182
Views
5
CrossRef citations to date
0
Altmetric
Research Article

Osteosarcoma in a Marfan patient with a novel premature termination codon in the FBN1 gene

, , , &
Pages 157-165 | Received 15 Feb 2010, Accepted 08 Jun 2010, Published online: 30 Jul 2010

REFERENCES

  • Klein, M.J., and Siegal, G.P. (2006). Osteosarcoma: Anatomic and histologic variants Am. J. Clin. Pathol 125(4):555–581.
  • Bielack, S.S., Kempf-Bielack, B., Delling, G., Exner, G.U., Flege, S., Helmke, K., Kotz, R., Salzer-Kuntschik, M., Werner, M., Winkelmann, W., Zoubek, A., Jurgens, H., and Winkler, K. (2002). Prognostic factors in high-grade osteosarcoma of the extremities or trunk: An analysis of 1,702 patients treated on neoadjuvant cooperative osteosarcoma study group protocols J. Clin. Oncol 20(3):776–790.
  • Wu, K.K. (1989). Osteogenic sarcoma of the tarsal navicular bone J. Foot Surg 28(4):363–369.
  • Choong, P.F., Qureshi, A.A., Sim, F.H., and Unni, K.K. (1999). Osteosarcoma of the foot: A review of 52 patients at the Mayo Clinic Acta Orthop. Scand 70(4):361–364.
  • Dietz, H.C., Cutting, G.R., Pyeritz, R.E., Maslen, C.L., Sakai, L.Y., Corson, G.M., Puffenberger, E.G., Hamosh, A., Nanthakumar, E.J., Curristin, S.M., Stetten, G., Meyers, D.A., and Francomano, C.A. (1991). Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene Nature (London) 352:337–339.
  • De Paepe, A., Devereux, R.B., Dietz, H.C., Hennekam, R.C., and Pyeritz, R.E. (1996). Revised diagnostic criteria for the Marfan syndrome Am. J. Med. Genet 62(4):417–426.
  • Sakai, L.Y., Keene, D.R., Engvall, E. (1986). Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils J. Cell Biol 103(6 Pt 1):2499–2509.
  • Neptune, E.R., Frischmeyer, P.A., Arking, D.E., Myers, L., Bunton, T.E., Gayraud, B., Ramirez, F., Sakai, L.Y., and Dietz, H.C. (2003). Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome [comment] Nat. Genet 33(3):407–411.
  • Judge, D.P., and Dietz, H.C. (2005). Marfan's syndrome Lancet 366(9501):1965–1976.
  • Heremans, H., Billiau, A., Cassiman, J.J., Mulier, J.C., and de Somer, P. (1978). In vitro cultivation of human tumor tissues. II. Morphological and virological characterization of three cell lines Oncology 35(6):246–252.
  • Fogh, J., Fogh, J.M., and Orfeo, T. (1977). One hundred and twenty-seven cultured human tumor cell lines producing tumors in nude mice J. Natl Cancer Inst 59(1): 221–226.
  • Wood, L.D., Parsons, D.W., Jones, S., Lin, J., Sjoblom, T., Leary, R.J., Shen, D., Boca, S.M., Barber, T., Ptak, J., Silliman, N., Szabo, S., Dezso, Z., Ustyanksky, V., Nikolskaya, T., Nikolsky, Y., Karchin, R., Wilson, P.A., Kaminker, J.S., Zhang, Z., Croshaw, R., Willis, J., Dawson, D., Shipitsin, M., Willson, J.K., Sukumar, S., Polyak, K., Park, B.H., Pethiyagoda, C.L., Pant, P.V., Ballinger, D.G., Sparks, A.B., Hartigan, J., Smith, D.R., Suh, E., Papadopoulos, N., Buckhaults, P., Markowitz, S.D., Parmigiani, G., Kinzler, K.W., Velculescu, V.E., and Vogelstein, B. (2007). The genomic landscapes of human breast and colorectal cancers Science 318(5853):1108–1113.
  • Wessel, D., and Flugge, U.I. (1984). A method for the quantitative recovery of protein in dilute solution in the presence of detergents and lipids Anal. Biochem 138(1):141–143.
  • Trask, T.M., Ritty, T.M., Broekelmann, T., Tisdale, C., and Mecham, R.P. (1999). N-terminal domains of fibrillin 1 and fibrillin 2 direct the formation of homodimers: A possible first step in microfibril assembly Biochem. J 340(Pt 3):693–701.
  • Ritty, T.M., Broekelmann, T., Tisdale, C., Milewicz, D.M., and Mecham, R.P. (1999). Processing of the fibrillin-1 carboxyl-terminal domain J. Biol. Chem 274(13):8933–8940.
  • Todaro, G.J., and Green, H. (1963). Quantitative studies of the growth of mouse embryo cells in culture and their development into established lines J. Cell Biol 17:299–313.
  • Carrle, D., and Bielack, S.S. (2006). Current strategies of chemotherapy in osteosarcoma Int. Orthop 30(6):445–451.
  • Biscaglia, R., Gasbarrini, A., Bohling, T., Bacchini, P., Bertoni, F., and Picci, P. (1998). Osteosarcoma of the bones of the foot – An easily misdiagnosed malignant tumor Mayo Clin. Proc 73(9):842–847.
  • Faivre, L., Collod-Beroud, G., Loeys, B.L., Child, A., Binquet, C., Gautier, E., Callewaert, B., Arbustini, E., Mayer, K., Arslan-Kirchner, M., Kiotsekoglou, A., Comeglio, P., Marziliano, N., Dietz, H.C., Halliday, D., Beroud, C., Bonithon-Kopp, C., Claustres, M., Muti, C., Plauchu, H., Robinson, P.N., Ades, L.C., Biggin, A., Benetts, B., Brett, M., Holman, K.J., De Backer, J., Coucke, P., Francke, U., De Paepe, A., Jondeau, G., and Boileau, C. (2007). Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: An international study Am. J. Hum. Genet 81(3):454–466.
  • Collod-Beroud, G., Beroud, C., Ades, L., Black, C., Boxer, M., Brock, D.J., Holman, K.J., de Paepe, A., Francke, U., Grau, U., Hayward, C., Klein, H.G., Liu, W., Nuytinck, L., Peltonen, L., Alvarez Perez, A.B., Rantamaki, T., Junien, C., and Boileau, C. (1998). Marfan Database (third edition): New mutations and new routines for the software Nucleic Acids Res 26(1):229–223.
  • Putnam, E.A., Cho, M., Zinn, A.B., Towbin, J.A., Byers, P.H., and Milewicz, D.M. (1996). Delineation of the Marfan phenotype associated with mutations in exons 23–32 of the FBN1 gene Am. J. Med. Genet 62(3):233–242.
  • Schrijver, I., Liu, W., Odom, R., Brenn, T., Oefner, P., Furthmayr, H., and Francke, U. (2002). Premature termination mutations in FBN1: Distinct effects on differential allelic expression and on protein and clinical phenotypes Am. J. Hum. Genet 71(2):223–237.
  • Hewett, D., Lynch, J., Child, A., Firth, H., and Sykes, B. (1994). Differential allelic expression of a fibrillin gene (FBN1) in patients with Marfan syndrome Am. J. Hum. Genet 55(3):447–452.
  • Dietz, H.C., McIntosh, I., Sakai, L.Y., Corson, G.M., Chalberg, S.C., Pyeritz, R.E., and Francomano, C.A. (1993). Four novel FBN1 mutations: Significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome Genomics 17(2):468–475.
  • Mendell, J.T., Sharifi, N.A., Meyers, J.L., Martinez-Murillo, F., and Dietz, H.C. (2004). Nonsense surveillance regulates expression of diverse classes of mammalian transcripts and mutes genomic noise Nat. Genet 36(10):1073–1078.
  • Chang, Y.F., Imam, J.S., and Wilkinson, M.F. (2007). The nonsense-mediated decay RNA surveillance pathway Annu. Rev. Biochem 76:51–74.
  • Hutchinson, S., Furger, A., Halliday, D., Judge, D.P., Jefferson, A., Dietz, H.C., Firth, H., and Handford, P.A. (2003). Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: A potential modifier of phenotype? Hum. Mol. Genet 12(18):2269–2276.
  • Booms, P., Pregla, R., Ney, A., Barthel, F., Reinhardt, D.P., Pletschacher, A., Mundlos, S., and Robinson, P.N. (2005). RGD-containing fibrillin-1 fragments upregulate matrix metalloproteinase expression in cell culture: A potential factor in the pathogenesis of the Marfan syndrome Hum. Genet 116(1–2):51–61.
  • Chaudhry, S.S., Cain, S.A., Morgan, A., Dallas, S.L., Shuttleworth, C.A., and Kielty, C.M. (2007). Fibrillin-1 regulates the bioavailability of TGFbeta1 J. Cell Biol 176(3):355–367.
  • Mizuguchi, T., Collod-Beroud, G., Akiyama, T., Abifadel, M., Harada, N., Morisaki, T., Allard, D., Varret, M., Claustres, M., Morisaki, H., Ihara, M., Kinoshita, A., Yoshiura, K., Junien, C., Kajii, T., Jondeau, G., Ohta, T., Kishino, T., Furukawa, Y., Nakamura, Y., Niikawa, N., Boileau, C., and Matsumoto, N. (2004). Heterozygous TGFBR2 mutations in Marfan syndrome Nat. Genet 36(8):855–860.
  • Maleszewski, J.J., Miller, D.V., Lu, J., Dietz, H.C., and Halushka, M.K. (2009). Histopathologic findings in ascending aortas from individuals with Loeys-Dietz syndrome (LDS) Am. J. Surg. Pathol 33(2):194–201.
  • Loeys, B.L., Schwarze, U., Holm, T., Callewaert, B.L., Thomas, G.H., Pannu, H., De Backer, J.F., Oswald, G.L., Symoens, S., Manouvrier, S., Roberts, A.E., Faravelli, F., Greco, M.A., Pyeritz, R.E., Milewicz, D.M., Coucke, P.J., Cameron, D.E., Braverman, A.C., Byers, P.H., De Paepe, A.M., and Dietz, H.C. (2006). Aneurysm syndromes caused by mutations in the TGF-beta receptor N. Engl. J. Med 355(8):788–798.
  • Loeys, B.L., Chen, J., Neptune, E.R., Judge, D.P., Podowski, M., Holm, T., Meyers, J., Leitch, C.C., Katsanis, N., Sharifi, N., Xu, F.L., Myers, L.A., Spevak, P.J., Cameron, D.E., De Backer, J., Hellemans, J., Chen, Y., Davis, E.C., Webb, C.L., Kress, W., Coucke, P., Rifkin, D.B., De Paepe, A.M., and Dietz, H.C. (2005). A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2 Nat. Genet 37(3):275–281.
  • Zavadil, J., and Bottinger, E.P. (2005). TGF-beta and epithelial-to-mesenchymal transitions Oncogene 24(37):5764–5774.
  • Barcellos-Hoff, M.H., and Akhurst, R.J. (2009). Transforming growth factor-beta in breast cancer: Too much, too late Breast Cancer Res 11(1):202.
  • Levy, L., and Hill, C.S. (2006). Alterations in components of the TGF-beta superfamily signaling pathways in human cancer Cytokine Growth Factor Rev 17(1–2):41–58.
  • Dexeus, F.H., Logothetis, C.J., Chong, C., Sella, A., and Ogden, S. (1988). Genetic abnormalities in men with germ cell tumors J. Urol 140(1):80–84.
  • Merks, J.H., Caron, H.N., and Hennekam, R.C. (2005). High incidence of malformation syndromes in a series of 1,073 children with cancer Am. J. Med. Genet. A 134A(2):132–143.
  • Finlay, M., Laperriere, N., and Bristow, R.G. (2005). Radiotherapy and Marfan syndrome: A report of two cases Clin. Oncol. (R. Coll. Radiol.) 17(1):54–56.
  • Newbold, S.G., Shafer, A.D., Goodwin, C.D., Nanagas, V.N., and Dimlich, S.H. (1982). Stage III Wilms’ tumor of a solitary kidney in a patient with Marfan’s syndrome: A 5-yr survival J. Pediatr. Surg 17(6):841–842.
  • Gruber, H.L., and Samuel, J. (1963). Hamartoma of the heart and carcinoma of the tongue associated with Marfan’s syndrome J. Indian Med. Assoc 40:23–28.
  • Riester, J., and Mosher, J.F. (1984). Osteoid osteoma of the capitate: A case report J. Hand Surg. [Am] 9(2):278–280.
  • Kraemer, D.M., Waschke, J., Kunzmann, V., and Wilhelm, M. (2003). Veno-occlusive disease in a male patient with Marfan syndrome and common acute lymphoblastic leukemia during induction therapy Ann. Hematol 82(7):444–447.
  • Copeland, T., Tiwary, C.M., and Coker, S. (1986). Coexistence of neurofibromatosis and Marfan’s syndrome South Med. J 79(4):489–492.
  • Hartlapp, I., Buhring, U., Dichgans, J., and Isenmann, S. (2004). A patient with Marfan’s syndrome and neurofibromatosis type 1 with polyneuropathy Eur. J. Neurol 11(9):641–644.
  • Kouvaraki, M.A., Shapiro, S.E., Perrier, N.D., Cote, G.J., Gagel, R.F., Hoff, A.O., Sherman, S.I., Lee, J.E., and Evans, D.B. (2005). RET proto-oncogene: A review and update of genotype-phenotype correlations in hereditary medullary thyroid cancer and associated endocrine tumors Thyroid 15(6):531–544.
  • Billiau, A., Edy, V.G., Heremans, H., Van Damme, J., Desmyter, J., Georgiades, J.A., and De Somer, P. (1977). Human interferon: Mass production in a newly established cell line, MG-63 Antimicrob Agents Chemother 12(1):11–15.
  • Pytela, R., Pierschbacher, M.D., and Ruoslahti, E. (1985). A 125/115-kDa cell surface receptor specific for vitronectin interacts with the arginine-glycine-aspartic acid adhesion sequence derived from fibronectin Proc. Natl Acad. Sci. U. S. A 82(17):5766–5770.
  • Suzuki, S., Argraves, W.S., Arai, H., Languino, L.R., Pierschbacher, M.D., and Ruoslahti, E. (1987). Amino acid sequence of the vitronectin receptor alpha subunit and comparative expression of adhesion receptor mRNAs J. Biol. Chem 262(29):14080–14085.
  • Dedhar, S., Argraves, W.S., Suzuki, S., Ruoslahti, E., and Pierschbacher, M.D. (1987). Human osteosarcoma cells resistant to detachment by an Arg-Gly-Asp-containing peptide overproduce the fibronectin receptor J. Cell Biol 105(3):1175–1182.
  • Dzamba, B.J., Keene, D.R., Isogai, Z., Charbonneau, N.L., Karaman-Jurukovska, N., Simon, M., and Sakai, L.Y. (2001). Assembly of epithelial cell fibrillins J. Invest. Dermatol 117(6):1612–1620.
  • Kozel, B.A., Ciliberto, C.H., and Mecham, R.P. (2004). Deposition of tropoelastin into the extracellular matrix requires a competent elastic fiber scaffold but not live cells Matrix Biol 23(1):23–34.
  • Ritty, T.M., Broekelmann, T.J., Werneck, C.C., and Mecham, R.P. (2003). Fibrillin-1 and -2 contain heparin-binding sites important for matrix deposition and that support cell attachment Biochem. J 375(Pt 2):425–432.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.