She had started a standard anti-cancer therapy available in the local hospital, but she didn’t stop digging deeper into the aspects of modern oncology. She wanted to know what the origin of her cancer was, its genesis. And obviously: are there any other therapeutic possibilities? She had been speaking with the best oncologists in the country, made miscellaneous additional tests and analyses, and spent hours reading medical books or scrolling the Internet. At some point, she heard about the MNM Diagnostics and ordered a full cancer genome profile.
After a few weeks needed for whole-sgenome sequencing of the tumour and blood samples, she received a full medical report describing her cancer’s genomic landscape in a great detail.
MNM Diagnostics Onco Team analysed all the data obtained from the sequencing and found the genetic changes responsible for development of her disease. The tumour genome uncovered a large number of rearrangements, and indicated almost tetraploidy of the chromosomes. By analyzing the regions particularly heavily amplified, the team found a region containing CCND1 gene. Amplification of this gene is known to drive development of the cancer. Finding a pathogenic variant in sequenced data, it looked clear what was the driving force behind Anna’s cancer – amplification of the CCND1 gene. Additionally, an important mutation in the TP53 gene was found. These two changes probably drove her cells into uncontrollable multiplication, leading to cancerogenesis and the formation of the tumour. Further analyses revealed that due to the low Total Mutation Burden (TMB~2/Mbp) and no microsatellite instability (MSI), there was no clear indication for the PD-1/PD-L1 immunotherapy – a feasible therapeutic option. Another analysis, checking the homologous recombination deficiency (HRD) score, revealed that this DNA repair system is functioning well, which means that another promising drug – PARP inhibitor won’t work efficiently.
At the very first moment, getting her results from the physician, Anna was a bit terrified to learn that some therapeutic options are not suitable for her. Who wouldn’t be? But then she realized that this knowledge is incredibly important: cancer therapy is also about the timing. Those genomic findings will allow her to prevent probably ineffective therapies, with potentially many side effects. She won’t waste her time, precious time. Moreover, at the end of the report, she found a section with possible therapies, carefully selected and recommended in her case, including some clinical trials on the CCND1 inhibitor, which might be an efficient drug precisely targeting the mutation of her tumour. Now, she can look into the future with optimism, knowing about her future therapeutic options, as well as how much potentially aimless suffering she had circumvented and how much time she had gained.