c.1810C&gt;T Polymorphism of NTRK1Gene is associated with reduced Survival in Neuroblastoma Patients

Lipska, Beata S.; Drożyńska, Elżbieta; Scaruffi, Paola; Tonini, Gian Paolo; Iżycka‐Świeszewska, Ewa; Ziętkiewicz, Szymon; Balcerska, Anna; Perek, Danuta; Chybicka, Alicja; Biernat, Wojciech; Limon, Janusz

doi:10.1186/1471-2407-9-436

Cited by 7 publications

(4 citation statements)

References 28 publications

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“…TrkA is involved in neural crest cell differentiation, and its expression has been reported to be associated with a favourable prognosis in neuroblastoma [ 98 , 99 ]. NTRK1 has been detected in NB to undertake c.1810C > T mutation, which is common in NB for baby younger than 18 months without MYCN multiplication [ 100 ].…”

Section: Somatic Mutations In Nbmentioning

confidence: 99%

Research progress of neuroblastoma related gene variations

Cao

Jin

et al. 2016

Oncotarget

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Neuroblastoma, the most common extracranial solid tumor among children, is an embryonal tumor originating from undifferentiated neural crest cell. Neuroblastomas are highly heterogeneous, represented by the wide range of clinical presentations and likelihood of cure, ranging from spontaneous regression to relentless progression despite rigorous multimodal treatments. Approximately, 50% of cases are high-risk with overall survival rates less than 40%. With the efforts to collect large numbers of clinically annotated specimens and the advancements in technologies, researchers have revealed numerous genetic alterations that may drive tumor growth. However, the most lack mutations in genes that are recurrently mutated, which inspires researchers to identify disrupted pathways instead of single mutated genes to unearth biological systems perturbed in neuroblastoma. Stratification of patients and target therapy based on their molecular signatures have been the center of focus. This review provides a comprehensive summary of the recent advances in identification of candidate genes variations, targeted approaches to high-risk neuroblastoma and evaluates the methods utilized for detection, which will provide new avenues to develop therapies and further genetic researches.

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Section: Somatic Mutations In Nbmentioning

confidence: 99%

Research progress of neuroblastoma related gene variations

Cao

Jin

et al. 2016

Oncotarget

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“…Although, TrkA gene rearrangements have not been described in NB, a c.1810 C>T TrkA polymorphism has been detected in approximately 9% of NB, with potential to predict disease relapse in non-Nmyc amplified NB [302].…”

Section: Neurotrophins and Neurotrophin Receptors In Human Neuroblastmentioning

confidence: 99%

Neurotrophin and Neurotrophin Receptor Involvement in Human Neuroblastoma

Ruggeri¹,

Farina²,

Cappabianca³

et al. 2013

Neuroblastoma

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“…However the clinical importance of NGFR expression is less clear [7]. Human NTRK1 maps to 1q32-41 [15], but specific mutations or activating rearrangements are quite rare [16,17]. Low-stage NBs usually express high NTRK1 and differentiate in vitro in the presence of NGF, but undergo apoptosis in its absence [6,18].…”

Section: Introductionmentioning

confidence: 99%

Clinical significance of NTRK family gene expression in neuroblastomas

Light

Koyama

Minturn

et al. 2011

Pediatric Blood & Cancer

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Background Neuroblastomas (NBs) are characterized by clinical heterogeneity, from spontaneous regression to relentless progression. The pattern of NTRK family gene expression contributes to these disparate behaviors. TrkA/NTRK1 is expressed in favorable NBs that regress or differentiate, whereas TrkB/NTRK2 and its ligand BDNF are co-expressed in unfavorable NBs, representing an autocrine survival pathway. We determined the significance of NTRK family gene expression in a large, representative set of primary NBs. Patients and Methods We analyzed the expression of the following genes in 814 NBs using quantitative real-time RT-PCR: NTRK1, NTRK2, NTRK3, P75/NGFR, NGF, BDNF, IGFR1 and EGFR. Expression (high vs. low) was dichotomized by median expression value and compared to clinical and biological variables as well as outcome. Results High NTRK1 expression was strongly correlated with favorable age, stage, MYCN status, histology, ploidy, risk group and outcome (p<0.0001 for all). However, it did not add significantly to the panel of prognostic variables currently used for cooperative group trials. NTRK2 expression was associated with risk factors but not with outcome. High NGF expression was also associated with most risk factors and weakly with unfavorable outcome. Conclusions High expression of NTRK1 is strongly associated with favorable risk factors and outcome in a large, representative population of NB patients. It did not add significantly to the current risk prediction algorithm, but it may contribute to future expression classifiers. Indeed, prospective assessment of NTRK1 and NTRK2 expression will identify tumors that would be candidates for NTRK-targeted therapy, either alone or in combination with conventional agents.

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c.1810C>T Polymorphism of NTRK1Gene is associated with reduced Survival in Neuroblastoma Patients

Cited by 7 publications

References 28 publications

Research progress of neuroblastoma related gene variations

Research progress of neuroblastoma related gene variations

Neurotrophin and Neurotrophin Receptor Involvement in Human Neuroblastoma

Clinical significance of NTRK family gene expression in neuroblastomas

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