c.1810C>T Polymorphism of NTRK1 Gene is associated with reduced Survival in Neuroblastoma Patients

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• 作者：Beata S Lipska (1) (2)
  El?bieta Dro?ynska (2)
  Paola Scaruffi (3)
  Gian Paolo Tonini (3)
  Ewa I?ycka-?wieszewska (4)
  Szymon Zi?tkiewicz (5)
  Anna Balcerska (2)
  Danuta Perek (6)
  Alicja Chybicka (7)
  Wojciech Biernat (8)
  Janusz Limon (1)
  
• 刊名：BMC Cancer
• 出版年：2009
• 出版时间：December 2009
• 年：2009
• 卷：9
• 期：1
• 全文大小：1141KB
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• 作者单位：Beata S Lipska (1) (2)
  El?bieta Dro?ynska (2)
  Paola Scaruffi (3)
  Gian Paolo Tonini (3)
  Ewa I?ycka-?wieszewska (4)
  Szymon Zi?tkiewicz (5)
  Anna Balcerska (2)
  Danuta Perek (6)
  Alicja Chybicka (7)
  Wojciech Biernat (8)
  Janusz Limon (1)
  
  1. Department of Biology and Genetics, Medical University of Gdańsk, D?binki 1, 80-211, Gdańsk, Poland
  2. Institute of Pediatrics, Medical University of Gdańsk, D?binki 7, 80-211, Gdańsk, Poland
  3. Translational Pediatric Oncology, National Cancer Research Institute, L.go R. Benzi, 10 16132, Genoa, Italy
  4. Department of Pathology, Medical University of Gdańsk, D?binki 7, 80-211, Gdańsk, Poland
  5. Department of Molecular and Cellular Biology, Intercollegiate Faculty of Biotechnology, University of Gdańsk, K?adki 24, Gdańsk, 80-822, Poland
  6. Department of Oncology, Memorial Health Institute, Aleja Dzieci olskich 20, 04-736, Warszawa, Poland
  7. Department of Bone Marrow Transplantation, Pediatric Oncology and Hematology, Medical University of Wroc?aw, Bujwida 44, 50- 368, Wroc?aw, Poland
  8. Department of Neuropathology and Molecular Pathology, Medical University of Gdańsk, D?binki 7, 80-211, Gdańsk, Poland
  
• ISSN：1471-2407

文摘

Background TrkA (encoded by NTRK1 gene), the high-affinity tyrosine kinase receptor for neurotrophins, is involved in neural crest cell differentiation. Its expression has been reported to be associated with a favourable prognosis in neuroblastoma. Therefore, the entire coding sequence of NTRK1 gene has been analysed in order to identify mutations and/or polymorphisms which may alter TrkA receptor expression. Methods DNA was extracted from neuroblastomas of 55 Polish and 114 Italian atients and from peripheral blood leukocytes of 158 healthy controls. Denaturing High-Performance Liquid Chromatography (DHPLC) and Single-Strand Conformation Polymorphism (SSCP) analysis were used to screen for sequence variants. Genetic changes were confirmed by direct sequencing and correlated with biological and clinical data. Results Three previously reported and nine new single nucleotide polymorphisms were detected. c.1810C>T olymorphism present in 8.7% of cases was found to be an independent marker of disease recurrence (OR = 13.3; p = 0.009) associated with lower survival rates (HR = 4.45 p = 0.041). c.1810C>T polymorphism's unfavourable prognostic value was most significant in patients under 18 months of age with no MYCN amplification (HR = 26; p = 0.008). In-silico analysis of the c.1810C>T polymorphism suggests that the substitution of the corresponding amino acid residue within the conservative region of the tyrosine kinase domain might theoretically interfere with the functioning of the TrkA protein. Conclusions NTRK1 c.1810C>T polymorphism appears to be a new independent prognostic factor of poor outcome in neuroblastoma, especially in children under 18 months of age with no MYCN amplification.