Receptor tyrosine kinase mutations in developmental syndromes and cancer: Two sides of the same coin

Human Molecular Genetics

Volumn 24, Issue R1, 2015, Pages R60-R66

  McDonell, Laura M ^a   Kernohan, Kristin D ^a   Boycott, Kym M ^a   Sawyer, Sarah L ^a  

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN TYROSINE KINASE;

CANCER GENETICS; CANCER SUSCEPTIBILITY; CARCINOGENESIS; DEVELOPMENTAL DISORDER; DEVELOPMENTAL GENETICS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC HETEROGENEITY; GENETIC SUSCEPTIBILITY; HUMAN; KINASOPATHY; MORPHOGENESIS; MUTATION RATE; NEOPLASM; PHENOTYPE; PRIORITY JOURNAL; REVIEW; EMBRYO DEVELOPMENT; GENETICS; METABOLISM; MUTATION; SIGNAL TRANSDUCTION; SYNDROME;

CARCINOGENESIS; EMBRYONIC DEVELOPMENT; HUMANS; MORPHOGENESIS; MUTATION; NEOPLASMS; RECEPTOR PROTEIN-TYROSINE KINASES; SIGNAL TRANSDUCTION; SYNDROME;

EID: 84943793614     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv254     Document Type: Review

References (54)

1. Blume-Jensen, P. and Hunter, T. (2001) Oncogenic kinase signalling. Nature, 411, 355-365.
2. Robinson, D.R., Wu, Y.M. and Lin, S.F. (2000) The protein tyrosine kinase family of the human genome. Oncogene, 19, 5548-5557.
3. Lemmon, M.A. and Schlessinger, J. (2010) Cell signaling by receptor tyrosine kinases. Cell, 141, 1117-1134.
4. Lahiry, P., Torkamani, A., Schork, N.J. and Hegele, R.A. (2010) Kinase mutations in human disease: interpreting genotypephenotype relationships. Nat. Rev. Genet., 11, 60-74.
5. Heldin, C.H. (1995) Dimerization of cell surface receptors in signal transduction. Cell, 80, 213-223.
6. Schlessinger, J. (2000) Cell signaling by receptor tyrosine kinases. Cell, 103, 211-225.
7. Casaletto, J.B. and McClatchey, A.I. (2012) Spatial regulation of receptor tyrosine kinases in development and cancer. Nat. Rev. Cancer, 12, 387-400.
8. Haglund, K., Sigismund, S., Polo, S., Szymkiewicz, I., Di Fiore, P.P. and Dikic, I. (2003) Multiple monoubiquitination of RTKs is sufficient for their endocytosis and degradation. Nat. Cell Biol., 5, 461-466.
9. Adrain, C. and Freeman, M. (2014) Regulation of receptor tyrosine kinase ligand processing. Cold Spring Harb. Perspect. Biol., 6, 1-17.
10. Greulich, H. and Pollock, P.M. (2011) Targetingmutant fibroblast growth factor receptors in cancer. TrendsMol. Med., 17, 283-292.
11. Jhiang, S.M. (2000) The RET proto-oncogene in human cancers. Oncogene, 19, 5590-5597.
12. Amberger, J.S., Bocchini, C.A., Schiettecatte, F., Scott, A.F. and Hamosh, A. (2015) OMIM.org: Online Mendelian Inheritance in Man (OMIM(R)), an online catalog of human genes and genetic disorders. Nucleic Acids Res., 43, D789-D798.
13. Labrador, J.P., Azcoitia, V., Tuckermann, J., Lin, C., Olaso, E., Manes, S., Bruckner, K., Goergen, J.L., Lemke, G., Yancopoulos, G. et al. (2001) The collagen receptor DDR2 regulates proliferation and its elimination leads to dwarfism. EMBO Reports, 2, 446-452.
14. Ornitz, D.M. and Marie, P.J. (2002) FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease. Genes Dev., 16, 1446-1465.
15. Billiard, J., Way, D.S., Seestaller-Wehr, L.M., Moran, R.A., Mangine, A. and Bodine, P.V. (2005) The orphan receptor tyrosine kinase Ror2 modulates canonical Wnt signaling in osteoblastic cells. Mol. Endocrinol., 19, 90-101.
16. Maeda, K., Kobayashi, Y., Udagawa, N., Uehara, S., Ishihara, A., Mizoguchi, T., Kikuchi, Y., Takada, I., Kato, S., Kani, S. et al. (2012) Wnt5a-Ror2 signaling between osteoblast-lineage cells and osteoclast precursors enhances osteoclastogenesis. Nat. Med., 18, 405-412.
17. Narkis, G., Ofir, R., Manor, E., Landau, D., Elbedour, K. and Birk, O.S. (2007) Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway. Am. J. Hum. Genet., 81, 589-595.
18. Hojlund, K., Hansen, T., Lajer, M., Henriksen, J.E., Levin, K., Lindholm, J., Pedersen, O. and Beck-Nielsen, H. (2004) A novel syndrome of autosomal-dominant hyperinsulinemic hypoglycemia linked to a mutation in the human insulin receptor gene. Diabetes, 53, 1592-1598.
19. Psiachou, H., Mitton, S., Alaghband-Zadeh, J., Hone, J., Taylor, S.I. and Sinclair, L. (1993) Leprechaunism and homozygous nonsense mutation in the insulin receptor gene. Lancet, 342, 924.
20. Kadowaki, T., Kadowaki, H., Rechler, M.M., Serrano-Rios, M., Roth, J., Gorden, P. and Taylor, S.I. (1990) Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance. J. Clin. Invest., 86, 254-264.
21. Stenson, P.D., Mort, M., Ball, E.V., Shaw, K., Phillips, A. and Cooper, D.N. (2014) The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum. Genet., 133, 1-9.
22. Landrum, M.J., Lee, J.M., Riley, G.R., Jang, W., Rubinstein, W.S., Church, D.M. and Maglott, D.R. (2014) ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res., 42, D980-D985.
23. Karkkainen, M.J., Ferrell, R.E., Lawrence, E.C., Kimak, M.A., Levinson, K.L., McTigue, M.A., Alitalo, K. and Finegold, D.N. (2000) Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema. Nat. Genet., 25, 153-159.
24. Bellus, G.A., Hefferon, T.W., De Ortiz Luna, R.I., Hecht, J.T., Horton, W.A., Machado, M., Kaitila, I., McIntosh, L. and Francomano, C.A. (1995) Achondroplasia is defined by recurrent G380R mutations of FGFR3. Am. J. Hum. Genet., 56, 367-373.
25. Beenken, A. and Mohammadi, M. (2009) The FGF family: biology, pathophysiology and therapy. Nat. Rev. Drug Discov., 8, 235-253.
26. Li, A.W. and Murphy, P.R. (2000) Expression of alternatively spliced FGF-2 antisense RNA transcripts in the central nervous system: regulation of FGF-2 mRNA translation. Mol. Cell. Endocrinol., 162, 69-78.
27. Schell, U., Hehr, A., Feldman, G.J., Robin, N.H., Zackai, E.H., de Die-Smulders, C., Viskochil, D.H., Stewart, J.M., Wolff, G., Ohashi, H. et al. (1995) Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. Hum. Mol. Genet., 4, 323-328.
28. White, K.E., Cabral, J.M., Davis, S.I., Fishburn, T., Evans, W.E., Ichikawa, S., Fields, J., Yu, X., Shaw, N.J., McLellan, N.J. et al. (2005) Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation. Am. J. Hum. Genet., 76, 361-367.
29. Pitteloud, N., Acierno, J.S. Jr., Meysing, A., Eliseenkova, A.V., Ma, J., Ibrahimi, O.A., Metzger, D.L., Hayes, F.J., Dwyer, A.A., Hughes, V.A. et al. (2006) Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. Proc. Natl. Acad. Sci. U. S. A., 103, 6281-6286.
30. Bellus, G.A., Spector, E.B., Speiser, P.W., Weaver, C.A., Garber, A.T., Bryke, C.R., Israel, J., Rosengren, S.S., Webster, M.K., Donoghue, D.J. et al. (2000) Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype. Am. J. Hum. Genet., 67, 1411-1421.
31. Shams, I., Rohmann, E., Eswarakumar, V.P., Lew, E.D., Yuzawa, S., Wollnik, B., Schlessinger, J. and Lax, I. (2007) Lacrimo-auriculo-dento-digital syndrome is caused by reduced activity of the fibroblast growth factor 10 (FGF10)-FGF receptor 2 signaling pathway. Mol. Cell. Biol., 27, 6903-6912.
32. Rohmann, E., Brunner, H.G., Kayserili, H., Uyguner, O., Nurnberg, G., Lew, E.D., Dobbie, A., Eswarakumar, V.P., Uzumcu, A., Ulubil-Emeroglu, M. et al. (2006) Mutations in different components of FGF signaling in LADD syndrome. Nat. Genet., 38, 414-417.
33. Lew, E.D., Bae, J.H., Rohmann, E., Wollnik, B. and Schlessinger, J. (2007) Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation. Proc. Natl. Acad. Sci. U. S. A., 104, 19802-19807.
34. Takagi, M., Kaneko-Schmitt, S., Suzumori, N., Nishimura, G. and Hasegawa, T. (2012) Atypical achondroplasia due to somatic mosaicism for the common thanatophoric dysplasia mutation R248C. Am. J. Med. Genet. A, 158A, 247-250.
35. Hafner, C., van Oers, J.M., Vogt, T., Landthaler, M., Stoehr, R., Blaszyk, H., Hofstaedter, F., Zwarthoff, E.C. and Hartmann, A. (2006) Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi. J. Clin. Invest., 116, 2201-2207.
36. Morrison, P.J. and Nevin, N.C. (1996) Multiple endocrine neoplasia type 2B (mucosal neuroma syndrome, Wagenmann-Froboese syndrome). J. Med. Genet., 33, 779-782.
37. Andreou, A., Lamy, A., Layet, V., Cailliez, D., Gobet, F., Pfister, C., Menard, M. and Frebourg, T. (2006) Early-onset low-grade papillary carcinoma of the bladder associated with Apert syndrome and a germline FGFR2 mutation (Pro253Arg). Am. J. Med. Genet. A, 140, 2245-2247.
38. Rouzier, C., Soler, C., Hofman, P., Brennetot, C., Bieth, E. and Pedeutour, F. (2008) Ovarian dysgerminoma and Apert syndrome. Pediatr. Blood Cancer, 50, 696-698.
39. Dutt, A., Salvesen, H.B., Chen, T.H., Ramos, A.H., Onofrio, R.C., Hatton, C., Nicoletti, R., Winckler, W., Grewal, R., Hanna, M. et al. (2008) Drug-sensitive FGFR2 mutations in endometrial carcinoma. Proc. Natl. Acad. Sci. U. S. A., 105, 8713-8717.
40. Negrini, S., Gorgoulis, V.G. and Halazonetis, T.D. (2010) Genomic instability--an evolving hallmark of cancer. Nat. Rev. Mol. Cell Biol., 11, 220-228.
41. Pon, J.R. and Marra, M.A. (2015) Driver and passenger mutations in cancer. Annu. Rev. Pathol., 10, 25-50.
42. Bellacosa, A. (2013) Developmental disease and cancer: biological and clinical overlaps. Am. J. Med. Genet. A, 161A, 2788-2796.
43. Torkamani, A., Verkhivker, G. and Schork, N.J. (2009) Cancer driver mutations in protein kinase genes. Cancer Lett., 281, 117-127.
44. Forbes, S.A., Tang, G., Bindal, N., Bamford, S., Dawson, E., Cole, C., Kok, C.Y., Jia, M., Ewing, R., Menzies, A. et al. (2010) COSMIC (the Catalogue of Somatic Mutations in Cancer): a resource to investigate acquired mutations in human cancer. Nucleic Acids Res., 38, D652-D657.
45. Reindl, C., Bagrintseva, K., Vempati, S., Schnittger, S., Ellwart, J.W., Wenig, K., Hopfner, K.P., Hiddemann, W. and Spiekermann, K. (2006) Point mutations in the juxtamembrane domain of FLT3 define a new class of activating mutations in AML. Blood, 107, 3700-3707.
46. Frohling, S., Scholl, C., Levine, R.L., Loriaux, M., Boggon, T.J., Bernard, O.A., Berger, R., Dohner, H., Dohner, K., Ebert, B.L. et al. (2007) Identification of driver and passenger mutations of FLT3 by high-throughput DNA sequence analysis and functional assessment of candidate alleles. Cancer Cell, 12, 501-513.
47. van Rhijn, B.W., van Tilborg, A.A., Lurkin, I., Bonaventure, J., de Vries, A., Thiery, J.P., van der Kwast, T.H., Zwarthoff, E.C. and Radvanyi, F. (2002) Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disorders. Eur. J. Hum. Genet., 10, 819-824.
48. Pollock, P.M., Gartside, M.G., Dejeza, L.C., Powell, M.A., Mallon, M.A., Davies, H., Mohammadi, M., Futreal, P.A., Stratton, M.R., Trent, J.M. et al. (2007) Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes. Oncogene, 26, 7158-7162.
49. Goriely, A., Hansen, R.M., Taylor, I.B., Olesen, I.A., Jacobsen, G. K., McGowan, S.J., Pfeifer, S.P., McVean, G.A., Rajpert-De Meyts, E. and Wilkie, A.O. (2009) Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors. Nat. Genet., 41, 1247-1252.
50. Cappellen, D., De Oliveira, C., Ricol, D., de Medina, S., Bourdin, J., Sastre-Garau, X., Chopin, D., Thiery, J.P. and Radvanyi, F. (1999) Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. Nat. Genet., 23, 18-20.
51. Chesi, M., Brents, L.A., Ely, S.A., Bais, C., Robbiani, D.F., Mesri, E.A., Kuehl, W.M. and Bergsagel, P.L. (2001) Activated fibroblast growth factor receptor 3 is an oncogene that contributes to tumor progression in multiple myeloma. Blood, 97, 729-736.
52. Gupta, S. and El-Rayes, B.F. (2008) Small molecule tyrosine kinase inhibitors in pancreatic cancer. Biologics, 2, 707-715.
53. Esteva, F.J. (2004) Monoclonal antibodies, small molecules, and vaccines in the treatment of breast cancer. Oncologist, 9 (Suppl 3), 4-9.
54. Qi, X.S., Guo, X.Z., Han, G.H., Li, H.Y. and Chen, J. (2015) MET inhibitors for treatment of advanced hepatocellular carcinoma: a review. World J. Gastroenterol., 21, 5445-5453.