دورية أكاديمية
Somatic mutational profiling and clinical impact of driver genes in Latin-Iberian medulloblastomas: Towards precision medicine.
| العنوان: | Somatic mutational profiling and clinical impact of driver genes in Latin-Iberian medulloblastomas: Towards precision medicine. |
|---|---|
| المؤلفون: | Barateiro LGRP; Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, Brazil., de Oliveira Cavagna R; Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, Brazil., Dos Reis MB; Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, Brazil., de Paula FE; Molecular Diagnostic Laboratory, Barretos Cancer Hospital, Barretos, Brazil., Teixeira GR; Molecular Diagnostic Laboratory, Barretos Cancer Hospital, Barretos, Brazil.; Department of Pathology, Barretos Cancer Hospital, Barretos, Brazil., Moreno DA; Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, Brazil., Bonatelli M; Molecular Diagnostic Laboratory, Barretos Cancer Hospital, Barretos, Brazil., Santana I; Department of Pathology, Barretos Cancer Hospital, Barretos, Brazil., Saggioro FP; Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil., Neder L; Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil., Stavale JN; Federal University of São Paulo, São Paulo, Brazil., Malheiros SMF; Federal University of São Paulo, São Paulo, Brazil., Garcia-Rivello H; Italian Hospital of Buenos Aires, Buenos Aires, Argentina., Christiansen S; Italian Hospital of Buenos Aires, Buenos Aires, Argentina., Nunes S; São João Hospital, Porto, Portugal., da Costa MJG; São João Hospital, Porto, Portugal., Pinheiro J; São João Hospital, Porto, Portugal., Júnior CA; Pediatric Department, Barretos Cancer Hospital, Barretos, Brazil., Mançano BM; Pediatric Department, Barretos Cancer Hospital, Barretos, Brazil., Reis RM; Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, Brazil.; Molecular Diagnostic Laboratory, Barretos Cancer Hospital, Barretos, Brazil.; Life and Health Sciences Research Institute (ICVS), Medical School, University of Minho, Braga, Portugal. |
| المصدر: | Neuropathology : official journal of the Japanese Society of Neuropathology [Neuropathology] 2024 May 12. Date of Electronic Publication: 2024 May 12. |
| Publication Model: | Ahead of Print |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Blackwell Science Asia Country of Publication: Australia NLM ID: 9606526 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1440-1789 (Electronic) Linking ISSN: 09196544 NLM ISO Abbreviation: Neuropathology Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: <2000-> : Melbourne, Australia : Blackwell Science Asia Original Publication: Sendai, Japan : The Society, [1993- |
| مستخلص: | Medulloblastoma (MB) is the most prevalent malignant brain tumor in children, known for its heterogeneity and treatment-associated toxicity, and there is a critical need for new therapeutic targets. We analyzed the somatic mutation profile of 15 driver genes in 69 Latin-Iberian molecularly characterized medulloblastomas using the Illumina TruSight Tumor 15 panel. We classified the variants based on their clinical impact and oncogenicity. Among the patients, 66.7% were MB (© 2024 The Authors. Neuropathology published by John Wiley & Sons Australia, Ltd on behalf of Japanese Society of Neuropathology.) |
| References: | Global Cancer Observatory: cancer today. Brain, Central Nervous System. Lyon: WHO/IARC, 2020 Available from: https://gco.iarc.fr/today/data/factsheets/cancers/31-Brain-central-nervous-system-fact-sheet.pdf. Northcott PA, Robinson GW, Kratz CP et al. Medulloblastoma. Nat Rev Dis Primers 2019; 5: 11. Cotter JA, Hawkins C. Medulloblastoma: WHO 2021 and beyond. Pediatr Dev Pathol 2022; 25: 23–33. Orr BA. Pathology, diagnostics, and classification of medulloblastoma. Brain Pathol 2020; 30: 664–678. Louis DN, Perry A, Wesseling P et al. The 2021 WHO classification of tumors of the central nervous system: A summary. Neuro Oncol 2021; 23: 1231–1251. Cavalli FMG, Remke M, Rampasek L et al. Intertumoral heterogeneity within medulloblastoma subgroups. Cancer Cell 2017; 31: 737–754.e6. Sharma T, Schwalbe EC, Williamson D et al. Second‐generation molecular subgrouping of medulloblastoma: An international meta‐analysis of group 3 and group 4 subtypes. Acta Neuropathol 2019; 138: 309–326. Franceschi E, Hofer S, Brandes AA et al. EANO‐EURACAN clinical practice guideline for diagnosis, treatment, and follow‐up of post‐pubertal and adult patients with medulloblastoma. Lancet Oncol 2019; 20: e715–e728. Menyhárt O, Győrffy B. Molecular stratifications, biomarker candidates and new therapeutic options in current medulloblastoma treatment approaches. Cancer Metastasis Rev 2020; 39: 211–233. Doger de Spéville E, Kieffer V, Dufour C et al. Neuropsychological consequences of childhood medulloblastoma and possible interventions: A review. Neurochirurgie 2021; 67: 90–98. Hammoud H, Saker Z, Harati H, Fares Y, Bahmad HF, Nabha S. Drug repurposing in medulloblastoma: Challenges and recommendations. Curr Treat Options Oncol 2020; 22: 6. Richardson S, Hill RM, Kui C et al. Emergence and maintenance of actionable genetic drivers at medulloblastoma relapse. Neuro Oncol 2022; 24: 153–165. Taylor L, Wade PK, Johnson JEC et al. Drug resistance in medulloblastoma is driven by YB‐1, ABCB1 and a seven‐gene drug signature. Cancer 2023; 15: 1086. Kline CN, Joseph NM, Grenert JP et al. Targeted next‐generation sequencing of pediatric neuro‐oncology patients improves diagnosis, identifies pathogenic germline mutations, and directs targeted therapy. Neuro Oncol 2017; 19: 699–709. Lorenz J, Rothhammer‐Hampl T, Zoubaa S et al. A comprehensive DNA panel next generation sequencing approach supporting diagnostics and therapy prediction in neurooncology. Acta Neuropathol Commun 2020; 8: 124. Northcott PA, Buchhalter I, Morrissy AS et al. The whole‐genome landscape of medulloblastoma subtypes. Nature 2017; 547: 311–317. Leal LF, Evangelista AF, de Paula FE et al. Reproducibility of the NanoString 22‐gene molecular subgroup assay for improved prognostic prediction of medulloblastoma. Neuropathology 2018; 38: 475–483. Moreno DA, Bonatelli M, Antoniazzi AP et al. High frequency of WNT‐activated medulloblastomas with CTNNB1 wild type suggests a higher proportion of hereditary cases in a Latin‐Iberian population. Front Oncol 2023; 13: 1237170. da Silva LS, Mançano BM, de Paula FE et al. Expression of GNAS, TP53, and PTEN improves the patient prognostication in sonic hedgehog (SHH) medulloblastoma subgroup. J Mol Diagn 2020; 22: 957–966. Campanella NC, Silva EC, Dix G et al. Mutational profiling of driver tumor suppressor and oncogenic genes in Brazilian malignant pleural mesotheliomas. Pathobiology 2020; 87: 208–216. Horak P, Griffith M, Danos AM et al. Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of clinical genome resource (ClinGen), cancer genomics consortium (CGC), and variant interpretation for cancer consortium (VICC). Genet Med 2022; 24: 986–998. Li MM, Datto M, Duncavage EJ et al. Standards and guidelines for the interpretation and reporting of sequence variants in cancer: A joint consensus recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists. J Mol Diagn 2017; 19: 4–23. Chakravarty D, Gao J, Phillips SM et al. OncoKB: A precision oncology Knowledge Base. JCO Precis Oncol 2017; 2017: 1–16. Jones DT, Jäger N, Kool M et al. Dissecting the genomic complexity underlying medulloblastoma. Nature 2012; 488: 100–105. Morrissy AS, Garzia L, Shih DJ et al. Divergent clonal selection dominates medulloblastoma at recurrence. Nature 2016; 529: 351–357. Pugh TJ, Weeraratne SD, Archer TC et al. Medulloblastoma exome sequencing uncovers subtype‐specific somatic mutations. Nature 2012; 488: 106–110. Robinson G, Parker M, Kranenburg TA et al. Novel mutations target distinct subgroups of medulloblastoma. Nature 2012; 488: 43–48. Wong GC, Li KK, Wang WW et al. Clinical and mutational profiles of adult medulloblastoma groups. Acta Neuropathol Commun 2020; 8: 191. André F, Ciruelos E, Rubovszky G et al. Alpelisib for PIK3CA‐mutated, hormone receptor‐positive advanced breast cancer. N Engl J Med 2019; 380: 1929–1940. VanLandingham NK, Nazarenko A, Grandis JR, Johnson DE. The mutational profiles and corresponding therapeutic implications of PI3K mutations in cancer. Adv Biol Regul 2023; 87: 100934. Niesen J, Ohli J, Sedlacik J et al. Pik3ca mutations significantly enhance the growth of SHH medulloblastoma and lead to metastatic tumour growth in a novel mouse model. Cancer Lett 2020; 477: 10–18. Pietrobono S, Gagliardi S, Stecca B. Non‐canonical hedgehog signaling pathway in cancer: Activation of GLI transcription factors beyond smoothened. Front Genet 2019; 10: 556. Eckerdt F, Clymer J, Bell JB et al. Pharmacological mTOR targeting enhances the antineoplastic effects of selective PI3Kα inhibition in medulloblastoma. Sci Rep 2019; 9: 12822. Slika H, Alimonti P, Raj D et al. The neurodevelopmental and molecular landscape of medulloblastoma subgroups: Current targets and the potential for combined therapies. Cancer 2023; 15: 3889. Kelly CM, Gutierrez Sainz L, Chi P. The management of metastatic GIST: Current standard and investigational therapeutics. J Hematol Oncol 2021; 14: 2. Joensuu H. KIT and PDGFRA variants and the survival of patients with gastrointestinal stromal tumor treated with adjuvant imatinib. Cancer 2023; 15: 3879. Klug LR, Khosroyani HM, Kent JD, Heinrich MC. New treatment strategies for advanced‐stage gastrointestinal stromal tumours. Nat Rev Clin Oncol 2022; 19: 328–341. Gargallo P, Yáñez Y, Segura V et al. Li‐Fraumeni syndrome heterogeneity. Clin Transl Oncol 2020; 22: 978–988. Orr BA, Clay MR, Pinto EM, Kesserwan C. An update on the central nervous system manifestations of Li‐Fraumeni syndrome. Acta Neuropathol 2020; 139: 669–687. Mathias C, Bortoletto S, Centa A et al. Frequency of the TP53 R337H variant in sporadic breast cancer and its impact on genomic instability. Sci Rep 2020; 10: 16614. Volc SM, Ramos CRN, Galvão HCR et al. The Brazilian TP53 mutation (R337H) and sarcomas. PLoS One 2020; 15: e0227260. Barbosa MVR, Cordeiro de Lima VC, Formiga MN, Andrade de Paula CA, Torrezan GT, Carraro DM. High prevalence of EGFR mutations in lung adenocarcinomas from Brazilian patients harboring the TP53 p.R337H variant. Clin Lung Cancer 2020; 21: e37–e44. Pinto EM, Zambetti GP. What 20 years of research has taught us about the TP53 p.R337H mutation. Cancer 2020; 126: 4678–4686. Sandoval RL, Masotti C, de Macedo MP et al. Identification of the TP53 p.R337H variant in tumor genomic profiling should prompt consideration of germline testing for Li‐Fraumeni syndrome. JCO Glob Oncol 2021; 7: 1141–1150. de Almeida MT, Borges KS, de Sousa GR et al. The TP53 p.R337H mutation is uncommon in a Brazilian cohort of pediatric patients diagnosed with ependymoma. Neurol Sci 2020; 41: 691–694. |
| معلومات مُعتمدة: | Conselho Nacional de Desenvolvimento Científico e Tecnológico; Fundação de Amparo à Pesquisa do Estado de São Paulo; Coordenação de Aperfeiçoamento de Pessoal de Nível Superior; Hospital de Câncer de Barretos; Public Ministry of Labor Campinas; Brazilian Ministry of Health (MoH); the National Council for Scientific and Technological Development; 16/2023 Brazilian National Program of Genomics and Precision Health; Coordination for the Improvement of Higher Education Personnel; 2021/13861-0 São Paulo Research Foundation |
| فهرسة مساهمة: | Keywords: medulloblastoma; mutational profile; next‐generation sequencing; precision medicine; somatic variants |
| تواريخ الأحداث: | Date Created: 20240513 Latest Revision: 20240513 |
| رمز التحديث: | 20240513 |
| DOI: | 10.1111/neup.12979 |
| PMID: | 38736183 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1440-1789 |
|---|---|
| DOI: | 10.1111/neup.12979 |