-
Categories
-
Pharmaceutical Intermediates
-
Active Pharmaceutical Ingredients
-
Food Additives
- Industrial Coatings
- Agrochemicals
- Dyes and Pigments
- Surfactant
- Flavors and Fragrances
- Chemical Reagents
- Catalyst and Auxiliary
- Natural Products
- Inorganic Chemistry
-
Organic Chemistry
-
Biochemical Engineering
- Analytical Chemistry
-
Cosmetic Ingredient
- Water Treatment Chemical
-
Pharmaceutical Intermediates
Promotion
ECHEMI Mall
Wholesale
Weekly Price
Exhibition
News
-
Trade Service
Multiple myeloma (MM) is a highly heterogeneous plasma cell monoclonal malignant proliferative disease.
Its pathogenesis is not completely clear, and the prognosis and survival of patients vary greatly.
In recent years, the rapid development of next-generation sequencing (NGS) technology has shown broad prospects in the field of MM.
To further explore the clinical significance of NGS in the early detection, diagnosis and treatment of MM, Professor Bao Li from the Department of Hematology, Beijing Jishuitan Hospital introduced the NGS program and clinical application value of MM.
The editor organizes the main content as follows for the reference of readers.
The detection value of MM-NGS is used for the diagnostic classification of hematological tumors.
Currently, the WHO classification standard proposed by the World Health Organization is adopted, which integrates the characteristics of cell morphology, immunology, cytogenetics and molecular biology, collectively referred to as MICM score type.
Nowadays, high-throughput NGS can perform accurate detection of multiple genes and multiple sites at the same time, and increase sensitivity with in-depth detection.
The NGS test is suitable for clarifying the mutation genes, loci and mutation abundance in tumors, and is of great significance for the diagnosis and prognostic stratification of blood tumors.
Cytogenetic abnormalities of MM can be seen in almost all patients, and most of them are manifested as multiple genetic abnormalities, including chromosome translocation, copy number variation, chromosome fragment deletion and amplification, etc.
Among them, the value of MM-NGS detection is also reflected in various aspects such as auxiliary diagnosis, prognostic evaluation and selection of targeted drugs.
Multiple myeloma-Landscape 2018 published a study NGS detection template included a total of 246 genes, a total of 215 genes were detected to have mutations in 418 patients, of which 106 are clear oncogenes, and the possible oncogenes are 71.
At the same time, the study found that only 6 of 418 patients had no mutated genes (1.
4%), indicating that most MM patients have one or more gene mutations.
The correlation between multiple myeloma-NGS and FISH Nowadays, the prognostic value of FISH test in patients with multiple MM has been written into the guidelines, but the FISH test results remain at the chromosomal level and cannot explain the full picture of the disease.
A more in-depth analysis of the changes at the gene level It is expected to analyze the nature of the disease in depth, and better predict the therapeutic effect and survival.
As shown in the figure, the mutated genes are different under different conditions such as IGH translocation, polyploidy, and the simultaneous existence of the two, and the heat map also shows this difference.
Multiple myeloma-single-gene genes with poor prognosis such as t(4;14), TP53, etc.
have more precise research significance.
In order to determine whether clonal genes or subclonal genes are more meaningful for prognosis, a study analyzed the 11 most frequently occurring genes, and finally found that most of the high-frequency mutant genes are clonal genes.
In addition, the single-gene prognosis of clonal P53 gene mutations and subclonal P53 gene mutations was compared, and it was found that the PFS and OS results caused by the two were not much different, and the prognosis was poor.
A study published in 2015 tried to explain the impact of MM on the prognosis of a single gene.
The study conducted a comparative analysis of ZFHX4, IRF4 and EGR1 genes, and concluded that the prognostic effect of ZFHX4 gene is poor, while the prognostic effect of IRF4 and EGR1 genes is good, but the results of this study have not been successfully repeated.
In 2019, the author published a larger research article.
A total of 1273 patients were included in this study.
In this analysis model, the PFS and OS of the TP53 gene have achieved definite research significance.
Therefore, the author put forward a new concept in the field of myeloma-the biallelic mutation of the TP53 gene, that is, "double-hit" MM, the prognosis of such patients is particularly poor.
The clinical value of MM-NGS A 2018 study analyzed the proportion and function of gene mutations in 1273 patients and defined 63 driver genes with poor prognosis, of which oncogenes accounted for a higher proportion than tumor suppressor genes.
The study's analysis of the correlation between the number of mutant genes and the prognosis showed that the more the number of mutant genes, the worse the prognosis.
At the same time, the study included FISH test results on the basis of 63 driver gene mutations, and applied mathematical statistics to divide MM patients into 9 subgroups.
The survival analysis results indicated that only the seventh group had the worst prognostic effect.
Group 7 is still the common t(14;16), deletion of del11q, amplification of 1q and fusion of DIS3.
Multiple Myeloma-Guidance for Targeted Therapy The ultimate goal of studying genes is to guide the application of targeted drugs in therapy.
For example, when the BRAF mutation prompts the use of vemurafenib, BCL2 can be used when the t(11;14) mutation is used Inhibitors, etc.
A 2014 study showed that if there is a NRAS mutation, it will affect the sensitivity of bortezomib, but has little effect on hormone drugs.
At present, NGS in the field of myeloma has not yet reached a consensus on the genetic combination for judging prognosis, and the test data and clinical data are still insufficient, and the test results of the Chinese population have not been reported.
At the same time, NGS still has a clinical prognosis and treatment selection.
Many puzzles have not been resolved.
In summary, the true value of NGS in clinical application lies in that it can help clinicians to more deeply understand the occurrence and development of MM, assist in judging the prognosis and guide treatment.
At the same time, it is hoped that in the future, the scope of clinical application of NGS can be expanded, the prognostic judgment system will be further improved, and the study of single gene mutations and targeted therapies will be explored in depth.
Poke "read the original text" and we will make progress together
Its pathogenesis is not completely clear, and the prognosis and survival of patients vary greatly.
In recent years, the rapid development of next-generation sequencing (NGS) technology has shown broad prospects in the field of MM.
To further explore the clinical significance of NGS in the early detection, diagnosis and treatment of MM, Professor Bao Li from the Department of Hematology, Beijing Jishuitan Hospital introduced the NGS program and clinical application value of MM.
The editor organizes the main content as follows for the reference of readers.
The detection value of MM-NGS is used for the diagnostic classification of hematological tumors.
Currently, the WHO classification standard proposed by the World Health Organization is adopted, which integrates the characteristics of cell morphology, immunology, cytogenetics and molecular biology, collectively referred to as MICM score type.
Nowadays, high-throughput NGS can perform accurate detection of multiple genes and multiple sites at the same time, and increase sensitivity with in-depth detection.
The NGS test is suitable for clarifying the mutation genes, loci and mutation abundance in tumors, and is of great significance for the diagnosis and prognostic stratification of blood tumors.
Cytogenetic abnormalities of MM can be seen in almost all patients, and most of them are manifested as multiple genetic abnormalities, including chromosome translocation, copy number variation, chromosome fragment deletion and amplification, etc.
Among them, the value of MM-NGS detection is also reflected in various aspects such as auxiliary diagnosis, prognostic evaluation and selection of targeted drugs.
Multiple myeloma-Landscape 2018 published a study NGS detection template included a total of 246 genes, a total of 215 genes were detected to have mutations in 418 patients, of which 106 are clear oncogenes, and the possible oncogenes are 71.
At the same time, the study found that only 6 of 418 patients had no mutated genes (1.
4%), indicating that most MM patients have one or more gene mutations.
The correlation between multiple myeloma-NGS and FISH Nowadays, the prognostic value of FISH test in patients with multiple MM has been written into the guidelines, but the FISH test results remain at the chromosomal level and cannot explain the full picture of the disease.
A more in-depth analysis of the changes at the gene level It is expected to analyze the nature of the disease in depth, and better predict the therapeutic effect and survival.
As shown in the figure, the mutated genes are different under different conditions such as IGH translocation, polyploidy, and the simultaneous existence of the two, and the heat map also shows this difference.
Multiple myeloma-single-gene genes with poor prognosis such as t(4;14), TP53, etc.
have more precise research significance.
In order to determine whether clonal genes or subclonal genes are more meaningful for prognosis, a study analyzed the 11 most frequently occurring genes, and finally found that most of the high-frequency mutant genes are clonal genes.
In addition, the single-gene prognosis of clonal P53 gene mutations and subclonal P53 gene mutations was compared, and it was found that the PFS and OS results caused by the two were not much different, and the prognosis was poor.
A study published in 2015 tried to explain the impact of MM on the prognosis of a single gene.
The study conducted a comparative analysis of ZFHX4, IRF4 and EGR1 genes, and concluded that the prognostic effect of ZFHX4 gene is poor, while the prognostic effect of IRF4 and EGR1 genes is good, but the results of this study have not been successfully repeated.
In 2019, the author published a larger research article.
A total of 1273 patients were included in this study.
In this analysis model, the PFS and OS of the TP53 gene have achieved definite research significance.
Therefore, the author put forward a new concept in the field of myeloma-the biallelic mutation of the TP53 gene, that is, "double-hit" MM, the prognosis of such patients is particularly poor.
The clinical value of MM-NGS A 2018 study analyzed the proportion and function of gene mutations in 1273 patients and defined 63 driver genes with poor prognosis, of which oncogenes accounted for a higher proportion than tumor suppressor genes.
The study's analysis of the correlation between the number of mutant genes and the prognosis showed that the more the number of mutant genes, the worse the prognosis.
At the same time, the study included FISH test results on the basis of 63 driver gene mutations, and applied mathematical statistics to divide MM patients into 9 subgroups.
The survival analysis results indicated that only the seventh group had the worst prognostic effect.
Group 7 is still the common t(14;16), deletion of del11q, amplification of 1q and fusion of DIS3.
Multiple Myeloma-Guidance for Targeted Therapy The ultimate goal of studying genes is to guide the application of targeted drugs in therapy.
For example, when the BRAF mutation prompts the use of vemurafenib, BCL2 can be used when the t(11;14) mutation is used Inhibitors, etc.
A 2014 study showed that if there is a NRAS mutation, it will affect the sensitivity of bortezomib, but has little effect on hormone drugs.
At present, NGS in the field of myeloma has not yet reached a consensus on the genetic combination for judging prognosis, and the test data and clinical data are still insufficient, and the test results of the Chinese population have not been reported.
At the same time, NGS still has a clinical prognosis and treatment selection.
Many puzzles have not been resolved.
In summary, the true value of NGS in clinical application lies in that it can help clinicians to more deeply understand the occurrence and development of MM, assist in judging the prognosis and guide treatment.
At the same time, it is hoped that in the future, the scope of clinical application of NGS can be expanded, the prognostic judgment system will be further improved, and the study of single gene mutations and targeted therapies will be explored in depth.
Poke "read the original text" and we will make progress together
