Report of Canonical <i>BCR</i>-<i>ABL1</i> Fusion in Glioblastoma

Pang, Ying; Yu, Guangyang; Butler, Madison; Sindiri, Sivasish; Song, Young K.; Wei, Jun S.; Wen, Xinyu; Chou, Hsien-Chao; Quezado, Martha; Pack, Svetlana D.; Xi, Liqiang; Abdullaev, Zied; Kim, Olga; Ranjan, Alice; Merchant, Mythili; Antony, Ramya; Labar, Boris; Aboud, Orwa; Kamson, David Olayinka; Kaplan, Rosandra N.; Mackey, Megan A.; Camphausen, Kevin; Zaghloul, Kareem A.; Armstrong, Terri S.; Gilbert, Mark R.; Aldape, Kenneth; Holdhoff, Matthias; Khan, Javed; Wu, Jing

doi:10.1200/po.20.00519

Cited by 3 publications

(1 citation statement)

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“…This suggests that recurrent HMP gliomas harbor mutations that persist, indicating the existence of a resistant clone. Patient CL0238, previously reported by our group to harbor a pathogenic fusion gene BCR-ABL [ 14 ], was diagnosed with a NHMP glioma that also had a high percentage of shared mutations, indicating that the fusion event of BCR-ABL occurred early and that it is an oncogenic driver leading to rapid progression of disease without significant clonal divergence.…”

Section: Resultsmentioning

confidence: 99%

Tumor Mutation Burden, Expressed Neoantigens and the Immune Microenvironment in Diffuse Gliomas

Pang

Merchant

et al. 2021

Cancers

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Background: A consistent correlation between tumor mutation burden (TMB) and tumor immune microenvironment has not been observed in gliomas as in other cancers. Methods: Driver germline and somatic mutations, TMB, neoantigen, and immune cell signatures were analyzed using whole exome sequencing (WES) and transcriptome sequencing of tumor and WES of matched germline DNA in a cohort of 66 glioma samples (44 IDH-mutant and 22 IDH-wildtype). Results: Fourteen samples revealed a hypermutator phenotype (HMP). Eight pathogenic (P) or likely pathogenic (LP) germline variants were detected in 9 (19%) patients. Six of these 8 genes were DNA damage repair genes. P/LP germline variants were found in 22% of IDH-mutant gliomas and 12.5% of IDH-wildtype gliomas (p = 0.7). TMB was correlated with expressed neoantigen but showed an inverse correlation with immune score (R = −0.46, p = 0.03) in IDH-wildtype tumors and no correlation in IDH-mutant tumors. The Antigen Processing and Presentation (APP) score correlated with immune score and was surprisingly higher in NHMP versus HMP samples in IDH-wildtype gliomas, but higher in HMP versus NHMP in IDH-mutant gliomas. Conclusion: TMB was inversely correlated with immune score in IDH-wildtype gliomas and showed no correlation in IDH-mutant tumors. APP was correlated with immune score and may be further investigated as a biomarker for response to immunotherapy in gliomas. Studies of germline variants in a larger glioma cohort are warranted.

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Section: Resultsmentioning

confidence: 99%