Djonov V, Disruption of Notch1 induces vascular remodeling, intussusceptive angiogenesis, and angiosarcomas in livers of mice. Gastroenterology 2012;142(4): 967–977 e2.
  • Chao C, Silverberg MJ, Martinez-Maza O, Epstein-Barr virus infection and expression of B-cell oncogenic markers in HIV-related diffuse large B-cell lymphoma. Clin Cancer Res 2012;18(17): 4702–4712.
  • Benoit G, Sartelet H, Levy E, Mesangiolipidosis in Alagille syndrome–relationship with apolipoprotein A-I. Nephrol Dial Transplant 2007;22(7):2072–2075.
  • Koyak Z, Harris L, de Groot JR, Sudden cardiac death in adult congenital heart disease. Circulation 2012;126(16):1944–1954.
  • Diller GP, Kempny A, Liodakis E, Left ventricular longitudinal function predicts life-threatening ventricular arrhythmia and death in adults with repaired tetralogy of Fallot. Circulation 2012;125(20): 2440–2446.
  • Lam KY, Yip KH, Peh WC. Splenic vascular lesions: unusual features and a review of the literature. Aust N Z J Surg 1999;69(6):422–425.
  • Danks DM, Campbell PE, Jack I, Studies of the aetiology of neonatal hepatitis and biliary atresia. Arch Dis Child 1977;52(5):360–367.
  • Turnpenny PD, Ellard S. Alagille syndrome: pathogenesis, diagnosis and management. Eur J Hum Genet 2012;20(3):251–257.
  • Roca C, Adams RH. Regulation of vascular morphogenesis by Notch signaling. Genes Dev 2007;21(20):2511–2524.
  • Gridley T. Notch signaling in the vasculature. Curr Top Dev Biol 2010;92:277–309.
  • Alva JA, Iruela-Arispe ML. Notch signaling in vascular morphogenesis. Curr Opin Hematol 2004;11(4):278–283.
  • Fischer A, Gessler M. Delta-Notch–and then? Protein interactions and proposed modes of repression by Hes and Hey bHLH factors. Nucleic Acids Res 2007;35(14):4583–4596.
  • Kopan R. Notch signaling. Cold Spring Harb Perspect Biol 2012;4(10).
  • Kandachar V, Roegiers F. Endocytosis and control of Notch signaling. Curr Opin Cell Biol 2012;24(4):534–540.
  • Guruharsha KG, Kankel MW, Artavanis-Tsakonas S. The Notch signalling system: recent insights into the complexity of a conserved pathway. Nat Rev Genet 2012;13(9):654–666.
  • Iso T, Hamamori Y, Kedes L. Notch signaling in vascular development. Arterioscler Thromb Vasc Biol 2003;23(4):543–553.
  • Shawber CJ, Kitajewski J. Notch function in the vasculature: insights from zebrafish, mouse and man. Bioessays 2004;26(3):225–234.
  • Krebs LT, Xue Y, Norton CR, Notch signaling is essential for vascular morphogenesis in mice. Genes Dev 2000;14(11):1343–1352.
  • Liu ZJ, Shirakawa T, Li Y, Regulation of Notch1 and Dll4 by vascular endothelial growth factor in arterial endothelial cells: implications for modulating arteriogenesis and angiogenesis. Mol Cell Biol 2003;23(1):14–25.
  • Conlon RA, Reaume AG, Rossant J. Notch1 is required for the coordinate segmentation of somites. Development 1995;121(5):1533–1545.
  • Fischer A, Schumacher N, Maier M, The Notch target genes Hey1 and Hey2 are required for embryonic vascular development. Genes Dev 2004;18(8):901–911.
  • Hellstrom M, Phng LK, Gerhardt H. VEGF and Notch signaling: the yin and yang of angiogenic sprouting. Cell Adh Migr 2007;1(3):133–136.
  • Thomas JL, Baker K, Han J, Interactions between VEGFR and Notch signaling pathways in endothelial and neural cells. Cell Mol Life Sci 2013;70(10):1779–1792.
  • Djokovic D, Trindade A, Gigante J, Combination of Dll4/Notch and Ephrin-B2/EphB4 targeted therapy is highly effective in disrupting tumor angiogenesis. BMC Cancer 2010;10:641.
  • Yamanda S, Ebihara S, Asada M, Role of ephrinB2 in nonproductive angiogenesis induced by Delta-like 4 blockade. Blood 2009;113(15):3631–3639.
  • Brennan J, Karl J, Capel B. Divergent vascular mechanisms downstream of Sry establish the arterial system in the XY gonad. Dev Biol 2002;244(2): 418–428.
  • Villa N, Walker L, Lindsell CE, Vascular expression of Notch pathway receptors and ligands is restricted to arterial vessels. Mech Dev 2001;108(1–2):161–164.
  • Wang HU, Chen ZF, Anderson DJ. Molecular distinction and angiogenic interaction between embryonic arteries and veins revealed by ephrin-B2 and its receptor Eph-B4. Cell 1998;93(5):741–753.
  • Lawson ND, Vogel AM, Weinstein BM. Sonic hedgehog and vascular endothelial growth factor act upstream of the Notch pathway during arterial endothelial differentiation. Dev Cell 2002;3(1):127–136.
  • Adepoju O, Wong A, Kitajewski A, Expression of HES and HEY genes in infantile hemangiomas. Vasc Cell 2011;3:19.
  • Boscolo E, Stewart CL, Greengerger S, JAGGED1 signaling regulates hemangioma stem cell-to-pericyte/vascular smooth muscle cell differentiation. Arterioscler Thromb Vasc Biol 2011;31(10): 2181–2192.
  • Nedredal GI, Elvevold KH, Yterbo LM, Liver sinusoidal endothelial cells represents an important blood clearance system in pigs. Comp Hepatol 2003;2(1):1.
  • Dufraine J, Funahashi Y, Kitajewski J. Notch signaling regulates tumor angiogenesis by diverse mechanisms. Oncogene 2008;27(38):5132–5137.
  • McElhinney DB, Krantz ID, Bason L, Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome. Circulation 2002;106(20):2567–2574.
  • Xue Y, Gao X, Lindesell CE, Embryonic lethality and vascular defects in mice lacking the Notch ligand Jagged1. Hum Mol Genet 1999;8(5):723–730.
  • McCright B, Lozier J, Gridley T. A mouse model of Alagille syndrome: Notch2 as a genetic modifier of Jag1 haploinsufficiency. Development 2002;129(4):1075–1082.
  • McDaniell R, Warthen DM, Sanchez-Lara PA, NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. Am J Hum Genet 2006;79(1):169–173.
  • Emerick KM, Krantz ID, Kamath BM, Intracranial vascular abnormalities in patients with Alagille syndrome. J Pediatr Gastroenterol Nutr 2005;41(1):99–107.
  • Rocha R, Soro I, Leitao A, Moyamoya vascular pattern in Alagille syndrome. Pediatr Neurol 2012;47(2):125–128.

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