References
1. Johnson A, Severson E, Gay L, et al. Comprehensive Genomic Profiling
of 282 Pediatric Low- and High-Grade Gliomas Reveals Genomic Drivers,
Tumor Mutational Burden, and Hypermutation Signatures. Oncologist
2017;22(12):1478-1490. (In eng). DOI: 10.1634/theoncologist.2017-0242.
2. Kumar R, Liu APY, Orr BA, Northcott PA, Robinson GW. Advances in the
classification of pediatric brain tumors through DNA methylation
profiling: From research tool to frontline diagnostic. Cancer
2018;124(21):4168-4180. (In eng). DOI: 10.1002/cncr.31583.
3. Yarchoan M, Hopkins A, Jaffee EM. Tumor Mutational Burden and
Response Rate to PD-1 Inhibition. N Engl J Med 2017;377(25):2500-2501.
(In eng). DOI: 10.1056/NEJMc1713444.
4. Roy DM, Walsh LA, Chan TA. Driver mutations of cancer epigenomes.
Protein & Cell 2014;5(4):265-296. DOI: 10.1007/s13238-014-0031-6.
5. Shao C, Li G, Huang L, et al. Prevalence of High Tumor Mutational
Burden and Association With Survival in Patients With Less Common Solid
Tumors. JAMA Network Open 2020;3(10):e2025109-e2025109. DOI:
10.1001/jamanetworkopen.2020.25109.
6. Wang L, Ge J, Lan Y, et al. Tumor mutational burden is associated
with poor outcomes in diffuse glioma. BMC Cancer 2020;20(1):213. (In
eng). DOI: 10.1186/s12885-020-6658-1.
7. Goodman AM, Kato S, Bazhenova L, et al. Tumor Mutational Burden as an
Independent Predictor of Response to Immunotherapy in Diverse Cancers.
Mol Cancer Ther 2017;16(11):2598-2608. (In eng). DOI:
10.1158/1535-7163.Mct-17-0386.
8. Stenzinger A, Allen JD, Maas J, et al. Tumor mutational burden
standardization initiatives: Recommendations for consistent tumor
mutational burden assessment in clinical samples to guide immunotherapy
treatment decisions. Genes Chromosomes Cancer 2019;58(8):578-588. (In
eng). DOI: 10.1002/gcc.22733.
9. Patel RR, Ramkissoon SH, Ross J, Weintraub L. Tumor mutational burden
and driver mutations: Characterizing the genomic landscape of pediatric
brain tumors. Pediatr Blood Cancer 2020;67(7):e28338. (In eng). DOI:
10.1002/pbc.28338.
10. Cancer gene census. May 2021 ed: Catalogue of Somatic Mutations in
Cancer; 2021.
11. Khagi Y, Goodman AM, Daniels GA, et al. Hypermutated Circulating
Tumor DNA: Correlation with Response to Checkpoint Inhibitor-Based
Immunotherapy. Clin Cancer Res 2017;23(19):5729-5736. (In eng). DOI:
10.1158/1078-0432.Ccr-17-1439.
12. Kaufmann WK, Paules RS. DNA damage and cell cycle checkpoints. Faseb
j 1996;10(2):238-47. (In eng). DOI: 10.1096/fasebj.10.2.8641557.
13. Dai Y, Sun C, Feng Y, Jia Q, Zhu B. Potent immunogenicity in
BRCA1-mutated patients with high-grade serous ovarian carcinoma. J Cell
Mol Med 2018;22(8):3979-3986. (In eng). DOI: 10.1111/jcmm.13678.
14. Birkbak NJ, Kochupurakkal B, Izarzugaza JMG, et al. Tumor Mutation
Burden Forecasts Outcome in Ovarian Cancer with BRCA1 or BRCA2
Mutations. PLOS ONE 2013;8(11):e80023. DOI:
10.1371/journal.pone.0080023.
15. Willis C, Fiander M, Tran D, et al. Tumor mutational burden in lung
cancer: a systematic literature review. Oncotarget
2019;10(61):6604-6622. (In eng). DOI: 10.18632/oncotarget.27287.
16. Rivlin N, Brosh R, Oren M, Rotter V. Mutations in the p53 Tumor
Suppressor Gene: Important Milestones at the Various Steps of
Tumorigenesis. Genes Cancer 2011;2(4):466-74. (In eng). DOI:
10.1177/1947601911408889.
17. Wu S, Wang L, Li W, et al. Comparison between the first-line and
second-line immunotherapy drugs in the progression-free survival and
overall survival in advanced non-small cell lung cancer: a systematic
review and meta-analysis of randomized controlled trials. Ann Palliat
Med 2021;10(2):1717-1726. (In eng). DOI: 10.21037/apm-20-449.
18. Rizvi NA, Hellmann MD, Snyder A, et al. Cancer immunology.
Mutational landscape determines sensitivity to PD-1 blockade in
non-small cell lung cancer. Science 2015;348(6230):124-8. (In eng). DOI:
10.1126/science.aaa1348.
19. Snyder A, Makarov V, Merghoub T, et al. Genetic basis for clinical
response to CTLA-4 blockade in melanoma. N Engl J Med
2014;371(23):2189-2199. (In eng). DOI: 10.1056/NEJMoa1406498.
20. Zheng M. Tumor mutation burden for predicting immune checkpoint
blockade response: the more, the better. Journal for ImmunoTherapy of
Cancer 2022;10(1):e003087. DOI: 10.1136/jitc-2021-003087.
21. Sha D, Jin Z, Budczies J, Kluck K, Stenzinger A, Sinicrope FA. Tumor
Mutational Burden as a Predictive Biomarker in Solid Tumors. Cancer
Discovery 2020;10(12):1808-1825. DOI: 10.1158/2159-8290.Cd-20-0522.
22. Hellmann MD, Ciuleanu TE, Pluzanski A, et al. Nivolumab plus
Ipilimumab in Lung Cancer with a High Tumor Mutational Burden. N Engl J
Med 2018;378(22):2093-2104. (In eng). DOI: 10.1056/NEJMoa1801946.
23. Valero C, Lee M, Hoen D, et al. The association between tumor
mutational burden and prognosis is dependent on treatment context.
Nature Genetics 2021;53(1):11-15. DOI: 10.1038/s41588-020-00752-4.
24. Ota N, Yoshimoto Y, Darwis NDM, et al. High tumor mutational burden
predicts worse prognosis for cervical cancer treated with radiotherapy.
Japanese Journal of Radiology 2022;40(5):534-541. DOI:
10.1007/s11604-021-01230-5.
25. Long AH, Morgenstern DA, Leruste A, Bourdeaut F, Davis KL.
Checkpoint Immunotherapy in Pediatrics: Here, Gone, and Back Again.
American Society of Clinical Oncology Educational Book 2022(42):1-14.
DOI: 10.1200/edbk_349799.
26. Melcher V, Kerl K. The Growing Relevance of Immunoregulation in
Pediatric Brain Tumors. Cancers (Basel) 2021;13(22) (In eng). DOI:
10.3390/cancers13225601.
27. A Study of Bempegaldesleukin (BEMPEG: NKTR-214) in Combination With
Nivolumab in Children, Adolescents and Young Adults With Recurrent or
Treatment-resistant Cancer. ClinicalTrials.gov.
28. INFORM2 Study Uses Nivolumab and Entinostat in Children and
Adolescents With High-risk Refractory Malignancies. Clinical Trial.
29. Testing the Combination of Two Immunotherapy Drugs (Nivolumab and
Ipilimumab) in Children, Adolescent, and Young Adult Patients With
Relapsed/Refractory Cancers That Have an Increased Number of Genetic
Changes, The 3CI Study. Clinical Trial.
30. H3.3K27M Peptide Vaccine With Nivolumab for Children With Newly
Diagnosed DIPG and Other Gliomas. Clinical Trial.
31. A Study to Evaluate the Safety and Efficacy of Nivolumab Monotherapy
and Nivolumab in Combination With Ipilimumab in Pediatric Participants
With High Grade Primary Central Nervous System (CNS) Malignancies.
Clinical Trial.
32. Marcus L, Fashoyin-Aje LA, Donoghue M, et al. FDA Approval Summary:
Pembrolizumab for the Treatment of Tumor Mutational Burden-High Solid
Tumors. Clin Cancer Res 2021;27(17):4685-4689. (In eng). DOI:
10.1158/1078-0432.Ccr-21-0327.
33. Mackay A, Burford A, Molinari V, et al. Molecular, Pathological,
Radiological, and Immune Profiling of Non-brainstem Pediatric High-Grade
Glioma from the HERBY Phase II Randomized Trial. Cancer Cell
2018;33(5):829-842.e5. (In eng). DOI: 10.1016/j.ccell.2018.04.004.
34. McGrail DJ, Pilié PG, Rashid NU, et al. High tumor mutation burden
fails to predict immune checkpoint blockade response across all cancer
types. Ann Oncol 2021;32(5):661-672. (In eng). DOI:
10.1016/j.annonc.2021.02.006.
35. Capper D, Engel NW, Stichel D, et al. DNA methylation-based
reclassification of olfactory neuroblastoma. Acta Neuropathol
2018;136(2):255-271. (In eng). DOI: 10.1007/s00401-018-1854-7.
36. Ferreyra Vega S, Olsson Bontell T, Corell A, Smits A, Jakola AS,
Carén H. DNA methylation profiling for molecular classification of adult
diffuse lower-grade gliomas. Clinical Epigenetics 2021;13(1):102. DOI:
10.1186/s13148-021-01085-7.