C.1810C>T polymorphism of NTRK1 Gene is associated with reduced survival in neuroblastoma patients

BMC Cancer

Volumn 9, Issue , 2009, Pages

  Lipska, Beata S ^a   Drozynska, Elzbieta ^a   Scaruffi, Paola ^b   Tonini, Gian P ^b   Izycka Świeszewska, Ewa ^a   Zietkiewicz, Szymon ^c   Balcerska, Anna ^a   Perek, Danuta ^d   Chybicka, Alicja ^e   Biernat, Wojciech ^a   Limon, Janusz ^a  

^a MEDICAL UNIVERSITY OF GDANSK   (Poland)

^b UNIVERSITY OF GENOA   (Italy)

^c UNIVERSITY OF GDA SK   (Poland)

^d Memorial Health Institute   (Poland)

^e WROCLAW MEDICAL UNIVERSITY   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; BRAIN DERIVED NEUROTROPHIC FACTOR; CYTOSINE; GENE PRODUCT; GENOMIC DNA; PROTEIN MYCN; PROTEIN NTRK1; PROTEIN TYROSINE KINASE A; THYMINE; TYROSINE KINASE RECEPTOR; UNCLASSIFIED DRUG; MYCN PROTEIN, HUMAN; NUCLEAR PROTEIN; ONCOPROTEIN; TUMOR MARKER;

AMINO ACID SUBSTITUTION; ARTICLE; CANCER RECURRENCE; CANCER SURVIVAL; CHILD; CLINICAL STUDY; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA EXTRACTION; GENE AMPLIFICATION; GENE EXPRESSION; GENETIC ASSOCIATION; GENETIC CODE; GENETIC CONSERVATION; GENETIC CORRELATION; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; ITALY; LEUKOCYTE; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NEUROBLASTOMA; POLAND; PROGNOSIS; PROTEIN DOMAIN; PROTEIN FUNCTION; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SINGLE STRAND CONFORMATION POLYMORPHISM; SURVIVAL RATE; CHEMISTRY; GENETICS; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; INFANT; KAPLAN MEIER METHOD; MORTALITY; PRESCHOOL CHILD; PROTEIN TERTIARY STRUCTURE; SEQUENCE HOMOLOGY; STRUCTURAL HOMOLOGY;

CHILD, PRESCHOOL; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; HUMANS; INFANT; KAPLAN-MEIERS ESTIMATE; NEUROBLASTOMA; NUCLEAR PROTEINS; ONCOGENE PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROGNOSIS; PROTEIN STRUCTURE, TERTIARY; RECEPTOR, TRKA; SEQUENCE HOMOLOGY, AMINO ACID; STRUCTURAL HOMOLOGY, PROTEIN; TUMOR MARKERS, BIOLOGICAL;

EID: 74049088649     PISSN: None     EISSN: 14712407     Source Type: Journal    
DOI: 10.1186/1471-2407-9-436     Document Type: Article

References (32)

1. Isaacs H. Fetal and neonatal neuroblastoma. Retrospective review of 271 cases. Fetal Pediatr Pathol 2007, 26:177-84. 10.1080/15513810701696890, 18075832.
2. Maris JM, Hogarty MD, Bagatell R, Cohn SL. Neuroblastoma. Lancet 2007, 369:2106-20. 10.1016/S0140-6736(07)60983-0, 17586306.
3. Tanaka T, Sugimoto T, Sawada T. Prognostic discrimination among neuroblastomas according to Ha-ras/TrkA gene expression. Cancer 1998, 83:1626-33. 10.1002/(SICI)1097-0142(19981015)83:8<1626::AID-CNCR19>3.0.CO;2-Y, 9781958.
4. Arevalo JC, Wu SH. Neurotrophin signaling: many exciting surprises!. Cell Mol Life Sci 2006, 63:1523-37. 10.1007/s00018-006-6010-1, 16699811.
5. Nakagawara A. Neural crest development and neuroblastoma: the genetic and biological link. Prog Brain Res 2004, 146:233-42.
6. Nakagawara A. Trk receptor kinases: a bridge between cancer and neural development. Cancer Lett 2001, 169:107-14. 10.1016/S0304-3835(01)00530-4, 11431098.
7. Bampton ET, Taylor JS. Effects of Schwann cell secreted factors on PC12 cell neuritogenesis and survival. J Neurobiol 2005, 63:29-48. 10.1002/neu.20119, 15702477.
8. Eggert A, Ikegaki N, Liu X, Chou TT, Lee VM, Trojanowski JQ, Brodeur GM. Molecular dissection of Trk-A signal transduction pathways mediating differentiation in human neuroblastoma. Oncogene 2000, 19:2043-51. 10.1038/sj.onc.1203518, 10803465.
9. Weier HU, Rhein AP, Shadravan F, Collins C, Polikoff D. Rapid physical mapping of the human trk protooncogene (NTRK1) to human chromosome 1q21-q22 by P1 clone selection, fluorescence in situ hybridization (FISH) and computer-assisted microscopy. Genomics 1995, 26:390-3. 10.1016/0888-7543(95)80226-C, 7601468.
10. Greco A, Mariani C, Miranda C, Pagliardini S, Pierotti MA. Characterization of the NTRK1 genomic region involved in chromosomal rearrangements generating TRK oncogenes. Genomics 1993, 18:397-400. 10.1006/geno.1993.1482, 8288244.
11. Tomasson MH, Xiang Z, Walgren R, Zhao Y, Kasai Y, Miner T, Ries RE, Lubman O, Fremont D, McLellan MD, Payton JE, Westervelt P, DiPersio JF, Link DC, Walter MJ, Graubert TA, Watson M, Baty J, Heath S, Shannon WD, Nagarajan R, Bloomfield CD, Mardis ER, Wilson RK, Ley TJ. Somatic mutations and germline sequence variants in the expressed tyrosine kinase genes of patients with de novo acute myeloid leukemia. Blood 2008, 111:4797-808. 10.1182/blood-2007-09-113027, 2343607, 18270328.
12. Marchetti A, Felicioni L, Pelosi G, Del Grammastro M, Fumagalli C, Sciarrotta M, Malatesta S, Chella A, Barassi F, Mucilli F, Camplese P, D'Antuono T, Sacco R, Buttitta F. Frequent mutations in the neurotrophic tyrosine receptor kinase gene family in large cell neuroendocrine carcinoma of the lung. Hum Mutat 2008, 29:609-16. 10.1002/humu.20707, 18293376.
13. Scaruffi P, Cusano R, Dagnino M, Tonini GP. Detection of DNA polymorphisms and point mutations of high-affinity nerve growth factor receptor (TrkA) in human neuroblastoma. Int J Oncol 1999, 14:935-8.
14. Gimm O, Greco A, Hoang-Vu C, Dralle H, Pierotti MA, Eng C. Mutational analysis reveals novel sequence variants in NTRK1 in sporadic human medullary thyroid carcinoma. J Clin Endocrinol Metab 1999, 84:2784-87. 10.1210/jc.84.8.2784, 10443680.
15. George DJ, Suzuki H, Bova GS, Isaacs JT. Mutational analysis of the TrkA gene in prostate cancer. Prostate 1998, 36:172-80. 10.1002/(SICI)1097-0045(19980801)36:3<172::AID-PROS5>3.0.CO;2-J, 9687989.
16. Indo Y. Genetics of congenital insensivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV. Clinical, biological and molecular aspects of mutations in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor. Clin Auton Res 2002, 12(Suppl 1):I20-I32. 10.1007/s102860200016, 12102460.
17. Schramm A, Schulte JH, Astrahantseff K, Apostolov O, Limpt V, Sieverts H, Kuhfittig-Kulle S, Pfeiffer P, Versteeg R, Eggert A. Biological effects of TrkA and TrkB receptor signaling in neuroblastoma. Cancer Lett 2005, 228:143-53. 10.1016/j.canlet.2005.02.051, 15921851.
18. Ratajska M, Brozek I, Senkus-Konefka E, Jassem J, Stepnowska M, Palomba G, Pisano M, Casula M, Palmieri G, Borg A, Limon J. BRCA1 and BRCA2 point mutations and large rearrangements in breast and ovarian cancer families in Northern Poland. Oncol Rep 2008, 19:263-8.
19. Pfam Database of Protein Families. , http://pfam.sanger.ac.uk
20. Protein Data Bank. , http://www.rcsb.org/pdb
21. International HapMap Project. , http://hapmap.ncbi.nlm.nih.gov/
22. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005, 21:263-5. 10.1093/bioinformatics/bth457, 15297300.
23. Till JH, Becerra M, Watty A, Lu Y, Ma Y, Neubert TA, Burden SJ, Hubbard SR. Crystal structure if the MuSK tyrosine kinase: insights into receptor autoregulation. Structure 2002, 10:1187-96. 10.1016/S0969-2126(02)00814-6, 12220490.
24. Mosse YP, Laudenslager M, Longo L, Cole KA, Wood A, Attiyeh EF, Laquaglia MJ, Sennett R, Lynch JE, Perri P, Laureys G, Speleman F, Kim C, Hou C, Hakonarson H, Torkamani A, Schork NJ, Brodeur GM, Tonini GP, Rappaport E, Devoto M, Maris JM. Identification of ALK as a major familial neuroblastoma predisposition gene. Nature 2008, 455:930-935. 10.1038/nature07261, 18724359, 2672043.
25. Serra A, Haberle B, Konig IR, Kappler R, Suttorp M, Schackert HK, Roesner D, Fitze G. Rare occurrence of PHOX2b mutations in sporadic neuroblastomas. J Pediatr Hematol Oncol 2008, 30:728-32. 10.1097/MPH.0b013e3181772141, 19011468.
26. Gerhardus A, Schleberger H, Schlegelberger B, Gadzicki D. Diagnostic accuracy of methods for the detection of BRCA1 and BRCA2 mutations: a systematic review. Eur J Hum Genet 2007, 15:619-27. 10.1038/sj.ejhg.5201806, 17342152.
27. Hoehner JC, Olsen L, Sandstedt B, Kaplan DR, Pahlman S. Association of neurotrophin receptor expression and differentiation in human neuroblastoma. Am J Pathol 1995, 147:102-12. 1869894, 7604872.
28. Mardy S, Miura Y, Endo F, Matsuda I, Indo Y. Congenital insensitivity to pain with anhydrisis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor. Hum Mol Genet 2001, 10:179-88. 10.1093/hmg/10.3.179, 11159935.
29. Spix C, Pastore G, Sankla R, Stiller CA, Steliaroua-Foucher E. Neuroblastoma incidence and survival in European children (1978-1997). Report from Automated Childchood Cancer Information System project. Eur J Cancer 2006, 42:2081-2091. 10.1016/j.ejca.2006.05.008, 16919772.
30. Cattelani S, Defferrari R, Marsilio S, Bussolari R, Candini O, Corradini F, Ferrari-Amorotti G, Guerzoni C, Pecorari L, Menin C, Bertorelle R, Altavista P, McDowell HP, Boldrini R, Dominici C, Tonini GP, Raschellà G, Calabretta B. Impact of a single nucleotide polymorphism in the MDM2 gene on neuroblastoma development and aggressiveness: results of a pilot study on 239 patients. Clin Cancer Res 2008, 14:3248-3253. 10.1158/1078-0432.CCR-07-4725, 18519749.
31. de Pablo Y, Perez-Garcia MJ, Georgieva MV, Sanchis D, Lindqvist N, Soler RM, Comella JX, Llovera M. Tyr-701 is a new regulatory site for neurotrophin receptor TrkA trafficking and function. J Neurochem 2008, 104:124-39.
32. Humphrey W, Dalke A, Schulten K. VMD - Visual Molecular Dynamics. J Mol Graph 1996, 14(1):33-38. 8744570, 10.1016/0263-7855(96)00018-5.