Purpose
Neuroblastoma (NB) is the most common extracranial solid tumor found in children. To identify significant genetic factors for the risk of NB, several genetic studies was conducted mainly for Caucasians and Europeans. However, considering racial differences, there is a possibility that genetic predispositions that contribute to the development of NB are different, and GWAS study has not yet been conducted on Korean NB patients.
Materials and Methods
To identify the genetic variations associated with the risk of pediatric NB in Korean children, we performed a genome-wide association analysis with 296 NB patients and 1000 unaffected controls (total n = 1,296) after data cleaning and filtering as well as imputation of non-genotyped SNPs using IMPUTE v2.3.2.
Results
After adjusting for multiple comparisons, we found 21 statistically significant SNPs associated with the risk of NB (Pcorr < 0.05) within 12 genes (RPTN, MRPS18B, LRRC45, KANSL1L, ARHGEF40, IL15RA, L1TD1, ANO7, LAMA5, OR7G2, SALL4, and NEUROG2). Interestingly, out of these, 12 markers were nonsynonymous SNPs. The SNP rs76015112 was most significantly associated with the risk of NB (p = 8.1E-23, Pcorr = 2.3E-17) and was located in the RPTN gene. In addition, significant nonsynonymous SNPs in ADGRE1 were found in patients with MYCN amplification (rs7256147, p = 2.6E-05). In high-risk group, rs7256147 was observed as a significant SNP (p = 5.9E-06).
Conclusion
Our findings might facilitate improved understanding of the mechanism of pediatric NB pathogenesis. However, functional evaluation and replication of these results in other populations are still needed.
Citations
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Purpose
We conducted a retrospective analysis to determine if adjuvant chemotherapy prolongs overall survival in patients with pathologic stage IB lung adenocarcinoma who had undergone complete resection and were defined as high-risk by a newly developed recurrence risk scoring model.
Materials and Methods
Patientswho underwent curative resection for stage IB lung adenocarcinomawere analyzed with a newly developed recurrence risk scoring model and divided into a low-risk group and a high-risk group. The patients in the high-risk group were retrospectively divided into two groups based on whether they underwent adjuvant chemotherapy or observation. Recurrence-free survival and overall survival were compared between these two groups.
Results
A total of 328 patients who underwent curative resection between 2000 and 2009 were included in this study, of whom 110 (34%) received adjuvant chemotherapy and 218 (67%) underwent observation without additional treatment. According to our risk model, 167 patients (51%) were high-risk and 161 (49%) were low-risk. The 5-year recurrence-free survival rates and overall survival were 84.4% and 91.5% in low-risk patients and 53.9% and 74.7% in high-risk patients (p < 0.001). In high-risk patients, the 5-year overall survival rates were 77% among patients who underwent observation and 87% among those who underwent adjuvant chemotherapy (p=0.019).
Conclusion
Adjuvant chemotherapy prolonged overall survival among high-risk patients who had undergone complete resection for stage IB lung adenocarcinoma.
Citations
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