Transient Response of Olaparib on Pulmonary Artery Sarcoma Harboring Multiple Homologous Recombinant Repair Gene Alterations
Abstract
:1. Introduction
2. Case Report
3. Treatment Course
4. Discussion
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Gene | Chr | Exon | Accession Number | cDNA Change | Amino Acid Change | Coverage | Allele Frequency | COSMIC ID |
---|---|---|---|---|---|---|---|---|
ADAMTS9 | 3 | 1 | NM_182920 | c.107C > T | P36L | 1147 | 12.7% | - |
ATRX | X | 9 | NM_000489 | c.1331G > A | R444Q | 1626 | 17.7% | COSM3424965 |
BRCA1 | 17 | 10 | NM_007294 | c.2347A > G | I783V | 1301 | 50.1% | - |
ERBB2 | 17 | 27 | NM_004448 | c.3763G > T | V1255L | 600 | 47.0% | COSM7313442 |
FLT3 | 13 | 7 | NM_004119 | c.866A > C | N289T | 1966 | 47.2% | - |
KDR | 4 | 8 | NM_002253 | c.983C > A | P328H | 369 | 39.6% | COSM3825987 |
MUC16 | 19 | 3 | NM_024690 | c.18096C > G | H6032Q | 1438 | 63.4% | - |
NOTCH4 | 6 | 3 | NM_004557 | c.316C > A | L106I | 1645 | 49.2% | - |
NSD1 | 5 | 4 | NM_022455 | c.1070A > G | N357S | 1198 | 47.5% | - |
POLD1 | 19 | 10 | NM_001256849 | c.1232A > C | Q411P | 726 | 48.5% | - |
RECQL4 | 8 | - | NM_004260 | c.1391-4G > T | Splice region | 1495 | 35.6% | - |
USH2A | 1 | 66 | NM_206933 | c.14404T > C | S4802P | 1979 | 54.5% | - |
Pathway Involved | Gene | Copy Number | Alteration |
---|---|---|---|
MDM2-P53 pathway | MDM2 | 39 | Amplification |
ARF-MDM2-P53 pathway; Rb-E2F-1 pathway; P16/Rb pathway | CDKN2A | 0 | Homozygous Deletion |
Homologous Recombination | RAD50, BRCA2, BLM, CHEK1, MRE11 | 1 | Hemizygous Deletion |
Nonhomologous End-joining | RB1 | 1 | Hemizygous Deletion |
PTEN-PI3K-AKT pathway | PTEN | 1 | Hemizygous Deletion |
Type I noncanonical Hh pathway | PTCH1 | 1 | Hemizygous Deletion |
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Wu, C.-E.; Ng, C.T.; Tan, K.T. Transient Response of Olaparib on Pulmonary Artery Sarcoma Harboring Multiple Homologous Recombinant Repair Gene Alterations. J. Pers. Med. 2021, 11, 357. https://doi.org/10.3390/jpm11050357
Wu C-E, Ng CT, Tan KT. Transient Response of Olaparib on Pulmonary Artery Sarcoma Harboring Multiple Homologous Recombinant Repair Gene Alterations. Journal of Personalized Medicine. 2021; 11(5):357. https://doi.org/10.3390/jpm11050357
Chicago/Turabian StyleWu, Chiao-En, Ca Tung Ng, and Kien Thiam Tan. 2021. "Transient Response of Olaparib on Pulmonary Artery Sarcoma Harboring Multiple Homologous Recombinant Repair Gene Alterations" Journal of Personalized Medicine 11, no. 5: 357. https://doi.org/10.3390/jpm11050357