PIK3CA activating mutations in facial infiltrating lipomatosis

Plastic and Reconstructive Surgery

Volumn 133, Issue 1, 2014, Pages

  Maclellan, Reid A ^b   Luks, Valerie L ^b   Vivero, Matthew P ^b   Mulliken, John B ^b   Zurakowski, David ^b   Padwa, Bonnie L ^b   Warman, Matthew L ^b   Greene, Arin K ^a   Kurek, Kyle C ^b  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHATIDYLINOSITOL 3 KINASE; PIK3CA PROTEIN, HUMAN;

FACE; FACIES; GENE LIBRARY; GENETIC HETEROGENEITY; GENETICS; HUMAN; LIPOMATOSIS; MALE; METABOLISM; MISSENSE MUTATION; MOSAICISM; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PRESCHOOL CHILD; SIGNAL TRANSDUCTION; SUBCUTANEOUS TISSUE; ARTICLE;

CHILD, PRESCHOOL; FACE; FACIES; GENE LIBRARY; GENETIC HETEROGENEITY; HUMANS; LIPOMATOSIS; MAGNETIC RESONANCE IMAGING; MALE; MOSAICISM; MUTATION, MISSENSE; PHOSPHATIDYLINOSITOL 3-KINASES; SIGNAL TRANSDUCTION; SUBCUTANEOUS TISSUE;

EID: 84893100110     PISSN: 00321052     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.prs.0000436822.26709.7c     Document Type: Article

References (36)

1. Slavin SA, Baker DC, McCarthy JG, Mufarrij A. Congenital infltrating lipomatosis of the face: clinicopathologic evaluation and treatment. Plast Reconstr Surg. 1983;72:158-164.
2. Padwa BL, Mulliken JB. Facial infltrating lipomatosis. Plast Reconstr Surg. 2001;108:1544-1554.
3. Kang N, Ross D, Harrison D. Unilateral hypertrophy of the face associated with infltrating lipomatosis. J Oral Maxillofac Surg. 1998;56:885-887.
4. Donati L, Candiani P, Grappolini S, Klinger M, Signorini M. Congenital infltrating lipomatosis of the face related to cyto-megalovirus infection. Br J Plast Surg. 1990;43:124-126.
5. Couto RA, Mulliken JB, Padwa BL, et al. Facial infltrating lipomatosis: expression of angiogenic and vasculogenic factors. J Craniofac Surg. 2011;22:2405-2408.
6. Sapp JC, Turner JT, van de Kamp JM, van Dijk FS, Lowry RB, Biesecker LG. Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients. Am J Med Genet A. 2007;143A:2944-2958.
7. Alomari AI. Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome. Clin Dysmorphol. 2009;18:1-7.
8. Kurek KC, Luks VL, Ayturk UM, et al. Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. Am J Hum Genet. 2012;90:1108-1115.
9. Lindhurst MJ, Sapp JC, Teer JK, et al. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med. 2011;365:611-619.
10. Rios JJ, Paria N, Burns DK, et al. Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly. Hum Mol Genet. 2013;22:444-451.
11. Lee JH, Huynh M, Silhavy JL, et al. De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. Nat Genet. 2012;44:941-945.
12. Lindhurst MJ, Parker VE, Payne F, et al. Mosaic overgrowth with fbroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. Nat Genet. 2013;44:928-933.
13. Rivière JB, Mirzaa GM, O'Roak BJ, et al.; Finding of Rare Disease Genes (FORGE) Canada Consortium. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet. 2012;44:934-940.
14. Poduri A, Evrony GD, Cai X, et al. Somatic activation of AKT3 causes hemispheric developmental brain malformations. Neuron. 2012;74:41-48.
15. Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009;25:1754-1760.
16. Li, H., Handsaker, B., Wysoker, A., et al. The Sequence Alignment/Map format and SAMtools. Bioinformatics 25: 2078-2079, 2009.
17. Koboldt DC, Chen K, Wylie T, et al. VarScan: variant detection in massively parallel sequencing of individual and pooled samples. Bioinformatics. 2009;25:2283-2285.
18. Abecasis, G. R., Auton, A., Brooks, L. D., et al. An integrated map of genetic variation from 1, 092 human genomes. Nature 491: 56-65, 2012.
19. Sherry ST, Ward MH, Kholodov M, et al. dbSNP: the NCBI database of genetic variation. Nucleic Acids Res. 2001;29:308-311.
20. Robinson JT, Thorvaldsdóttir H, Winckler W, et al. Integrative genomics viewer. Nat Biotechnol. 2011;29:24-26.
21. Forbes SA, Bindal N, Bamford S, et al. COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer. Nucleic Acids Res. 2011;39(Database issue):D945-D950.
22. Happle R. Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin. J Am Acad Dermatol. 1987;16:899-906.
23. Cobourne MT, Sharpe PT. Tooth and jaw: molecular mechanisms of patterning in the frst branchial arch. Arch Oral Biol. 2003;48:1-14.
24. Müller F, O'Rahilly R. The prechordal plate, the rostral end of the notochord and nearby median features in staged human embryos. Cells Tissues Organs. 2003;173:1-20.
25. LaBonne C, Bronner-Fraser M. Molecular mechanisms of neural crest formation. Annu Rev Cell Dev Biol. 1999;15:81-112.
26. Cutting GR. Modifer genes in Mendelian disorders: the example of cystic fbrosis. Ann N Y Acad Sci. 2010;1214:57-69.
27. Ruark E, Snape K, Humburg P, et al.; Breast and Ovarian Cancer Susceptibility Collaboration; Wellcome Trust Case Control Consortium. Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer. Nature. 2013;493:406-410.
28. Kinross KM, Montgomery KG, Kleinschmidt M, et al. An activating Pik3ca mutation coupled with Pten loss is suff-cient to initiate ovarian tumorigenesis in mice. J Clin Invest. 2012;122:553-557.
29. Yuan W, Stawiski E, Janakiraman V, et al. Conditional activation of Pik3ca(H1047R) in a knock-in mouse model promotes mammary tumorigenesis and emergence of mutations. Oncogene. 2013;32:318-326.
30. Shirley MD, Tang H, Gallione CJ, et al. Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med. 2013.
31. Hiles ID, Otsu M, Volinia S, et al. Phosphatidylinositol 3-kinase: structure and expression of the 110 kd catalytic subunit. Cell. 1992;70:419-429.
32. Volinia S, Hiles I, Ormondroyd E, et al. Molecular cloning, cDNA sequence, and chromosomal localization of the human phosphatidylinositol 3-kinase p110 alpha (PIK3CA) gene. Genomics. 1994;24:472-477.
33. Hemmings BA, Restuccia DF. PI3K-PKB/Akt pathway. Cold Spring Harb Perspect Biol. 2012;4:a011189.
34. Samuels Y, Wang Z, Bardelli A, et al. High frequency of mutations of the PIK3CA gene in human cancers. Science. 2004;304:554.
35. Kang S, Bader AG, Vogt PK. Phosphatidylinositol 3-kinase mutations identifed in human cancer are oncogenic. Proc Natl Acad Sci USA. 2005;102:802-807.
36. Kurtz JE, Ray-Coquard I. PI3 kinase inhibitors in the clinic: an update. Anticancer Res. 2012;32:2463-2470.