Clinically Advanced Pheochromocytomas and Paragangliomas: A Comprehensive Genomic Profiling Study
Abstract
:Simple Summary
Abstract
1. Introduction
2. Methods
3. Results
4. Discussion
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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1.3 to 2.4 Mutations/Mb | CA-Pheo | CA-Para |
---|---|---|
Number of Cases | 45 | 83 |
Age in years (range) | 53 (7–78) | 48 (10–80) |
Males/Females | 21/24 | 50/33 |
Sample Type Used for Sequencing | Primary Tumor 27% Metastatic Site 73% | Primary tumor 17% Metastatic Site 83% |
GA per tumor | 2.3 | 1.9 |
Predicted Frequency of Germline GA | 31% | 43% |
Most common Untargetable GA | ATRX (24%) TP53 (20%) SDHB (16%) CTNNB1 (7%) VHL (7%) CDKN2A/2B, PIK3R2, NOTCH2 and MEN1 (all 4%) | SDHB (27%) ATRX (21%) TERT (18%) TP53 (7%) SDHA (7%) |
Most common Targetable GA | RET (9%) NF1 (11%) FGFR1 (7%) | FGFR1 (7%) NF1 (2%) PTEN (2%) NF2 (2%) CDK4 (2%) |
CD274 amplification | 0% | 0% |
PBRM1 GA | 2% | 1% |
MSI | 0% | 0% |
Median TMB mut/Mb | 1.7 | 1.2 |
TMB ≥ 10/20 mut/Mb | 2%/0% | 6%/2% |
PD-L1 Expression low/high | 0%/0% | 14%/0% |
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Bratslavsky, G.; Sokol, E.S.; Daneshvar, M.; Necchi, A.; Shapiro, O.; Jacob, J.; Liu, N.; Sanford, T.S.; Pinkhasov, R.; Goldberg, H.; et al. Clinically Advanced Pheochromocytomas and Paragangliomas: A Comprehensive Genomic Profiling Study. Cancers 2021, 13, 3312. https://doi.org/10.3390/cancers13133312
Bratslavsky G, Sokol ES, Daneshvar M, Necchi A, Shapiro O, Jacob J, Liu N, Sanford TS, Pinkhasov R, Goldberg H, et al. Clinically Advanced Pheochromocytomas and Paragangliomas: A Comprehensive Genomic Profiling Study. Cancers. 2021; 13(13):3312. https://doi.org/10.3390/cancers13133312
Chicago/Turabian StyleBratslavsky, Gennady, Ethan S. Sokol, Michael Daneshvar, Andrea Necchi, Oleg Shapiro, Joseph Jacob, Nick Liu, Tom S. Sanford, Ruben Pinkhasov, Hanan Goldberg, and et al. 2021. "Clinically Advanced Pheochromocytomas and Paragangliomas: A Comprehensive Genomic Profiling Study" Cancers 13, no. 13: 3312. https://doi.org/10.3390/cancers13133312