In recent years, genetic testing technology has gradually played an increasingly important role in the medical field due to its advantages such as predicting disease risks and guiding medication. Especially for tumor treatment, gene detection results can more accurately select the most suitable drug for patients, which not only reduces unnecessary medical expenses, but also improves the efficacy of drug treatment. Therefore, more and more patients will choose genetic testing under the recommendation of their doctors. However, not all tests can achieve the expected results, and some expensive testing items are even completely unnecessary.
For this reason, cancer degree pays special attention to some cases of gene sequencing results guiding subsequent treatment, and share it with everyone. I hope you can refer to it when choosing whether you need to perform genetic testing or what kind of testing product you should choose.
The following is a treatment case for prostate cancer. When the patient failed drug treatment, surgical treatment and radiotherapy, the patient found a pathogenic mutation of the gene repair defect through FoundationOne CDx gene detection, including the BRCA2 gene mutation, and the condition was effectively controlled by using olaparib.
Prostate cancer treatment was not smooth, and repeated relapses
A 59-year-old man visited the hospital for frequent urination of Hydrogen tumor marker PSA level reached 105ng/ml, and prostate puncture examination showed prostate cancer. MRI examination shows that the tumor has invaded the rectum and has metastasis of pelvic lymph nodes. CT and bone scans did not find any other organs or bone metastasis . The patient had no family history and the tumor was clinically diagnosed as stage 4.
patients received androgen deprivation therapy, and the PSA was reduced to 0.162ng/ml, and later gradually rose to 0.632ng/ml, but MMI showed that the lesions had progressed locally. The patients received docetaxel and cabatasaccharide in turn. After tumor progression and severe edema, the patient started to use enzalutamide, but the PSA suddenly increased to 4.19 ng/ml, and nuclear magnetic imaging showed that the tumor had infiltrated into the rectum.
Since there was no distant organ metastasis, the patient underwent total pelvic resection. After the operation, the PSA level dropped to 0.113 ng/ml, but it began to rise immediately. Follow-up CT showed local recurrence and liver metastasis, so stereotactic radiation therapy was performed. However, the treatment did not achieve results, and the examination showed pelvic lymph nodes and liver metastasis.
precisely used medication through genetic testing results
patients used radiotherapy every time they relapsed. Radiotherapy does reduce metastasis, but only one and a half months after the last treatment, new lymph node metastasis appeared. The doctor extracted tumor tissue samples from patients and used FoundationOne CDX detection technology for second-generation gene sequencing.
As shown in the figure below, the gene detection results show that there are AR gene amplification, ATR shear mutation, MYC gene amplification, RAD21 gene amplification, SPEN nonsense mutation, and frameshift mutation of BRCA2 gene. Among them, SPEN and BRCA2 are mutations with clinical therapeutic guidance. Gene mutations affect gene mismatch repair and can be treated with the targeted drug olaparib.
Figure 1. This case detected a clinically significant genetic variant in
patients with olaparib very well. The tumor marker PSA quickly decreased to a detectable level, and the metastatic lymph node subsided.
Figure 2. Imaging results before and after treatment
The metastases did not continue to grow after 12 months of olaparib, and the tumor marker PSA was always maintained at 0.06ng/ml. This is a good result for patients who have experienced continuous recurrence and are suffering from illness.
Figure 3. The change level of tumor marker PSA during the entire treatment period
can help you better choose
There are several explanations about the above case:
- FoundationOne detection is relatively expensive in China, and prostate cancer patients are not required to choose.Similar products that detect homologous recombination repair defects, the domestic price of BGI is much lower than FoundationOne. You can learn more and compare more before making a decision.
- try to choose professional and large-scale genetic testing companies for testing. Because some small companies are driven by interests and give most of the profits to hospitals and doctors in order to win performance, they have no fees to conduct testing, so they can only forge genetic testing reports. If the patient guides later treatment according to the false report results, the consequences will be unimaginable.
There is a prospective clinical trial based on second-generation gene sequencing in Japan. 59.4% of patients found gene mutations, but only 13.4% of patients received corresponding targeted drug treatment. In the SHIVA clinical trial, the recommendation of genetic test results to patients with hyperindicated targeted drugs (that is, the targeted drugs have not been approved for use in this tumor). However, compared with traditional chemotherapy, these hyperindicated targeted drugs have not improved the progression-free survival of patients. There is no doubt about the advantages of
gene sequencing technology. I hope this industry will become more and more standardized. The continuous development of this technology will definitely have a profound impact on tumor treatment.
Regarding the application cases of second-generation gene sequencing technology in other fields, the cancer degree will be reported to you in a timely manner.
cancer degree, accompany you through every step of fighting cancer!
References: Yukiyoshi Hirayama, et al., Successful case of olaparib treatment for castration-resistant prostate cancer with multiple DNA repair gene mutations: Use of comprehensive genome profiling for treatment-refractory cases. Urol Case Rep. 2022 Aug 30.
