دورية أكاديمية
Identification of Mutation in Neuroblastoma on the Point of Molecular Heterogeneity
| العنوان: | Identification of Mutation in Neuroblastoma on the Point of Molecular Heterogeneity |
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| المؤلفون: | Tekincan Çağrı Aktaş MD, PhD, Deniz Kızmazoğlu MD, PhD, Safiye Aktaş MD, PhD, Özde Elif Gökbayrak MSc, PhD, Efe Serinan MSc, PhD, Aylin Erol MSc, PhD, Zekiye Altun MD, PhD, Hongling Yuan MD, MSc, Hatice Nur Olgun MD |
| المصدر: | Technology in Cancer Research & Treatment, Vol 22 (2023) |
| بيانات النشر: | SAGE Publishing, 2023. |
| سنة النشر: | 2023 |
| المجموعة: | LCC:Neoplasms. Tumors. Oncology. Including cancer and carcinogens |
| مصطلحات موضوعية: | Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282 |
| الوصف: | Background and Aim In neuroblastoma, anaplastic lymphoma kinase mutations have recently received attention as molecular targets for the treatment of neuroblastoma, as 6% to 10% of patients with neuroblastoma have anaplastic lymphoma kinase mutations. There are little data from the cases in Turkey. We aimed to detect anaplastic lymphoma kinase mutations and molecular heterogeneity in neuroblastoma using next-generation sequencing. This study is the first one with this many cases in Turkey. Methods Next-generation sequencing analysis was performed using an Illumina MiniSeq custom gene panel. Clinically important mutations were selected for the analysis. We also gathered clinical data of the patients from Turkish Pediatric Oncology Group cohorts to associate them with anaplastic lymphoma kinase mutations. This study is a retrospective cross-sectional study. We followed STROBE guideline ( https://www.equator-network.org/reporting-guidelines/strobe/ ) on this study. Results We analyzed anaplastic lymphoma kinase in 108 patients with neuroblastoma, with a mean age of 43.76 months. Pathogenic anaplastic lymphoma kinase mutations were detected in 13 patients (12.04%). We noted that anaplastic lymphoma kinase mutations were primarily observed in intermediate- and high-risk patients ( P = .028). R1275Q and F1174-related mutations were predominant; I1171T, L1226F, S1189F, V1135A, and G1125S mutations were rare. Duplicate samples did not exhibit any heterogeneity. Conclusions We found that F1174 and R1275Q-related anaplastic lymphoma kinase mutations are the most common pathogenic mutations in neuroblastoma. Anaplastic lymphoma kinase mutation status did not show any heterogeneity, and the mutations were correlated with intermediate- or high-risk groups. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1533-0338 15330338 |
| Relation: | https://doaj.org/toc/1533-0338 |
| DOI: | 10.1177/15330338231211138 |
| URL الوصول: | https://doaj.org/article/b74cbe39c43b4420a59edda52eb28096 |
| رقم الأكسشن: | edsdoj.b74cbe39c43b4420a59edda52eb28096 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 15330338 |
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| DOI: | 10.1177/15330338231211138 |