Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations

Journal of Investigative Dermatology

Volumn 137, Issue 1, 2017, Pages 207-216

  Soblet, Julie ^a   Kangas, Jaakko ^b   Nätynki, Marjut ^b   Mendola, Antonella ^a   Helaers, Raphaël ^a   Uebelhoer, Melanie ^a   Kaakinen, Mika ^b   Cordisco, Maria ^c,p   Dompmartin, Anne ^d   Enjolras, Odile ^e   Holden, Simon ^f   Irvine, Alan D ^g   Kangesu, Loshan ^h   Léauté Labrèze, Christine ⁱ   Lanoel, Agustina ^c   Lokmic, Zerina ^j   Maas, Saskia ^k   McAleer, Maeve A ^g   Penington, Anthony ^j   Rieu, Paul ^l   Syed, Samira ^m   van der Vleuten, Carine ^l   Watson, Rosemarie ^g   Fishman, Steven J ⁿ   Mulliken, John B ⁿ   Eklund, Lauri ^b   Limaye, Nisha ^a   Boon, Laurence M ^a,o   Vikkula, Miikka ^a   more..

^a DE DUVE INSTITUTE   (Belgium)

^b UNIVERSITY OF OULU   (Finland)

^c HOSPITAL DE PEDIATRÍA PROF DR JUAN P GARRAHAN   (Argentina)

^d CAEN UNIVERSITY HOSPITAL   (France)

^e ARMAND TROUSSEAU HOSPITAL   (France)

^f ADDENBROOKE S HOSPITAL   (United Kingdom)

^g OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^h BROOMFIELD HOSPITAL   (United Kingdom)

ⁱ HÔPITAL PELLEGRIN   (France)

^j UNIVERSITY OF MELBOURNE   (Australia)

^k UNIVERSITY OF AMSTERDAM   (Netherlands)

^l RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^m GREAT ORMOND STREET HOSPITAL   (United Kingdom)

ⁿ BOSTON CHILDREN S HOSPITAL   (United States)

^o CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^p UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ANGIOPOIETIN RECEPTOR; CIS ACTING ELEMENT; D DIMER; HEMOGLOBIN;

ALLELE; ANEMIA; ARTICLE; BLUE RUBBER BLEB NEVUS; CELL INVASION; CELL SURVIVAL; CLINICAL ARTICLE; CLINICAL FEATURE; COLONY FORMATION; CONTROLLED STUDY; GASTROINTESTINAL HEMORRHAGE; GENE; HUMAN; HUMAN CELL; HUMAN TISSUE; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; SOMATIC MUTATION; TEK GENE; UMBILICAL VEIN ENDOTHELIAL CELL; VEIN MALFORMATION; BELGIUM; COHORT ANALYSIS; EPIDEMIOLOGY; FEMALE; GASTROINTESTINAL NEOPLASMS; GENETIC PREDISPOSITION; GENETICS; INCIDENCE; MALE; MUTATION; NEVUS, BLUE; RARE DISEASE; SKIN NEOPLASMS; VASCULAR MALFORMATIONS;

BELGIUM; COHORT STUDIES; FEMALE; GASTROINTESTINAL NEOPLASMS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INCIDENCE; MALE; MUTATION; NEVUS, BLUE; RARE DISEASES; RECEPTOR, TIE-2; SKIN NEOPLASMS; VASCULAR MALFORMATIONS;

EID: 85006815923     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1016/j.jid.2016.07.034     Document Type: Article

References (39)

1. Aihara, M., Konuma, Y., Okawa, K., Komai, R., Kudo, I., Morioka, R., et al. Blue rubber bleb nevus syndrome with disseminated intravascular coagulation and thrombocytopenia: successful treatment with high-dose intravenous gammaglobulin. Tohoku J Exp Med 163 (1991), 111–117.
2. Apak, H., Celkan, T., Ozkan, A., Yildiz, I., Aydemir, E.H., Ozdil, S., et al. Blue rubber bleb nevus syndrome associated with consumption coagulopathy: treatment with interferon. Dermatology 208 (2004), 345–348.
3. Arbiser, J.L., Moses, M.A., Fernandez, C.A., Ghiso, N., Cao, Y., Klauber, N., et al. Oncogenic H-ras stimulates tumor angiogenesis by two distinct pathways. Proc Natl Acad Sci USA 94 (1997), 861–866.
4. Ballieux, F., Boon, L.M., Vikkula, M., Blue bleb rubber nevus syndrome. Handb Clin Neurol 132 (2015), 223–230.
5. Bean, W.B., Vascular spiders and related lesions of the skin. 1958, Charles Thomas Publishers, Springfield, MA, 178–185.
6. Beluffi, G., Romano, P., Matteotti, C., Minniti, S., Ceffa, F., Morbini, P., Jejunal intussusception in a 10-year-old boy with blue rubber bleb nevus syndrome. Pediatr Radiol 34 (2004), 742–745.
7. Boente, M.D., Cordisco, M.R., Frontini, M.D., Asial, R.A., Blue rubber bleb nevus (Bean syndrome): evolution of four cases and clinical response to pharmacologic agents. Pediatr Dermatol 16 (1999), 222–227.
8. Boon, L.M., Mulliken, J.B., Enjolras, O., Vikkula, M., Glomuvenous malformation (glomangioma) and venous malformation: distinct clinicopathologic and genetic entities. Arch Dermatol 140 (2004), 971–976.
9. Boscolo, E., Limaye, N., Huang, L., Kang, K.T., Soblet, J., Uebelhoer, M., et al. Rapamycin improves TIE2-mutated venous malformation in murine model and human subjects. J Clin Invest 125 (2015), 3491–3504.
10. Calvert, J.T., Riney, T.J., Kontos, C.D., Cha, E.H., Prieto, V.G., Shea, C.R., et al. Allelic and locus heterogeneity in inherited venous malformations. Hum Mol Genet 8 (1999), 1279–1289.
11. Carr, M.M., Jamieson, C.G., Lal, G., Blue rubber bleb nevus syndrome. Can J Surg 39 (1996), 59–62.
12. Deshpande, G.A., Samarasam, I., George, S.V., Chandran, S., Blue rubber bleb nevus syndrome: a rare cause of chronic gastrointestinal bleed in adults. Singapore Med J 55 (2014), e175–e176.
13. Dompmartin, A., Acher, A., Thibon, P., Tourbach, S., Hermans, C., Deneys, V., et al. Association of localized intravascular coagulopathy with venous malformations. Arch Dermatol 144 (2008), 873–877.
14. Dompmartin, A., Ballieux, F., Thibon, P., Lequerrec, A., Hermans, C., Clapuyt, P., et al. Elevated D-dimer level in the differential diagnosis of venous malformations. Arch Dermatol 145 (2009), 1239–1244.
15. Esposito, C., Giurin, I., Farina, A., Ascione, G., Miele, E., Staiano, A., et al. Blue rubber bleb nevus: an uncommon cause of intestinal intussusception. Eur J Pediatr 171 (2012), 1139–1140.
16. Fernandes, C., Silva, A., Coelho, A., Campos, M., Pontes, F., Blue rubber bleb naevus: case report and literature review. Eur J Gastroenterol Hepatol 11 (1999), 455–457.
17. Ferres-Ramis, L., Knopfel, N., Salinas-Sanz, J.A., Martin-Santiago, A., Rapamycin in the treatment of blue rubber bleb nevus syndrome. Actas Dermosifiliogr 106 (2015), 137–138.
18. Fishman, S.J., Smithers, C.J., Folkman, J., Lund, D.P., Burrows, P.E., Mulliken, J.B., et al. Blue rubber bleb nevus syndrome: surgical eradication of gastrointestinal bleeding. Ann Surg 241 (2005), 523–528.
19. Gascoyen, M., Case of naevus involving the parotid gland, and causing death from suffocation: naevi of the viscera. Trans Pathol Soc Lond, 11, 1860, 267.
20. Han, E.C., Kim, S.H., Kim, H.Y., Jung, S.E., Park, K.W., Gastrointestinal hemangioma in childhood: a rare cause of gastrointestinal bleeding. Korean J Pediatr 57 (2014), 245–249.
21. Jain, A., Kar, P., Chander, R., Khandpur, S., Jain, S., Prabhash, K., et al. Blue rubber bleb nevus syndrome: a cause of gastrointestinal hemorrhage. Indian J Gastroenterol 17 (1998), 153–154.
22. Jennings, M., Ward, P., Maddocks, J.L., Blue rubber bleb naevus disease: an uncommon cause of gastrointestinal tract bleeding. Gut 29 (1988), 1408–1412.
23. Kunishige, M., Azuma, H., Masuda, K., Shigekiyo, T., Arii, Y., Kawai, H., et al. Interferon alpha-2a therapy for disseminated intravascular coagulation in a patient with blue rubber bleb nevus syndrome. A case report. Angiology 48 (1997), 273–277.
24. Lee, C., Debnath, D., Whitburn, T., Farrugia, M., Gonzalez, F., Synchronous multiple small bowel intussusceptions in an adult with blue rubber bleb naevus syndrome: report of a case and review of literature. World J Emerg Surg, 3, 2008, 3.
25. Limaye, N., Kangas, J., Mendola, A., Godfraind, C., Schlogel, M.J., Helaers, R., et al. Somatic activating PIK3CA mutations cause venous malformation. Am J Hum Genet 97 (2015), 914–921.
26. Limaye, N., Wouters, V., Uebelhoer, M., Tuominen, M., Wirkkala, R., Mulliken, J.B., et al. Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations. Nat Genet 41 (2009), 118–124.
27. Mccannel, C.A., Hoenig, J., Umlas, J., Woog, J.J., Newman, A.N., Bateman, J.B., Orbital lesions in the blue rubber bleb nevus syndrome. Ophthalmology 103 (1996), 933–936.
28. Natynki, M., Kangas, J., Miinalainen, I., Sormunen, R., Pietila, R., Soblet, J., et al. Common and specific effects of TIE2 mutations causing venous malformations. Hum Mol Genet 24 (2015), 6374–6389.
29. Oranje, A.P., Blue rubber bleb nevus syndrome. Pediatr Dermatol 3 (1986), 304–310.
30. Ory, D.S., Neugeboren, B.A., Mulligan, R.C., A stable human-derived packaging cell line for production of high titer retrovirus/vesicular stomatitis virus G pseudotypes. Proc Natl Acad Sci USA 93 (1996), 11400–11406.
31. Rodrigues, D., Bourroul, M.L., Ferrer, A.P., Monteiro Neto, H., Goncalves, M.E., Cardoso, S.R., Blue rubber bleb nevus syndrome. Rev Hosp Clin Fac Med Sao Paulo 55 (2000), 29–34.
32. Soblet, J., Limaye, N., Uebelhoer, M., Boon, L.M., Vikkula, M., Variable somatic TIE2 mutations in half of sporadic venous malformations. Mol Syndromol 4 (2013), 179–183.
33. Thrash, B., Patel, M., Shah, K.R., Boland, C.R., Menter, A., Cutaneous manifestations of gastrointestinal disease: part II. J Am Acad Dermatol 68 (2013), 211.e1–211.e33 quiz 44–6.
34. Uebelhoer, M., Natynki, M., Kangas, J., Mendola, A., Nguyen, H.L., Soblet, J., et al. Venous malformation-causative TIE2 mutations mediate an AKT-dependent decrease in PDGFB. Hum Mol Genet 22 (2013), 3438–3448.
35. Vikkula, M., Boon, L.M., Carraway, K.L. 3rd, Calvert, J.T., Diamonti, A.J., Goumnerov, B., et al. Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2. Cell 87 (1996), 1181–1190.
36. Wonaga, A., Fernandez, J.L., Barsanti, A., Viola, L.A., An infrequent cause of iron-deficiency anemia: blue rubber bleb nevus syndrome. Rev Gastroenterol Mex 79 (2014), 151–152.
37. Wouters, V., Limaye, N., Uebelhoer, M., Irrthum, A., Boon, L.M., Mulliken, J.B., et al. Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects. Eur J Hum Genet 18 (2010), 414–420.
38. Yuksekkaya, H., Ozbek, O., Keser, M., Toy, H., Blue rubber bleb nevus syndrome: successful treatment with sirolimus. Pediatrics 129 (2012), e1080–e1084.
39. Zahedi, M.J., Darvish Moghadam, S., Seyed Mirzaei, S.M., Dehghani, M., Shafiei Pour, S., Rasti, A., Blue rubber bleb nevus syndrome as a rare cause of iron deficiency anemia: a case report and review of literature. Middle East J Dig Dis 5 (2013), 235–239.