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3 "Joon Seol Bae"
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Pediatric cancer
Absolute Neutrophil Count after the First Chemotherapy Cycle as a Surrogate Marker for Treatment Outcomes in Patients with Neuroblastoma
Ji Won Lee, Joon Seol Bae, Jin Ho Kim, Hee Won Cho, Hee Young Ju, Keon Hee Yoo, Hong Hoe Koo, Sook-young Woo, Seonwoo Kim, Ki Woong Sung
Cancer Res Treat. 2022;54(1):259-268.   Published online April 12, 2021
DOI: https://doi.org/10.4143/crt.2021.010
AbstractAbstract PDFSupplementary MaterialPubReaderePub
Purpose
We performed this study to determine whether the degree of neutropenia after the first chemotherapy cycle can be used as a surrogate marker of individual susceptibility to chemotherapeutic agents affecting treatment outcome in patients with neuroblastoma.
Materials and Methods
The study included 313 patients who received the first cycle chemotherapy with a CEDC (cisplatin+etoposide+doxorubicin+cyclophosphamide) regimen and had absolute neutrophil count (ANC) data available. The cumulative incidences of progression and treatment-related mortality (TRM) were estimated. To identify genetic variations associated with the ANC, a genome-wide association study (GWAS) was performed.
Results
An ANC of 32.5/μL was determined as the cutoff point to categorize patients into the good and poor prognosis subgroups in terms of progression. Patients with a high nadir ANC had a higher cumulative incidence of progression than those with a low nadir ANC (p < 0.001). In multivariate analysis, high nadir ANC, age, bone marrow involvement, and unfavorable histology were poor prognostic factors. With regard to the TRM, patients with a low nadir ANC (ANC < 51.0/μL) had a higher cumulative incidence of TRM than those with a high nadir ANC (p=0.010). In GWAS, single-nucleotide polymorphisms of LPHN2 and CRHR1 were significantly associated with the nadir ANC.
Conclusion
In neuroblastoma patients, the degree of neutropenia after the first chemotherapy cycle can be used as a surrogate marker to predict an individual’s susceptibility to chemotherapeutic agents. Tailoring of treatment based on the degree of neutropenia needs to be considered.

Citations

Citations to this article as recorded by  
  • Impact of 10% Dose Reductions and Duration of Treatment Delays in the Management of Chemotherapy‐Induced Neutropenia in Dogs Treated With Common Chemotherapy Protocols: A Single‐Centre Experience
    Suzanne Busser, Laura Blackwood, Constanza Pereira, Margo Chase‐Topping, Spela Bavcar, Quentin Fournier
    Veterinary and Comparative Oncology.2024; 22(4): 542.     CrossRef
  • Targeting the myeloid microenvironment in neuroblastoma
    Marjolein C. Stip, Loes Teeuwen, Miranda P. Dierselhuis, Jeanette H. W. Leusen, Daniëlle Krijgsman
    Journal of Experimental & Clinical Cancer Research.2023;[Epub]     CrossRef
  • 9,877 View
  • 171 Download
  • 2 Web of Science
  • 2 Crossref
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Pediatric malignancy
Genome-Wide Association Study for the Identification of Novel Genetic Variants Associated with the Risk of Neuroblastoma in Korean Children
Joon Seol Bae, Ji Won Lee, Jung Eun Yoo, Je-Gun Joung, Keon Hee Yoo, Hong Hoe Koo, Yun-Mi Song, Ki Woong Sung
Cancer Res Treat. 2020;52(4):1251-1261.   Published online June 30, 2020
DOI: https://doi.org/10.4143/crt.2020.140
AbstractAbstract PDFSupplementary MaterialPubReaderePub
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

Citations to this article as recorded by  
  • Expression of anoctamin 7 (ANO7) is associated with poor prognosis and mucin 2 (MUC2) in colon adenocarcinoma: a study based on TCGA data
    Chen Chen, Siripat Aluksanasuwan, Keerakarn Somsuan
    Genomics & Informatics.2023; 21(4): e46.     CrossRef
  • An Overview of Long Non-Coding (lnc)RNAs in Neuroblastoma
    Francesca Baldini, Matilde Calderoni, Laura Vergani, Paola Modesto, Tullio Florio, Aldo Pagano
    International Journal of Molecular Sciences.2021; 22(8): 4234.     CrossRef
  • 9,602 View
  • 156 Download
  • 10 Web of Science
  • 2 Crossref
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Clinical Targeted Next-Generation sequencing Panels for Detection of Somatic Variants in Gliomas
Hyemi Shin, Jason K. Sa, Joon Seol Bae, Harim Koo, Seonwhee Jin, Hee Jin Cho, Seung Won Choi, Jong Min Kyoung, Ja Yeon Kim, Yun Jee Seo, Je-Gun Joung, Nayoung K. D. Kim, Dae-Soon Son, Jongsuk Chung, Taeseob Lee, Doo-Sik Kong, Jung Won Choi, Ho Jun Seol, Jung-Il Lee, Yeon-Lim Suh, Woong-Yang Park, Do-Hyun Nam
Cancer Res Treat. 2020;52(1):41-50.   Published online May 7, 2019
DOI: https://doi.org/10.4143/crt.2019.036
AbstractAbstract PDFSupplementary MaterialPubReaderePub
Purpose
Targeted next-generation sequencing (NGS) panels for solid tumors have been useful in clinical framework for accurate tumor diagnosis and identifying essential molecular aberrations. However, most cancer panels have been designed to address a wide spectrum of pan-cancer models, lacking integral prognostic markers that are highly specific to gliomas.
Materials and Methods
To address such challenges, we have developed a glioma-specific NGS panel, termed “GliomaSCAN,” that is capable of capturing single nucleotide variations and insertion/deletion, copy number variation, and selected promoter mutations and structural variations that cover a subset of intron regions in 232 essential glioma-associated genes. We confirmed clinical concordance rate using pairwise comparison of the identified variants from whole exome sequencing (WES), immunohistochemical analysis, and fluorescence in situ hybridization.
Results
Our panel demonstrated high sensitivity in detecting potential genomic variants that were present in the standard materials. To ensure the accuracy of our targeted sequencing panel, we compared our targeted panel to WES. The comparison results demonstrated a high correlation. Furthermore, we evaluated clinical utility of our panel in 46 glioma patients to assess the detection capacity of potential actionable mutations. Thirty-two patients harbored at least one recurrent somatic mutation in clinically actionable gene.
Conclusion
We have established a glioma-specific cancer panel. GliomaSCAN highly excelled in capturing somatic variations in terms of both sensitivity and specificity and provided potential clinical implication in facilitating genome-based clinical trials. Our results could provide conceptual advance towards improving the response of genomically guided molecularly targeted therapy in glioma patients.

Citations

Citations to this article as recorded by  
  • Revisiting Diffuse Gliomas in the Era of Precision Medicine: Molecular Insights and Therapeutic Implications
    Michele Massimino, Stefania Stella, Giuseppe Di Grazia, Cristina Tomarchio, Silvia Rita Vitale, Federica Martorana, Gabriella Pellegriti, Gaetano Magro, Giuseppe Broggi, Lucia Salvatorelli, Rosario Caltabiano, Livia Manzella, Paolo Vigneri
    Critical Reviews in Oncology/Hematology.2026; : 105511.     CrossRef
  • Whole-Genome Sequencing Reveals a Novel GATA2 Mutation in Lower-Grade Glioma: Bioinformatics Analysis of Functional and Therapeutic Implications
    Handoko, Vincent Lau, Eka Susanto, Renindra Ananda Aman, Didik Setyo Heriyanto, Soehartati A. Gondhowiardjo
    Cancers.2025; 17(20): 3338.     CrossRef
  • Comparative genomic landscape of lower-grade glioma and glioblastoma
    Xinxin Sun, Qingbin Jia, Kun Li, Conghui Tian, Lili Yi, Lili Yan, Juan Zheng, Xiaodong Jia, Mingliang Gu, Michael C. Burger
    PLOS ONE.2024; 19(8): e0309536.     CrossRef
  • Actionable molecular alterations in newly diagnosed and recurrent IDH1/2 wild-type glioblastoma patients and therapeutic implications: a large mono-institutional experience using extensive next-generation sequencing analysis
    Marta Padovan, Marta Maccari, Alberto Bosio, Chiara De Toni, Salvatore Vizzaccaro, Ilaria Cestonaro, Martina Corrà, Mario Caccese, Giulia Cerretti, Vittorina Zagonel, Giuseppe Lombardi
    European Journal of Cancer.2023; 191: 112959.     CrossRef
  • GPX8 regulates pan-apoptosis in gliomas to promote microglial migration and mediate immunotherapy responses
    Zigui Chen, Dandan Zheng, Ziren Lin, Chunyuan Zhang, Cheng Wei, Xiandong Deng, Peng Yan, Chuanhua Zheng, Chuanliu Lan, Chengjian Qin, Xuanlei Wei, Deling Qin, Yongfang Wu, Jun Peng, Changfeng Miao, Liuxue Lu, Ying Xia, Qisheng Luo
    Frontiers in Immunology.2023;[Epub]     CrossRef
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    Alina Penkova, Olga Kuziakova, Valeriia Gulaia, Vladlena Tiasto, Nikolay V. Goncharov, Daria Lanskikh, Valeriia Zhmenia, Ivan Baklanov, Vladislav Farniev, Vadim Kumeiko
    Frontiers in Molecular Biosciences.2023;[Epub]     CrossRef
  • A rapid, multiplex digital PCR assay to detect gene variants and fusions in non‐small cell lung cancer
    Bryan Leatham, Katie McNall, Hari K. K. Subramanian, Lucien Jacky, John Alvarado, Dominic Yurk, Mimi Wang, Donald C. Green, Gregory J. Tsongalis, Aditya Rajagopal, Jerrod J. Schwartz
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  • Next generation sequencing in adult patients with glioblastoma in Switzerland: a multi-centre decision analysis
    A. M. Zeitlberger, P. M. Putora, S. Hofer, P. Schucht, D. Migliorini, A. F. Hottinger, U. Roelcke, H. Läubli, P. Spina, O. Bozinov, M. Weller, M. C. Neidert, T. Hundsberger
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    J. K. Petersen, H. B. Boldt, M. D. Sørensen, S. Blach, R. H. Dahlrot, S. Hansen, M. Burton, M. Thomassen, T. Kruse, F. R. Poulsen, L. Andreasen, H. Hager, B. P. Ulhøi, S. Lukacova, G. Reifenberger, B. W. Kristensen
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    Yu Ah Hong, Ki Cheol Park, Bong Kyun Kim, Jina Lee, Woo Young Sun, Hae Joung Sul, Kyung-Ah Hwang, Won Jung Choi, Yoon-Kyung Chang, Suk Young Kim, Soyoung Shin, Joonhong Park
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  • Multisite verification of the accuracy of a multi-gene next generation sequencing panel for detection of mutations and copy number alterations in solid tumours
    John Bartlett, Yutaka Amemiya, Heleen Arts, Jane Bayani, Barry Eng, Daria Grafodatskaya, Suzanne Kamel Reid, Mathieu Lariviere, Bryan Lo, Rebecca McClure, Vinay Mittal, Bekim Sadikovic, Seth Sadis, Arun Seth, Jeff Smith, Xiao Zhang, Harriet Feilotter, Alv
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  • Development and validation of an expanded targeted sequencing panel for non-invasive prenatal diagnosis of sporadic skeletal dysplasia
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  • Therapeutic Efficacy of GC1118, a Novel Anti-EGFR Antibody, against Glioblastoma with High EGFR Amplification in Patient-Derived Xenografts
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  • 15,270 View
  • 486 Download
  • 16 Web of Science
  • 15 Crossref
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