Identification of Mutation in Neuroblastoma on the Point of Molecular Heterogeneity
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. W...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
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SAGE Publishing
2023-11-01
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| Series: | Technology in Cancer Research & Treatment |
| Online Access: | https://doi.org/10.1177/15330338231211138 |
| _version_ | 1827762166004973568 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Tekincan Çağrı Aktaş MD, PhD |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-11T10:26:01Z |
| format | Article |
| id | doaj.art-b74cbe39c43b4420a59edda52eb28096 |
| institution | Directory Open Access Journal |
| issn | 1533-0338 |
| language | English |
| last_indexed | 2024-03-11T10:26:01Z |
| publishDate | 2023-11-01 |
| publisher | SAGE Publishing |
| record_format | Article |
| series | Technology in Cancer Research & Treatment |
| spelling | doaj.art-b74cbe39c43b4420a59edda52eb280962023-11-15T14:03:20ZengSAGE PublishingTechnology in Cancer Research & Treatment1533-03382023-11-012210.1177/15330338231211138Identification of Mutation in Neuroblastoma on the Point of Molecular HeterogeneityTekincan Çağrı Aktaş MD, PhD0Deniz Kızmazoğlu MD, PhD1Safiye Aktaş MD, PhD2Özde Elif Gökbayrak MSc, PhD3Efe Serinan MSc, PhD4Aylin Erol MSc, PhD5Zekiye Altun MD, PhD6Hongling Yuan MD, MSc7Hatice Nur Olgun MD8 Institute of Oncology, Department of Basic Oncology, , Izmir, Turkey Institute of Oncology, Department of Clinical Oncology, , Izmir, Turkey Institute of Oncology, Department of Basic Oncology, , Izmir, Turkey Institute of Oncology, Department of Basic Oncology, , Izmir, Turkey Institute of Oncology, Department of Basic Oncology, , Izmir, Turkey Institute of Oncology, Department of Basic Oncology, , Izmir, Turkey Institute of Oncology, Department of Basic Oncology, , Izmir, Turkey Institute of Oncology, Department of Basic Oncology, , Izmir, Turkey Institute of Oncology, Department of Clinical Oncology, , Izmir, TurkeyBackground 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.https://doi.org/10.1177/15330338231211138 |
| spellingShingle | 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 Identification of Mutation in Neuroblastoma on the Point of Molecular Heterogeneity Technology in Cancer Research & Treatment |
| title | Identification of Mutation in Neuroblastoma on the Point of Molecular Heterogeneity |
| title_full | Identification of Mutation in Neuroblastoma on the Point of Molecular Heterogeneity |
| title_fullStr | Identification of Mutation in Neuroblastoma on the Point of Molecular Heterogeneity |
| title_full_unstemmed | Identification of Mutation in Neuroblastoma on the Point of Molecular Heterogeneity |
| title_short | Identification of Mutation in Neuroblastoma on the Point of Molecular Heterogeneity |
| title_sort | identification of mutation in neuroblastoma on the point of molecular heterogeneity |
| url | https://doi.org/10.1177/15330338231211138 |
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