Whole Chromosome 7 Gain Predicts Higher Risk of Recurrence in Pediatric Pilocytic Astrocytomas Independently From KIAA1549-BRAF Fusion Status

Roth, Jeffrey; Fierst, Tamara; Waanders, Angela J.; Li, Yimei; Biegel, Jaclyn A.; Santi, Mariarita

doi:10.1093/jnen/nlw001

Cited by 23 publications

(17 citation statements)

References 41 publications

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“…Regardless of whether it is a complete or partial loss of chromosome 10, patients had significantly shorter survival compared to those with no chromosome 10 abnormalities [ 109 ]. Moreover, gain of whole chromosome 7 was associated with a 4.7-fold greater risk of tumor recurrence, even after correcting for surgical status and other genetic changes [ 110 ].…”

Section: Chromosome 7 Gain and Chromosome 10 Lossmentioning

confidence: 99%

Prognostic and Predictive Biomarkers in Gliomas

Śledzińska

Bebyn

Furtak³

et al. 2021

IJMS

156

142

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Gliomas are the most common central nervous system tumors. New technologies, including genetic research and advanced statistical methods, revolutionize the therapeutic approach to the patient and reveal new points of treatment options. Moreover, the 2021 World Health Organization Classification of Tumors of the Central Nervous System has fundamentally changed the classification of gliomas and incorporated many molecular biomarkers. Given the rapid progress in neuro-oncology, here we compile the latest research on prognostic and predictive biomarkers in gliomas. In adult patients, IDH mutations are positive prognostic markers and have the greatest prognostic significance. However, CDKN2A deletion, in IDH-mutant astrocytomas, is a marker of the highest malignancy grade. Moreover, the presence of TERT promoter mutations, EGFR alterations, or a combination of chromosome 7 gain and 10 loss upgrade IDH-wildtype astrocytoma to glioblastoma. In pediatric patients, H3F3A alterations are the most important markers which predict the worse outcome. MGMT promoter methylation has the greatest clinical significance in predicting responses to temozolomide (TMZ). Conversely, mismatch repair defects cause hypermutation phenotype predicting poor response to TMZ. Finally, we discussed liquid biopsies, which are promising diagnostic, prognostic, and predictive techniques, but further work is needed to implement these novel technologies in clinical practice.

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Section: Chromosome 7 Gain and Chromosome 10 Lossmentioning

confidence: 99%

Prognostic and Predictive Biomarkers in Gliomas

Śledzińska

Bebyn

Furtak³

et al. 2021

IJMS

156

142

View full text Add to dashboard Cite

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“…Furthermore, a BRAF-TIAA1549 fusion was discovered in pilocytic astrocytoma (more than 70%) ( Fig. 2 ) [ 39 - 43 ]. SMARCB1 (INI1) or SMARCA4 (BRG1) gene mutations or deletions were observed in atypical teratoid/rhabdoid tumors (AT/RT) [ 44 - 46 ], and a NAB2-STAT6 fusion was present in solitary fibrous tumor/hemangiopericytomas [ 47 - 49 ].…”

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confidence: 99%

Molecular Testing of Brain Tumor

Park

Won

Kim

et al. 2017

J Pathol Transl Med

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The World Health Organization (WHO) classification of central nervous system (CNS) tumors was revised in 2016 with a basis on the integrated diagnosis of molecular genetics. We herein provide the guidelines for using molecular genetic tests in routine pathological practice for an accurate diagnosis and appropriate management. While astrocytomas and IDH-mutant (secondary) glioblastomas are characterized by the mutational status of IDH, TP53, and ATRX, oligodendrogliomas have a 1p/19q codeletion and mutations in IDH, CIC, FUBP1, and the promoter region of telomerase reverse transcriptase (TERTp). IDH-wildtype (primary) glioblastomas typically lack mutations in IDH, but are characterized by copy number variations of EGFR, PTEN, CDKN2A/B, PDGFRA, and NF1 as well as mutations of TERTp. High-grade pediatric gliomas differ from those of adult gliomas, consisting of mutations in H3F3A, ATRX, and DAXX, but not in IDH genes. In contrast, well-circumscribed low-grade neuroepithelial tumors in children, such as pilocytic astrocytoma, pleomorphic xanthoastrocytoma, and ganglioglioma, often have mutations or activating rearrangements in the BRAF, FGFR1, and MYB genes. Other CNS tumors, such as ependymomas, neuronal and glioneuronal tumors, embryonal tumors, meningothelial, and other mesenchymal tumors have important genetic alterations, many of which are diagnostic, prognostic, and predictive markers and therapeutic targets. Therefore, the neuropathological evaluation of brain tumors is increasingly dependent on molecular genetic tests for proper classification, prediction of biological behavior and patient management. Identifying these gene abnormalities requires cost-effective and high-throughput testing, such as next-generation sequencing. Overall, this paper reviews the global guidelines and diagnostic algorithms for molecular genetic testing of brain tumors.

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“…We found 10 studies that demonstrated detection methods for KIAA1549-BRAF fusion (10,(14)(15)(16)(17)(18)(19)(20)(21)(22). Five of these studies identified the fusion gene variant using direct sequencing, and three studies used only FISH.…”

Section: Discussionmentioning

confidence: 99%