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The root cause of tumors is gene mutation.
The purpose of genetic testing of tumors is to understand which gene mutation exists in patients, and to provide guidance for later drug selection and treatment
.
Patients and their families have many questions about this technology, such as: Which sample is more accurate to use? And what kind of genetic testing package to choose? In the following, we will talk to you about the relevant knowledge of genetic testing through a recently released literature report
.
The types of samples for genetic testing With the maturity of genetic testing technology, when a patient is unfortunately diagnosed with a malignant tumor, the doctor will recommend related genetic testing, especially for malignant tumors such as non-small cell lung cancer and intestinal cancer.
Targeted targeted drugs
.
So how to choose the samples for inspection? Samples generally used for genetic testing include tumor tissue, blood samples or pleural effusion
.
Tumor tissue samples: Need to be obtained by needle biopsy, or use tumor samples removed after surgery
.
Among them, the puncture will bring certain risks to the patient; if the drug is resistant after a period of treatment, it is often necessary to re-puncture for examination
.
The advantage is that as long as there are enough cancer cells in the tissue to be tested, relatively accurate results can often be detected
.
The disadvantage is that patients suffer; in addition, due to the high heterogeneity of tumors, the gene mutation profiles of different parts may be different, and there may be certain errors in the use of genetic test results to guide subsequent treatment
.
Blood sample: The advantage is that the results can be obtained by drawing blood, the operation is simple, and the gene mutation of multiple tumor lesions in the body can be detected and analyzed
.
The disadvantage is that if there are few gene fragments of tumor cells in the blood that happens to be drawn, they often cannot be detected, which will also cause errors in the results
.
Figure 1.
Blood genetic testing can solve the problem of tumor heterogeneity.
Each test sample has its own advantages and disadvantages.
Patients should choose a more suitable method according to the doctor's suggestion and their own situation
.
Let's look at the following cases, blood genetic testing gives a good idea for treatment
.
Liquid biopsy provides treatment ideas and avoids the corresponding risks.
In 2005, a 48-year-old man was diagnosed with stage IIA prostate cancer, and the prostate cancer antigen PSA level reached 10.
3ng/mL
.
The patient had undergone a transurethral resection of the prostate at the time, and a bone scan revealed no metastases
.
He also underwent radical retropubic prostatectomy and pelvic lymph node dissection
.
Surgical margins were negative at that time, and there was no perineural or focal capsular infiltration
.
The patient had a genetic family history of prostate cancer, both his father and grandfather had prostate cancer, his grandmother had a history of leukemia, and his mother had a history of breast cancer
.
In August 2015, the patient's disease relapsed, but the PSA level was within the normal range
.
Computed tomography and bone scans of the abdomen and pelvis revealed no metastases
.
The patient received salvage intensity-modulated radiotherapy for prostate cancer
.
Repeat imaging revealed an irregular soft-tissue mass at the original surgical suture site, and the patient was started on androgen deprivation therapy (ADT), but PET-CT revealed that the tumor appeared to have metastasized
.
Fortunately, castration therapy works well
.
Figure 2.
Eight months after genetically detecting tumor-related genetic variants in blood samples, patients' PSA levels began to rise
.
A second bone scan revealed suspected metastases in multiple locations
.
The patient was started on abiraterone 1000 mg daily and prednisone 5 mg on top of previous treatment
.
The patient was also tested using FoundationOne Liquid, which unexpectedly discovered the V600E mutation in the BRAF gene and the CHEK2 gene mutation
.
Since CHEK2 mutations can be considered PARP inhibitors, it seems that the treatment has an idea
.
The patient was referred to the haematology unit for evaluation of thrombocytopenia before the treatment regimen was changed
.
In October 2020, the patient underwent bone marrow biopsy and was determined to be HCL (high leukocyte acute leukemia)
.
In this complex situation, a multidisciplinary tumor committee evaluated and decided to prioritize the treatment of progressive prostate cancer with close monitoring in the absence of aggressive treatment for HCL
.
Figure 3.
A patient with secondary leukemia confirmed by bone marrow aspiration and immunohistochemical analysis continued on abiraterone and prednisone and was transferred back to the radiotherapy department for stereotactic radiation therapy
.
The prostate cancer antigen PSA decreased after 5 cycles of radiation therapy to the right pelvic lymph nodes
.
Because the patient had a genetic family history of prostate cancer, the researchers reassessed the CHEK2 gene mutation
.
Since the CHEK2 gene is involved in gene repair, olaparib can be considered for this gene mutation, and doctors are also ready to try it on patients
.
But olaparib has been shown to increase the risk of developing late-onset myelodysplastic syndrome and acute myeloid leukemia
.
Considering that the patient had been diagnosed with high white blood cell acute leukemia, the doctor finally did not give the patient olaparib, but adopted other treatment measures
.
Revelation This document does not explain how the patient will be treated for hyperleukemia in the follow-up, and whether there is a cross-indication drug for the BRAF gene V600E mutation is not explained
.
The patient in the case did not detect a gene mutation and the tumor disappeared after taking targeted drugs, but during the treatment process, he repeatedly weighed various drugs and treatment decisions, and suffered repeated defeats
.
Among them, genetic testing of blood samples has brought some new treatment ideas to patients.
From this aspect, genetic testing still has certain value and significance
.
At present, the genetic testing market is mixed.
Although some expensive testing packages can detect hundreds or thousands of genes, most of the gene mutations are meaningless to the treatment of patients
.
Before patients and their families choose to undergo genetic testing, they must learn as much as possible about this knowledge and information, and spend their money wisely
.
For more genetic testing expertise, welcome to download the Cancer Degree APP to learn more
.
Reference: Gregory Hemenway, et al.
, Clinical Utility of Liquid Biopsy to Identify Genomic Heterogeneity and Secondary Cancer Diagnoses: A Case Report, Case Rep Oncol 2022;15:78–85.
Click below to learn more about clinical trial projects against cancer Dry goods review<< Swipe left and right to see more>>
The purpose of genetic testing of tumors is to understand which gene mutation exists in patients, and to provide guidance for later drug selection and treatment
.
Patients and their families have many questions about this technology, such as: Which sample is more accurate to use? And what kind of genetic testing package to choose? In the following, we will talk to you about the relevant knowledge of genetic testing through a recently released literature report
.
The types of samples for genetic testing With the maturity of genetic testing technology, when a patient is unfortunately diagnosed with a malignant tumor, the doctor will recommend related genetic testing, especially for malignant tumors such as non-small cell lung cancer and intestinal cancer.
Targeted targeted drugs
.
So how to choose the samples for inspection? Samples generally used for genetic testing include tumor tissue, blood samples or pleural effusion
.
Tumor tissue samples: Need to be obtained by needle biopsy, or use tumor samples removed after surgery
.
Among them, the puncture will bring certain risks to the patient; if the drug is resistant after a period of treatment, it is often necessary to re-puncture for examination
.
The advantage is that as long as there are enough cancer cells in the tissue to be tested, relatively accurate results can often be detected
.
The disadvantage is that patients suffer; in addition, due to the high heterogeneity of tumors, the gene mutation profiles of different parts may be different, and there may be certain errors in the use of genetic test results to guide subsequent treatment
.
Blood sample: The advantage is that the results can be obtained by drawing blood, the operation is simple, and the gene mutation of multiple tumor lesions in the body can be detected and analyzed
.
The disadvantage is that if there are few gene fragments of tumor cells in the blood that happens to be drawn, they often cannot be detected, which will also cause errors in the results
.
Figure 1.
Blood genetic testing can solve the problem of tumor heterogeneity.
Each test sample has its own advantages and disadvantages.
Patients should choose a more suitable method according to the doctor's suggestion and their own situation
.
Let's look at the following cases, blood genetic testing gives a good idea for treatment
.
Liquid biopsy provides treatment ideas and avoids the corresponding risks.
In 2005, a 48-year-old man was diagnosed with stage IIA prostate cancer, and the prostate cancer antigen PSA level reached 10.
3ng/mL
.
The patient had undergone a transurethral resection of the prostate at the time, and a bone scan revealed no metastases
.
He also underwent radical retropubic prostatectomy and pelvic lymph node dissection
.
Surgical margins were negative at that time, and there was no perineural or focal capsular infiltration
.
The patient had a genetic family history of prostate cancer, both his father and grandfather had prostate cancer, his grandmother had a history of leukemia, and his mother had a history of breast cancer
.
In August 2015, the patient's disease relapsed, but the PSA level was within the normal range
.
Computed tomography and bone scans of the abdomen and pelvis revealed no metastases
.
The patient received salvage intensity-modulated radiotherapy for prostate cancer
.
Repeat imaging revealed an irregular soft-tissue mass at the original surgical suture site, and the patient was started on androgen deprivation therapy (ADT), but PET-CT revealed that the tumor appeared to have metastasized
.
Fortunately, castration therapy works well
.
Figure 2.
Eight months after genetically detecting tumor-related genetic variants in blood samples, patients' PSA levels began to rise
.
A second bone scan revealed suspected metastases in multiple locations
.
The patient was started on abiraterone 1000 mg daily and prednisone 5 mg on top of previous treatment
.
The patient was also tested using FoundationOne Liquid, which unexpectedly discovered the V600E mutation in the BRAF gene and the CHEK2 gene mutation
.
Since CHEK2 mutations can be considered PARP inhibitors, it seems that the treatment has an idea
.
The patient was referred to the haematology unit for evaluation of thrombocytopenia before the treatment regimen was changed
.
In October 2020, the patient underwent bone marrow biopsy and was determined to be HCL (high leukocyte acute leukemia)
.
In this complex situation, a multidisciplinary tumor committee evaluated and decided to prioritize the treatment of progressive prostate cancer with close monitoring in the absence of aggressive treatment for HCL
.
Figure 3.
A patient with secondary leukemia confirmed by bone marrow aspiration and immunohistochemical analysis continued on abiraterone and prednisone and was transferred back to the radiotherapy department for stereotactic radiation therapy
.
The prostate cancer antigen PSA decreased after 5 cycles of radiation therapy to the right pelvic lymph nodes
.
Because the patient had a genetic family history of prostate cancer, the researchers reassessed the CHEK2 gene mutation
.
Since the CHEK2 gene is involved in gene repair, olaparib can be considered for this gene mutation, and doctors are also ready to try it on patients
.
But olaparib has been shown to increase the risk of developing late-onset myelodysplastic syndrome and acute myeloid leukemia
.
Considering that the patient had been diagnosed with high white blood cell acute leukemia, the doctor finally did not give the patient olaparib, but adopted other treatment measures
.
Revelation This document does not explain how the patient will be treated for hyperleukemia in the follow-up, and whether there is a cross-indication drug for the BRAF gene V600E mutation is not explained
.
The patient in the case did not detect a gene mutation and the tumor disappeared after taking targeted drugs, but during the treatment process, he repeatedly weighed various drugs and treatment decisions, and suffered repeated defeats
.
Among them, genetic testing of blood samples has brought some new treatment ideas to patients.
From this aspect, genetic testing still has certain value and significance
.
At present, the genetic testing market is mixed.
Although some expensive testing packages can detect hundreds or thousands of genes, most of the gene mutations are meaningless to the treatment of patients
.
Before patients and their families choose to undergo genetic testing, they must learn as much as possible about this knowledge and information, and spend their money wisely
.
For more genetic testing expertise, welcome to download the Cancer Degree APP to learn more
.
Reference: Gregory Hemenway, et al.
, Clinical Utility of Liquid Biopsy to Identify Genomic Heterogeneity and Secondary Cancer Diagnoses: A Case Report, Case Rep Oncol 2022;15:78–85.
Click below to learn more about clinical trial projects against cancer Dry goods review<< Swipe left and right to see more>>
